Advances in the evaluation and management of cortical/cerebral visual impairment in children

  • Melinda Y. Chang
    Correspondence
    Corresponding author: Melinda Y. Chang, MD, 4650 Sunset Blvd., #88, Los Angeles, CA 90027. Tel.: 323.361.4510; Fax: 323.361.7993.
    Affiliations
    Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA, USA

    Roski Eye Institute, University of Southern California, Los Angeles, CA, USA
    Search for articles by this author
  • Mark S. Borchert
    Affiliations
    Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA, USA

    Roski Eye Institute, University of Southern California, Los Angeles, CA, USA
    Search for articles by this author

      Abstract

      Cortical/cerebral visual impairment (CVI) is the most frequent cause of pediatric visual impairment in developed countries and is increasing in prevalence in developing nations. The most common underlying etiology is hypoxic-ischemic encephalopathy, particularly in premature children. Other causes include seizures, hydrocephalus, trauma, and infections. Because of neurologic comorbidities, children with CVI often present challenges in diagnosis and characterization of visual deficits. Caregiver questionnaires may aid in assessment of visual functioning, while newer types of neuroimaging, including functional neuroimaging and diffusion tensor magnetic resonance imaging, may provide further insights on structure-function relationships. Genetic testing may assist in identification of underlying genetic or metabolic syndromes. Although no standard therapy for pediatric CVI exists, advances in care of preterm children and those with hypoxic-ischemic encephalopathy may in future reduce the incidence of this disorder. In addition, various methods of visual stimulation and stem cells have been advocated as treatment for pediatric CVI. Future controlled trials using standardized methods of visual assessment are necessary to establish whether these interventions are superior to observation. Practitioners should work with families and teachers of children with CVI to optimize their environment for visual functioning. Comorbid ocular and systemic disorders, which are common, should be managed appropriately.

      Keywords

      To read this article in full you will need to make a payment

      Subscribe:

      Subscribe to Survey of Ophthalmology
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Acers T.E.
        • Cooper W.C.
        Cortical blindness secondary to bacterial meningitis.
        Am J Ophthalmol. 1965; 59: 226-229
        • Afshari M.A.
        • Afshari N.A.
        • Fulton A.B.
        Cortical visual impairment in infants and children.
        Int Ophthalmol Clin. 2001; 41: 159-169
        • Ahmed M.
        • Dutton G.N.
        Cognitive visual dysfunction in a child with cerebral damage.
        Dev Med Child Neurol. 1996; 38: 736-739
        • Al-Maawali A.
        • Barry B.J.
        • Rajab A.
        • et al.
        Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
        Am J Med Genet A. 2016; 170A: 435-440
        • Ali W.H.
        Ciprofloxacin-associated posterior reversible encephalopathy.
        BMJ Case Rep. 2013; 2013
        • Almuqbil M.
        • Chinsky J.M.
        • Srivastava S.
        Metabolic strokes in propionic acidemia: transient hemiplegic events without encephalopathy.
        Child Neurol Open. 2019; 6 (2329048X19873242)
        • Ashworth J.L.
        • Biswas S.
        • Wraith E.
        • Lloyd I.C.
        The ocular features of the mucopolysaccharidoses.
        Eye (Lond). 2006; 20: 553-563
        • Banker B.Q.
        • Larroche J.C.
        Periventricular leukomalacia of infancy. A form of neonatal anoxic encephalopathy.
        Arch Neurol. 1962; 7: 386-410
        • Bauer C.M.
        • Heidary G.
        • Koo B.B.
        • et al.
        Abnormal white matter tractography of visual pathways detected by high-angular-resolution diffusion imaging (HARDI) corresponds to visual dysfunction in cortical/cerebral visual impairment.
        J AAPOS. 2014; 18: 398-401
        • Bencivenga R.
        • Wong P.K.
        • Woo S.
        • Jan J.E.
        Quantitative VEP analysis in children with cortical visual impairment.
        Brain Topogr. 1989; 1: 193-198
        • Bennett C.R.
        • Bauer C.M.
        • Bailin E.S.
        • Merabet L.B.
        Neuroplasticity in cerebral visual impairment (CVI): assessing functional vision and the neurophysiological correlates of dorsal stream dysfunction.
        Neurosci Biobehav Rev. 2019; 108: 171-181
        • Berko E.R.
        • Cho M.T.
        • Eng C.
        • et al.
        De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
        J Med Genet. 2017; 54: 84-86
        • Bhat J.I.
        • Qureeshi U.A.
        • Bhat M.A.
        Acute intermittent porphyria with transient cortical blindness.
        Indian Pediatr. 2010; 47: 977-978
        • Biagioni E.
        • Cioni G.
        • Cowan F.
        • et al.
        Visual function and EEG reactivity in infants with perinatal brain lesions at 1 year.
        Dev Med Child Neurol. 2002; 44: 171-176
        • Bie A.S.
        • Fernandez-Guerra P.
        • Birkler R.I.
        • et al.
        Effects of a mutation in the HSPE1 gene encoding the mitochondrial co-chaperonin HSP10 and its potential association with a neurological and developmental disorder.
        Front Mol Biosci. 2016; 3: 65
        • Binder N.R.
        • Kruglyakova J.
        • Borchert M.S.
        Strabismus in patients with cortical visual impairment: outcomes of surgery and observations of spontaneous resolution.
        J AAPOS. 2016; 20: 121-125
        • Birch E.E.
        • Bane M.C.
        Forced-choice preferential looking acuity of children with cortical visual impairment.
        Dev Med Child Neurol. 1991; 33: 722-729
        • Blom J.L.
        • Barth P.G.
        • Visser S.L.
        The visual evoked potential in the first six years of life.
        Electroencephalogr Clin Neurophysiol. 1980; 48: 395-405
        • Bodeau-Livinec F.
        • Surman G.
        • Kaminski M.
        • et al.
        Recent trends in visual impairment and blindness in the UK.
        Arch Dis Child. 2007; 92: 1099-1104
        • Bondi F.S.
        The incidence and outcome of neurological abnormalities in childhood cerebral malaria: a long-term follow-up of 62 survivors.
        Trans R Soc Trop Med Hyg. 1992; 86: 17-19
        • Boonstra N.
        • Limburg H.
        • Tijmes N.
        • et al.
        Changes in causes of low vision between 1988 and 2009 in a Dutch population of children.
        Acta Ophthalmol. 2012; 90: 277-286
        • Bosch D.G.
        • Boonstra F.N.
        • de Leeuw N.
        • et al.
        Novel genetic causes for cerebral visual impairment.
        Eur J Hum Genet. 2016; 24: 660-665
        • Bosch D.G.
        • Boonstra F.N.
        • Gonzaga-Jauregui C.
        • et al.
        NR2F1 mutations cause optic atrophy with intellectual disability.
        Am J Hum Genet. 2014; 94: 303-309
        • Bosch D.G.
        • Boonstra F.N.
        • Kinoshita T.
        • et al.
        Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
        Eur J Hum Genet. 2015; 23: 1689-1693
        • Bosch D.G.
        • Boonstra F.N.
        • Pfundt R.
        • et al.
        Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12.
        Clin Dysmorphol. 2015; 24: 34-37
        • Bosch D.G.
        • Boonstra F.N.
        • Reijnders M.R.
        • et al.
        Chromosomal aberrations in cerebral visual impairment.
        Eur J Paediatr Neurol. 2014; 18: 677-684
        • Bosch D.G.
        • Boonstra F.N.
        • Willemsen M.A.
        • et al.
        Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes.
        BMC Ophthalmol. 2014; 14: 59
        • Bose-O'Reilly S.
        • McCarty K.M.
        • Steckling N.
        • Lettmeier B.
        Mercury exposure and children's health.
        Curr Probl Pediatr Adolesc Health Care. 2010; 40: 186-215
        • Boyle N.J.
        • Jones D.H.
        • Hamilton R.
        • et al.
        Blindsight in children: does it exist and can it be used to help the child? Observations on a case series.
        Dev Med Child Neurol. 2005; 47: 699-702
        • Brun L.
        • Ngu L.H.
        • Keng W.T.
        • et al.
        Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
        Neurology. 2010; 75: 64-71
        • Burke J.P.
        • O'Keefe M.
        • Bowell R.
        • Naughten E.R.
        Ophthalmic findings in maple syrup urine disease.
        Metab Pediatr Syst Ophthalmol (1985). 1991; 14: 12-15
        • Castano G.
        • Lyons C.J.
        • Jan J.E.
        • Connolly M.
        Cortical visual impairment in children with infantile spasms.
        J AAPOS. 2000; 4: 175-178
        • Catani M.
        • Jones D.K.
        • Donato R.
        • Ffytche D.H.
        Occipito-temporal connections in the human brain.
        Brain. 2003; 126: 2093-2107
        • Chang M.Y.
        • Borchert M.S.
        Cortical visual impairment treated by Plasmapheresis in a child with metronidazole-induced encephalopathy.
        J Neuroophthalmol. 2019; (Epub ahead of print)
        • Chen T.C.
        • Weinberg M.H.
        • Catalano R.A.
        • et al.
        Development of object vision in infants with permanent cortical visual impairment.
        Am J Ophthalmol. 1992; 114: 575-578
        • Choi M.Y.
        • Lee D.S.
        • Hwang J.
        • et al.
        Investigation of visual cortex in children with cortical visual impairment: positron emission tomography.
        Neuro Ophthalmol. 2001; 25: 103-108
        • Chong C.
        • Dai S.
        Cross-sectional study on childhood cerebral visual impairment in New Zealand.
        J AAPOS. 2014; 18: 71-74
        • Chong C.F.
        • McGhee C.N.
        • Dai S.H.
        Causes of childhood low vision and blindness in New Zealand.
        Clin Exp Ophthalmol. 2019; 47: 165-170
        • Chorna O.D.
        • Guzzetta A.
        • Maitre N.L.
        Vision assessments and interventions for infants 0-2 years at high risk for cerebral palsy: a systematic review.
        Pediatr Neurol. 2017; 76: 3-13
        • Cioni G.
        • Fazzi B.
        • Coluccini M.
        • et al.
        Cerebral visual impairment in preterm infants with periventricular leukomalacia.
        Pediatr Neurol. 1997; 17: 331-338
        • Cioni G.
        • Fazzi B.
        • Ipata A.E.
        • et al.
        Correlation between cerebral visual impairment and magnetic resonance imaging in children with neonatal encephalopathy.
        Dev Med Child Neurol. 1996; 38: 120-132
        • Clarke N.F.
        • Andrews I.
        • Carpenter K.
        • et al.
        D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses.
        Am J Med Genet A. 2003; 120A: 523-527
        • Clarke M.P.
        • Mitchell K.W.
        • Gibson M.
        The prognostic value of flash visual evoked potentials in the assessment of non-ocular visual impairment in infancy.
        Eye (Lond). 1997; 11: 398-402
        • Cohen-Maitre S.A.
        • Haerich P.
        Visual attention to movement and color in children with cortical visual impairment.
        J Vis Impair Blind. 2005; 99: 2006
        • Coman D.
        • Vissers L.
        • Riley L.G.
        • et al.
        Squalene synthase deficiency: clinical, biochemical, and molecular characterization of a defect in cholesterol biosynthesis.
        Am J Hum Genet. 2018; 103: 125-130
        • Connolly M.B.
        • Jan J.E.
        • Cochrane D.D.
        Rapid recovery from cortical visual impairment following correction of prolonged shunt malfunction in congenital hydrocephalus.
        Arch Neurol. 1991; 48: 956-957
        • Courage M.L.
        • Adams R.J.
        • Reyno S.
        • Kwa P.G.
        Visual acuity in infants and children with down syndrome.
        Dev Med Child Neurol. 1994; 36: 586-593
        • Cowey A.
        • Stoerig P.
        The neurobiology of blindsight.
        Trends Neurosci. 1991; 14: 140-145
        • Darwish A.H.
        Posterior reversible encephalopathy syndrome in children: a prospective follow-up study.
        J Child Neurol. 2020; 35: 55-62
        • Davidson J.O.
        • Wassink G.
        • van den Heuij L.G.
        • et al.
        Therapeutic hypothermia for neonatal hypoxic-ischemic encephalopathy - where to from here?.
        Front Neurol. 2015; 6: 198
        • Deciphering Developmental Disorders Study
        Large-scale discovery of novel genetic causes of developmental disorders.
        Nature. 2015; 519: 223-228
        • Deramore Denver B.
        • Froude E.
        • Rosenbaum P.
        • et al.
        Measurement of visual ability in children with cerebral palsy: a systematic review.
        Dev Med Child Neurol. 2016; 58: 1016-1029
        • Dhaliwal U.
        Cortical blindness: an unusual sequela of snake bite.
        Indian J Ophthalmol. 1999; 47: 191-192
        • Downes S.M.
        • Black G.C.
        • Hyman N.
        • et al.
        Visual loss due to progressive multifocal leukoencephalopathy in a congenital immunodeficiency disorder.
        Arch Ophthalmol. 2001; 119: 1376-1378
        • Duffau H.
        • Gatignol P.
        • Mandonnet E.
        • et al.
        New insights into the anatomo-functional connectivity of the semantic system: a study using cortico-subcortical electrostimulations.
        Brain. 2005; 128: 797-810
        • Durnian J.M.
        • Cheeseman R.
        • Kumar A.
        • et al.
        Childhood sight impairment: a 10-year picture.
        Eye (Lond). 2010; 24: 112-117
        • Dutton G.N.
        ‘Dorsal stream dysfunction’ and ‘dorsal stream dysfunction plus’: a potential classification for perceptual visual impairment in the context of cerebral visual impairment?.
        Dev Med Child Neurol. 2009; 51: 170-172
        • Dutton G.N.
        The spectrum of cerebral visual impairment as a sequel to premature birth: an overview.
        Doc Ophthalmol. 2013; 127: 69-78
        • Dutton G.
        • Ballantyne J.
        • Boyd G.
        • et al.
        Cortical visual dysfunction in children: a clinical study.
        Eye (Lond). 1996; 10: 302-309
        • Dutton G.N.
        • Calvert J.
        • Ibrahim H.
        • et al.
        Structured clinical history taking for cognitive and perceptual visual dysfunction and for profound visual disabilities due to damage to the brain in children.
        in: Dutton G. Bax M. Visual Impairment in Children Due to Damage to the Brain. Mac Keith Press, London2010
        • Dutton G.N.
        • McKillop E.C.
        • Saidkasimova S.
        Visual problems as a result of brain damage in children.
        Br J Ophthalmol. 2006; 90: 932-933
        • Dutton G.N.
        • Saaed A.
        • Fahad B.
        • et al.
        Association of binocular lower visual field impairment, impaired simultaneous perception, disordered visually guided motion and inaccurate saccades in children with cerebral visual dysfunction-a retrospective observational study.
        Eye (Lond). 2004; 18: 27-34
        • Eken P.
        • de Vries L.S.
        • van der Graaf Y.
        • et al.
        Haemorrhagic-ischaemic lesions of the neonatal brain: correlation between cerebral visual impairment, neurodevelopmental outcome and MRI in infancy.
        Dev Med Child Neurol. 1995; 37: 41-55
        • Eken P.
        • de Vries L.S.
        • van Nieuwenhuizen O.
        • et al.
        Early predictors of cerebral visual impairment in infants with cystic leukomalacia.
        Neuropediatrics. 1996; 27: 16-25
        • Eken P.
        • van Nieuwenhuizen O.
        • van der Graaf Y.
        • et al.
        Relation between neonatal cranial ultrasound abnormalities and cerebral visual impairment in infancy.
        Dev Med Child Neurol. 1994; 36: 3-15
        • Eldridge P.R.
        • Punt J.A.
        Transient traumatic cortical blindness in children.
        Lancet. 1988; 1: 815-816
        • Ellingson R.J.
        Variability of visual evoked responses in the human newborn.
        Electroencephalogr Clin Neurophysiol. 1970; 29: 10-19
        • Esmaeeli Nieh S.
        • Madou M.R.
        • Sirajuddin M.
        • et al.
        De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
        Ann Clin Transl Neurol. 2015; 2: 623-635
        • Farukhi F.
        • Dakkouri C.
        • Wang H.
        • et al.
        Etiology of vision loss in ganglioside GM3 synthase deficiency.
        Ophthalmic Genet. 2006; 27: 89-91
        • Fazzi E.
        • Signorini S.G.
        • Bova S.M.
        • et al.
        Spectrum of visual disorders in children with cerebral visual impairment.
        J Child Neurol. 2007; 22: 294-301
        • Fischer H.S.
        • Reibel N.J.
        • Buhrer C.
        • Dame C.
        Prophylactic early erythropoietin for neuroprotection in preterm infants: a meta-analysis.
        Pediatrics. 2017; 139: e20164317
        • Flanagan N.M.
        • Jackson A.J.
        • Hill A.E.
        Visual impairment in childhood: insights from a community-based survey.
        Child Care Health Dev. 2003; 29: 493-499
        • Frank Y.
        • Kurtzberg D.
        • Kreuzer J.A.
        • Vaughan Jr., H.G.
        Flash and pattern-reversal visual evoked potential abnormalities in infants and children with cerebral blindness.
        Dev Med Child Neurol. 1992; 34: 305-315
        • Frank Y.
        • Torres F.
        Visual evoked potentials in the evaluation of “cortical blindness” in children.
        Ann Neurol. 1979; 6: 126-129
        • Fregeau B.
        • Kim B.J.
        • Hernandez-Garcia A.
        • et al.
        De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions.
        Am J Hum Genet. 2016; 98: 963-970
        • Frutiger S.A.
        • Fennell E.
        • Parsons M.
        Neuropsychological impairments associated with resolution of cortical blindness following cyclosporine neurotoxicity in childhood.
        Child Neuropsychol. 1999; 5: 60-69
        • Fry A.E.
        • Fawcett K.A.
        • Zelnik N.
        • et al.
        De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
        Brain. 2018; 141: 698-712
        • Gale M.J.
        • Titus H.E.
        • Harman G.A.
        • et al.
        Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome.
        Am J Ophthalmol Case Rep. 2018; 10: 244-248
        • Gane B.D.
        • Bhat V.
        • Rao R.
        • et al.
        Effect of therapeutic hypothermia on DNA damage and neurodevelopmental outcome among term neonates with perinatal asphyxia: a randomized controlled trial.
        J Trop Pediatr. 2014; 60: 134-140
        • Garg B.P.
        Colpocephaly. An error of morphogenesis?.
        Arch Neurol. 1982; 39: 243-246
        • Gasch A.T.
        • Caruso R.C.
        • Kaler S.G.
        • Kaiser-Kupfer M.
        Menkes' syndrome: ophthalmic findings.
        Ophthalmology. 2002; 109: 1477-1483
        • Gershlick D.C.
        • Ishida M.
        • Jones J.R.
        • et al.
        A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes.
        Hum Mol Genet. 2019; 28: 1548-1560
        • Gilbert C.
        • Foster A.
        Childhood blindness in the context of VISION 2020--the right to sight.
        Bull World Health Organ. 2001; 79: 227-232
        • Gluckman P.D.
        • Wyatt J.S.
        • Azzopardi D.
        • et al.
        Selective head cooling with mild systemic hypothermia after neonatal encephalopathy: multicentre randomised trial.
        Lancet. 2005; 365: 663-670
        • Goldberg M.F.
        The blinding mechanisms of incontinentia pigmenti.
        Ophthalmic Genet. 1994; 15: 69-76
        • Gonatas N.K.
        • Goldehsohn E.S.
        Unusual neocortical presynaptic terminals in a patient with convulsions, mental retardation and cortical blindness: an electron microscopic study.
        J Neuropathol Exp Neurol. 1965; 24: 539-562
        • Good W.V.
        Development of a quantitative method to measure vision in children with chronic cortical visual impairment.
        Trans Am Ophthalmol Soc. 2001; 99: 253-269
        • Good W.V.
        The spectrum of vision impairment caused by pediatric neurological injury.
        J AAPOS. 2007; 11: 424-425
        • Good W.V.
        • Brodsky M.C.
        • Angtuaco T.L.
        • et al.
        Cortical visual impairment caused by twin pregnancy.
        Am J Ophthalmol. 1996; 122: 709-716
        • Good W.V.
        • Hou C.
        Sweep visual evoked potential grating acuity thresholds paradoxically improve in low-luminance conditions in children with cortical visual impairment.
        Invest Ophthalmol Vis Sci. 2006; 47: 3220-3224
        • Good W.V.
        • Hou C.
        • Norcia A.M.
        Spatial contrast sensitivity vision loss in children with cortical visual impairment.
        Invest Ophthalmol Vis Sci. 2012; 53: 7730-7734
        • Good W.V.
        • Hoyt C.S.
        Behavioral correlates of poor vision in children.
        Int Ophthalmol Clin. 1989; 29: 57-60
        • Good W.V.
        • Jan J.E.
        • Burden S.K.
        • et al.
        Recent advances in cortical visual impairment.
        Dev Med Child Neurol. 2001; 43: 56-60
        • Good W.V.
        • Jan J.E.
        • DeSa L.
        • et al.
        Cortical visual impairment in children.
        Surv Ophthalmol. 1994; 38: 351-364
        • Goodale M.A.
        Separate visual systems for perception and action: a framework for understanding cortical visual impairment.
        Dev Med Child Neurol. 2013; 55: 9-12
        • Gorrie F.
        • Goodall K.
        • Rush R.
        • Ravenscroft J.
        Towards population screening for cerebral visual impairment: validity of the five questions and the CVI questionnaire.
        PLoS One. 2019; 14: e0214290
        • Gospe Jr., S.M.
        Transient cortical blindness in an infant exposed to methamphetamine.
        Ann Emerg Med. 1995; 26: 380-382
        • Granet D.B.
        • Hertle R.W.
        • Quinn G.E.
        • Breton M.E.
        The visual-evoked response in infants with central visual impairment.
        Am J Ophthalmol. 1993; 116: 437-443
        • Grant A.C.
        • Donnelly K.M.
        • Chubb C.
        • et al.
        Temporal lobe epilepsy does not impair visual perception.
        Epilepsia. 2008; 49: 710-713
        • Hagmann P.
        • Jonasson L.
        • Maeder P.
        • et al.
        Understanding diffusion MR imaging techniques: from scalar diffusion-weighted imaging to diffusion tensor imaging and beyond.
        Radiographics. 2006; 26: S205-S223
        • Hahn J.S.
        • Havens P.L.
        • Higgins J.J.
        • et al.
        Neurological complications of hemolytic-uremic syndrome.
        J Child Neurol. 1989; 4: 108-113
        • Haltia T.
        • Palo J.
        • Haltia M.
        • Icen A.
        Juvenile metachromatic leukodystrophy. Clinical, biochemical, and neuropathologic studies in nine new cases.
        Arch Neurol. 1980; 37: 42-46
        • Han D.P.
        • Wilkinson W.S.
        Late ophthalmic manifestations of the shaken baby syndrome.
        J Pediatr Ophthalmol Strabismus. 1990; 27: 299-303
        • Handa S.
        • Saffari S.E.
        • Borchert M.
        Factors associated with lack of vision improvement in children with cortical visual impairment.
        J Neuroophthalmol. 2018; 38: 429-433
        • Harel T.
        • Yesil G.
        • Bayram Y.
        • et al.
        Monoallelic and biallelic variants in EMC1 identified in individuals with global developmental delay, hypotonia, scoliosis, and cerebellar atrophy.
        Am J Hum Genet. 2016; 98: 562-570
        • Herbet G.
        • Moritz-Gasser S.
        • Duffau H.
        Direct evidence for the contributive role of the right inferior fronto-occipital fasciculus in non-verbal semantic cognition.
        Brain Struct Funct. 2017; 222: 1597-1610
        • Herbet G.
        • Yordanova Y.N.
        • Duffau H.
        Left spatial neglect evoked by electrostimulation of the right inferior fronto-occipital fasciculus.
        Brain Topogr. 2017; 30: 747-756
        • Hertz B.G.
        • Rosenberg J.
        • Sjo O.
        • Warburg M.
        Acuity card testing of patients with cerebral visual impairment.
        Dev Med Child Neurol. 1988; 30: 632-637
        • Highley M.
        • Meller S.T.
        • Pinkerton C.R.
        Seizures and cortical dysfunction following high-dose cisplatin administration in children.
        Med Pediatr Oncol. 1992; 20: 143-148
        • Hoyt C.S.
        Visual function in the brain-damaged child.
        Eye (Lond). 2003; 17: 369-384
        • Huo R.
        • Burden S.K.
        • Hoyt C.S.
        • Good W.V.
        Chronic cortical visual impairment in children: aetiology, prognosis, and associated neurological deficits.
        Br J Ophthalmol. 1999; 83: 670-675
        • Jacobson L.K.
        • Dutton G.N.
        Periventricular leukomalacia: an important cause of visual and ocular motility dysfunction in children.
        Surv Ophthalmol. 2000; 45: 1-13
        • Jacobson L.
        • Ek U.
        • Fernell E.
        • et al.
        Visual impairment in preterm children with periventricular leukomalacia--visual, cognitive and neuropaediatric characteristics related to cerebral imaging.
        Dev Med Child Neurol. 1996; 38: 724-735
        • Jan J.E.
        • Groenveld M.
        • Anderson D.P.
        Photophobia and cortical visual impairment.
        Dev Med Child Neurol. 1993; 35: 473-477
        • Jan J.E.
        • Groenveld M.
        • Sykanda A.M.
        Light-gazing by visually impaired children.
        Dev Med Child Neurol. 1990; 32: 755-759
        • Jan J.E.
        • Groenveld M.
        • Sykanda A.M.
        • Hoyt C.S.
        Behavioural characteristics of children with permanent cortical visual impairment.
        Dev Med Child Neurol. 1987; 29: 571-576
        • Kamali A.
        • Flanders A.E.
        • Brody J.
        • et al.
        Tracing superior longitudinal fasciculus connectivity in the human brain using high resolution diffusion tensor tractography.
        Brain Struct Funct. 2014; 219: 269-281
        • Kariya S.
        • Aoji K.
        • Akagi H.
        • et al.
        A terminal deletion of the short arm of chromosome 3: karyotype 46, XY, del (3) (p25-pter); a case report and literature review.
        Int J Pediatr Otorhinolaryngol. 2000; 56: 71-78
        • Katafuchi Y.
        • Nishimi T.
        • Yamaguchi Y.
        • et al.
        Cortical blindness in acute carbon monoxide poisoning.
        Brain Dev. 1985; 7: 516-519
        • Kauvar E.F.
        • Muenke M.
        Holoprosencephaly: recommendations for diagnosis and management.
        Curr Opin Pediatr. 2010; 22: 687-695
        • Khan R.I.
        • O'Keefe M.
        • Kenny D.
        • Nolan L.
        Changing pattern of childhood blindness.
        Ir Med J. 2007; 100: 458-461
        • Khetpal V.
        • Donahue S.P.
        Cortical visual impairment: etiology, associated findings, and prognosis in a tertiary care setting.
        J AAPOS. 2007; 11: 235-239
        • Kim J.H.
        • Shinde D.N.
        • Reijnders M.R.F.
        • et al.
        De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome.
        Am J Hum Genet. 2016; 99: 711-719
        • Kisler J.E.
        • Whittaker R.G.
        • McFarland R.
        Mitochondrial diseases in childhood: a clinical approach to investigation and management.
        Dev Med Child Neurol. 2010; 52: 422-433
        • Knaus A.
        • Kortum F.
        • Kleefstra T.
        • et al.
        Mutations in PIGU impair the function of the GPI transamidase complex, causing severe intellectual disability, epilepsy, and brain anomalies.
        Am J Hum Genet. 2019; 105: 395-402
        • Koeda T.
        • Takeshita K.
        Visuo-perceptual impairment and cerebral lesions in spastic diplegia with preterm birth.
        Brain Dev. 1992; 14: 239-244
        • Kong L.
        • Fry M.
        • Al-Samarraie M.
        • et al.
        An update on progress and the changing epidemiology of causes of childhood blindness worldwide.
        J AAPOS. 2012; 16: 501-507
        • Kooiker M.J.G.
        • Verbunt H.J.M.
        • van der Steen J.
        • Pel J.J.M.
        Combining visual sensory functions and visuospatial orienting functions in children with visual pathology: a longitudinal study.
        Brain Dev. 2019; 41: 135-149
        • Kran B.S.
        • Lawrence L.
        • Mayer D.L.
        • Heidary G.
        Cerebral/cortical visual impairment: a need to reassess current definitions of visual impairment and blindness.
        Semin Pediatr Neurol. 2019; 31: 25-29
        • Kupersmith M.J.
        • Nelson J.I.
        Preserved visual evoked potential in infancy cortical blindness: relationship to blindsight.
        J Neuroophthalmol. 1986; 6: 85-94
        • Kury S.
        • Besnard T.
        • Ebstein F.
        • et al.
        De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder.
        Am J Hum Genet. 2017; 100: 352-363
        • Kvarnung M.
        • Taylan F.
        • Nilsson D.
        • et al.
        Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.
        Clin Genet. 2016; 89: 99-103
        • Lambert S.R.
        • Hoyt C.S.
        • Jan J.E.
        • et al.
        Visual recovery from hypoxic cortical blindness during childhood. Computed tomographic and magnetic resonance imaging predictors.
        Arch Ophthalmol. 1987; 105: 1371-1377
        • Lanners J.
        • Piccioni A.
        • Fea F.
        • Goergen E.
        Early intervention for children with cerebral visual impairment: preliminary results.
        J Intellect Disabil Res. 1999; 43: 1-12
        • LeBlanc M.A.
        • Penney L.S.
        • Gaston D.
        • et al.
        A novel rearrangement of occludin causes brain calcification and renal dysfunction.
        Hum Genet. 2013; 132: 1223-1234
        • Lemke J.R.
        • Geider K.
        • Helbig K.L.
        • et al.
        Delineating the GRIN1 phenotypic spectrum: a distinct genetic NMDA receptor encephalopathy.
        Neurology. 2016; 86: 2171-2178
        • Li M.
        • Yu A.
        • Zhang F.
        • et al.
        Treatment of one case of cerebral palsy combined with posterior visual pathway injury using autologous bone marrow mesenchymal stem cells.
        J Transl Med. 2012; 10: 100
        • Lim M.
        • Soul J.S.
        • Hansen R.M.
        • et al.
        Development of visual acuity in children with cerebral visual impairment.
        Arch Ophthalmol. 2005; 123: 1215-1220
        • Lowery R.S.
        • Atkinson D.
        • Lambert S.R.
        Cryptic cerebral visual impairment in children.
        Br J Ophthalmol. 2006; 90: 960-963
        • Luan Z.
        • Qu S.
        • Du K.
        • et al.
        Neural stem/progenitor cell transplantation for cortical visual impairment in neonatal brain injured patients.
        Cell Transplant. 2013; 22: S101-S112
        • Macintyre-Beon C.
        • Young D.
        • Calvert J.
        • et al.
        Reliability of a question inventory for structured history taking in children with cerebral visual impairment.
        Eye (Lond). 2012; 26: 1393
        • Malkowicz D.E.
        • Myers G.
        • Leisman G.
        Rehabilitation of cortical visual impairment in children.
        Int J Neurosci. 2006; 116: 1015-1033
        • Marques-Fernandez V.E.
        • Sanchez-Tocino H.
        • Escudero-Caro M.T.
        • et al.
        Visual impairment due to lissencephaly.
        Neuro Ophthalmol. 2016; 40: 229-233
        • Marsh W.W.
        • Hurst D.L.
        Variable phenotypes in a family kindred with adrenoleukodystrophy.
        Pediatr Neurol. 1991; 7: 50-52
        • Matsuba C.A.
        • Jan J.E.
        Long-term outcome of children with cortical visual impairment.
        Dev Med Child Neurol. 2006; 48: 508-512
        • McCabe C.F.
        • Donahue S.P.
        Prognostic indicators for vision and mortality in shaken baby syndrome.
        Arch Ophthalmol. 2000; 118: 373-377
        • McCulloch D.L.
        • Mackie R.T.
        • Dutton G.N.
        • et al.
        A visual skills inventory for children with neurological impairments.
        Dev Med Child Neurol. 2007; 49: 757-763
        • McKillop E.
        • Bennett D.
        • McDaid G.
        • et al.
        Problems experienced by children with cognitive visual dysfunction due to cerebral visual impairment – and the approaches which parents have adopted to deal with these problems.
        Br J Vis Impair. 2006; 24: 121-127
        • McKillop E.
        • Dutton G.N.
        Impairment of vision in children due to damage to the brain: a practical approach.
        Br Ir Orthopt J. 2008; 5: 8-14
        • Merabet L.B.
        • Devaney K.J.
        • Bauer C.M.
        • et al.
        Characterizing visual field deficits in cerebral/cortical visual impairment (CVI) using combined diffusion based imaging and functional retinotopic mapping: a case study.
        Front Syst Neurosci. 2016; 10: 13
        • Milev M.P.
        • Graziano C.
        • Karall D.
        • et al.
        Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
        J Med Genet. 2018; 55: 753-764
        • Moel D.I.
        • Kwun Y.A.
        Cortical blindness as a complication of hemodialysis.
        J Pediatr. 1978; 93: 890-891
        • Morava E.
        • Wosik H.N.
        • Sykut-Cegielska J.
        • et al.
        Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.
        Br J Ophthalmol. 2009; 93: 350-354
        • Morse M.T.
        Should individuals who do not fit the definition of visual impairment be excluded from visual impairment services?.
        J Vis Impair Blind. 2017; 111: 377-381
        • Mukamel M.
        • Weitz R.
        • Nissenkorn I.
        • et al.
        Acute cortical blindness associated with hypoglycemia.
        J Pediatr. 1981; 98: 583-584
        • Namavar Y.
        • Barth P.G.
        • Kasher P.R.
        • et al.
        Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
        Brain. 2011; 134: 143-156
        • Natalucci G.
        • Latal B.
        • Koller B.
        • et al.
        Effect of early prophylactic high-dose recombinant human erythropoietin in very preterm infants on neurodevelopmental outcome at 2 years: a randomized clinical trial.
        JAMA. 2016; 315: 2079-2085
        • Newcomb S.
        The reliability of the CVI range: a functional vision assessment for children with cortical visual impairment.
        J Vis Impair Blind. 2010; 104: 637-647
        • Ng B.G.
        • Rosenfeld J.A.
        • Emrick L.
        • et al.
        Pathogenic variants in fucokinase cause a congenital disorder of glycosylation.
        Am J Hum Genet. 2018; 103: 1030-1037
        • Nguyen T.T.M.
        • Murakami Y.
        • Sheridan E.
        • et al.
        Mutations in GPAA1, encoding a GPI transamidase complex protein, cause developmental delay, epilepsy, cerebellar atrophy, and osteopenia.
        Am J Hum Genet. 2017; 101: 856-865
        • Nielsen L.S.
        • Skov L.
        • Jensen H.
        Visual dysfunctions and ocular disorders in children with developmental delay. I. Prevalence, diagnoses and aetiology of visual impairment.
        Acta Ophthalmol Scand. 2007; 85: 149-156
        • Norcia A.M.
        • Appelbaum L.G.
        • Ales J.M.
        • et al.
        The steady-state visual evoked potential in vision research: a review.
        J Vis. 2015; 15: 4
        • Ortibus E.
        • Laenen A.
        • Verhoeven J.
        • et al.
        Screening for cerebral visual impairment: value of a CVI questionnaire.
        Neuropediatrics. 2011; 42: 138-147
        • Ortibus E.
        • Lagae L.
        • Casteels I.
        • et al.
        Assessment of cerebral visual impairment with the L94 visual perceptual battery: clinical value and correlation with MRI findings.
        Dev Med Child Neurol. 2009; 51: 209-217
        • Ortibus E.
        • Verhoeven J.
        • Sunaert S.
        • et al.
        Integrity of the inferior longitudinal fasciculus and impaired object recognition in children: a diffusion tensor imaging study.
        Dev Med Child Neurol. 2012; 54: 38-43
        • Palmer E.E.
        • Hong S.
        • Al Zahrani F.
        • et al.
        De novo variants disrupting the HX repeat motif of ATN1 cause a recognizable non-progressive neurocognitive syndrome.
        Am J Hum Genet. 2019; 104: 778
        • Palmer L.
        • Zetterlund B.
        • Hard A.L.
        • et al.
        Aicardi syndrome: follow-up investigation of Swedish children born in 1975-2002.
        Neuropediatrics. 2007; 38: 188-192
        • Pescosolido M.F.
        • Schwede M.
        • Johnson Harrison A.
        • et al.
        Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.
        J Med Genet. 2014; 51: 587-589
        • Petrovski S.
        • Kury S.
        • Myers C.T.
        • et al.
        Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures.
        Am J Hum Genet. 2016; 98: 1001-1010
        • Philip S.
        Setting up of a cerebral visual impairment clinic for children: challenges and future developments.
        Indian J Ophthalmol. 2017; 65: 30-34
        • Philip S.S.
        • Dutton G.N.
        Identifying and characterising cerebral visual impairment in children: a review.
        Clin Exp Optom. 2014; 97: 196-208
        • Philippi C.L.
        • Mehta S.
        • Grabowski T.
        • et al.
        Damage to association fiber tracts impairs recognition of the facial expression of emotion.
        J Neurosci. 2009; 29: 15089-15099
        • Pizzarello L.
        • Abiose A.
        • Ffytche T.
        • et al.
        VISION 2020: the right to sight: a global initiative to eliminate avoidable blindness.
        Arch Ophthalmol. 2004; 122: 615-620
        • Platzer K.
        • Sticht H.
        • Edwards S.L.
        • et al.
        De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies.
        Am J Hum Genet. 2019; 104: 203-212
        • Platzer K.
        • Yuan H.
        • Schutz H.
        • et al.
        GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
        J Med Genet. 2017; 54: 460-470
        • Porro G.
        • Dekker E.M.
        • Van Nieuwenhuizen O.
        • et al.
        Visual behaviours of neurologically impaired children with cerebral visual impairment: an ethological study.
        Br J Ophthalmol. 1998; 82: 1231-1235
        • Prasad R.
        • Thakur N.
        • Mohanty C.
        • et al.
        Cysticercal encephalitis with cortical blindness.
        BMJ Case Rep. 2010; 2010
        • Prasun P.
        • Altinok D.
        • Misra V.K.
        Ornithine transcarbamylase deficiency presenting with acute reversible cortical blindness.
        J Child Neurol. 2015; 30: 782-785
        • Prasun P.
        • Hankerd M.
        • Kristofice M.
        • et al.
        Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.
        Am J Med Genet A. 2014; 164A: 1815-1820
        • Puusepp S.
        • Kovacs-Nagy R.
        • Alhaddad B.
        • et al.
        Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.
        Eur J Hum Genet. 2018; 26: 407-419
        • Rahi J.S.
        • Cable N.
        • British Childhood Visual Impairment Study Group
        Severe visual impairment and blindness in children in the UK.
        Lancet. 2003; 362: 1359-1365
        • Ricci D.
        • Anker S.
        • Cowan F.
        • et al.
        Thalamic atrophy in infants with PVL and cerebral visual impairment.
        Early Hum Dev. 2006; 82: 591-595
        • Ritter A.L.
        • McDougall C.
        • Skraban C.
        • et al.
        Variable clinical manifestations of Xia-Gibbs syndrome: findings of consecutively identified cases at a single children's hospital.
        Am J Med Genet A. 2018; 176: 1890-1896
        • Robertson R.
        • Jan J.E.
        • Wong P.K.
        Electroencephalograms of children with permanent cortical visual impairment.
        Can J Neurol Sci. 1986; 13: 256-261
        • Rodan L.H.
        • Qi W.
        • Ducker G.S.
        • et al.
        5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
        Mol Genet Metab. 2018; 125: 118-126
        • Rogers M.
        Vision impairment in Liverpool: prevalence and morbidity.
        Arch Dis Child. 1996; 74: 299-303
        • Roman Lantzy C.A.
        Cortical Visual Impairment: An Approach to Assessment and Intervention.
        2nd Edition. American Foundation for the Blind, New York2018
        • Roman Lantzy C.A.
        • Lantzy A.
        Outcomes and opportunities: a study of children with cortical visual impairment.
        J Vis Impair Blind. 2010; 104: 649-653
        • Saidkasimova S.
        • Bennett D.M.
        • Butler S.
        • Dutton G.N.
        Cognitive visual impairment with good visual acuity in children with posterior periventricular white matter injury: a series of 7 cases.
        J AAPOS. 2007; 11: 426-430
        • Sakai S.
        • Hirayama K.
        • Iwasaki S.
        • et al.
        Contrast sensitivity of patients with severe motor and intellectual disabilities and cerebral visual impairment.
        J Child Neurol. 2002; 17: 731-737
        • Sakki H.E.A.
        • Dale N.J.
        • Sargent J.
        • et al.
        Is there consensus in defining childhood cerebral visual impairment? A systematic review of terminology and definitions.
        Br J Ophthalmol. 2018; 102: 424-432
        • Salati R.
        • Borgatti R.
        • Giammari G.
        • Jacobson L.
        Oculomotor dysfunction in cerebral visual impairment following perinatal hypoxia.
        Dev Med Child Neurol. 2002; 44: 542-550
        • Samanta S.K.
        • Mahapatra N.C.
        • Fariduddin K.
        • et al.
        Cortical blindness and paraplegia following hypoxic ischemic encephalopathy as a complication of common krait bite.
        Nepal J Ophthalmol. 2011; 3: 206-209
        • Scher M.S.
        • Dobson V.
        • Carpenter N.A.
        • Guthrie R.D.
        Visual and neurological outcome of infants with periventricular leukomalacia.
        Dev Med Child Neurol. 1989; 31: 353-365
        • Schmidt B.
        • Anderson P.J.
        • Doyle L.W.
        • et al.
        Survival without disability to age 5 years after neonatal caffeine therapy for apnea of prematurity.
        JAMA. 2012; 307: 275-282
        • Schroff G.
        • Das L.
        Human embryonic stem cell therapy in cerebral palsy children with cortical visual impairment: a case series of 40 patients.
        J Cell Sci Ther. 2014; 5: 189
        • Schulzke S.M.
        • Rao S.
        • Patole S.K.
        A systematic review of cooling for neuroprotection in neonates with hypoxic ischemic encephalopathy - are we there yet?.
        BMC Pediatr. 2007; 7: 30
        • Senbil N.
        • Aydin O.F.
        • Orer H.
        • Gurer Y.K.
        Subacute sclerosing panencephalitis: a cause of acute vision loss.
        Pediatr Neurol. 2004; 31: 214-217
        • Shankaran S.
        • Laptook A.R.
        • Ehrenkranz R.A.
        • et al.
        Whole-body hypothermia for neonates with hypoxic-ischemic encephalopathy.
        N Engl J Med. 2005; 353: 1574-1584
        • Shin Y.D.
        • Lim S.W.
        • Bae J.H.
        • et al.
        Transient cortical blindness after heart surgery in a child patient -a case report.
        Korean J Anesthesiol. 2010; 59: 61-64
        • Skoczenski A.M.
        • Good W.V.
        Vernier acuity is selectively affected in infants and children with cortical visual impairment.
        Dev Med Child Neurol. 2004; 46: 526-532
        • Sonksen P.M.
        • Petrie A.
        • Drew K.J.
        Promotion of visual development of severely visually impaired babies: evaluation of a developmentally based programme.
        Dev Med Child Neurol. 1991; 33: 320-335
        • Swaminathan M.
        Cortical visual impairment in children - a new challenge for the future?.
        Oman J Ophthalmol. 2011; 4: 1-2
        • Tanaka A.J.
        • Bai R.
        • Cho M.T.
        • et al.
        De novo mutations in PURA are associated with hypotonia and developmental delay.
        Cold Spring Harb Mol Case Stud. 2015; 1: a000356
        • Taque S.
        • Peudenier S.
        • Gie S.
        • et al.
        Central neurotoxicity of cyclosporine in two children with nephrotic syndrome.
        Pediatr Nephrol. 2004; 19: 276-280
        • Taylor M.J.
        • McCulloch D.L.
        Prognostic value of VEPs in young children with acute onset of cortical blindness.
        Pediatr Neurol. 1991; 7: 111-115
        • Tham E.
        • Lindstrand A.
        • Santani A.
        • et al.
        Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
        Am J Hum Genet. 2015; 96: 507-513
        • Thun-Hohenstein L.
        • Schmitt B.
        • Steinlin H.
        • et al.
        Cortical visual impairment following bacterial meningitis: magnetic resonance imaging and visual evoked potentials findings in two cases.
        Eur J Pediatr. 1992; 151: 779-782
        • Thurston D.L.
        • Middelkamp J.N.
        • Mason E.
        The late effects of lead poisoning.
        J Pediatr. 1955; 47: 413-423
        • Tinelli F.
        • Cicchini G.M.
        • Arrighi R.
        • et al.
        Blindsight in children with congenital and acquired cerebral lesions.
        Cortex. 2013; 49: 1636-1647
        • Tohyama J.
        • Akasaka N.
        • Saito N.
        • et al.
        Megalencephaly and polymicrogyria with polydactyly syndrome.
        Pediatr Neurol. 2007; 37: 148-151
        • Torocsik H.V.
        • Curless R.G.
        • Post J.
        • et al.
        FK506-induced leukoencephalopathy in children with organ transplants.
        Neurology. 1999; 52: 1497-1500
        • Totadri S.
        • Trehan A.
        Vincristine induced cortical blindness: an alarming but reversible side effect.
        Pediatr Hematol Oncol J. 2016; 1: 61-62
        • Uggetti C.
        • Egitto M.G.
        • Fazzi E.
        • et al.
        Cerebral visual impairment in periventricular leukomalacia: MR correlation.
        AJNR Am J Neuroradiol. 1996; 17: 979-985
        • Urger S.E.
        • De Bellis M.D.
        • Hooper S.R.
        • et al.
        The superior longitudinal fasciculus in typically developing children and adolescents: diffusion tensor imaging and neuropsychological correlates.
        J Child Neurol. 2015; 30: 9-20
        • van Genderen M.
        • Dekker M.
        • Pilon F.
        • Bals I.
        Diagnosing cerebral visual impairment in children with good visual acuity.
        Strabismus. 2012; 20: 78-83
        • van Kuilenburg A.B.P.
        • Tarailo-Graovac M.
        • Meijer J.
        • et al.
        Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: a novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
        Hum Mutat. 2018; 39: 947-953
        • van Nieuwenhuizen O.
        • Willemse J.
        Neuro-imaging of cerebral visual disturbances in children.
        Neuropediatrics. 1988; 19: 3-6
        • Ventura L.O.
        • Ventura C.V.
        • Lawrence L.
        • et al.
        Visual impairment in children with congenital Zika syndrome.
        J AAPOS. 2017; 21: 295-299.e292
        • von Tetzchner S.
        • Jacobsen K.H.
        • Smith L.
        • et al.
        Vision, cognition and developmental characteristics of girls and women with Rett syndrome.
        Dev Med Child Neurol. 1996; 38: 212-225
        • Walker M.A.
        • Mohler K.P.
        • Hopkins K.W.
        • et al.
        Novel compound heterozygous mutations expand the recognized phenotypes of FARS2-linked disease.
        J Child Neurol. 2016; 31: 1127-1137
        • Wan M.J.
        • Chan K.L.
        • Jastrzembski B.G.
        • Ali A.
        Neuro-ophthalmological manifestations of tuberous sclerosis: current perspectives.
        Eye Brain. 2019; 11: 13-23
        • Wang C.C.
        • Ortiz-Gonzalez X.R.
        • Yum S.W.
        • et al.
        betaIV Spectrinopathies cause profound intellectual disability, congenital hypotonia, and motor axonal neuropathy.
        Am J Hum Genet. 2018; 102: 1158-1168
        • Wang H.
        • Zhang L.
        • Jin Y.
        A meta-analysis of the protective effect of recombinant human erythropoietin (rhEPO) for neurodevelopment in preterm infants.
        Cell Biochem Biophys. 2015; 71: 795-802
        • Watson T.
        • Orel-Bixler D.
        • Haegerstrom-Portnoy G.
        Longitudinal quantitative assessment of vision function in children with cortical visual impairment.
        Optom Vis Sci. 2007; 84: 471-480
        • Watson T.
        • Orel-Bixler D.
        • Haegerstrom-Portnoy G.
        VEP vernier, VEP grating, and behavioral grating acuity in patients with cortical visual impairment.
        Optom Vis Sci. 2009; 86: 774-780
        • Watson T.
        • Orel-Bixler D.
        • Haegerstrom-Portnoy G.
        Early visual-evoked potential acuity and future behavioral acuity in cortical visual impairment.
        Optom Vis Sci. 2010; 87: 80-86
        • Weinberger H.A.
        • Van Der Woude R.
        • Maier H.C.
        Prognosis of cortical blindness following cardiac arrest in children.
        JAMA. 1962; 179: 126-129
        • Weinstein J.M.
        • Gilmore R.O.
        • Shaikh S.M.
        • et al.
        Defective motion processing in children with cerebral visual impairment due to periventricular white matter damage.
        Dev Med Child Neurol. 2012; 54: e1-e8
        • Weisglas-Kuperus N.
        • Heersema D.J.
        • Baerts W.
        • et al.
        Visual functions in relation with neonatal cerebral ultrasound, neurology and cognitive development in very-low-birthweight children.
        Neuropediatrics. 1993; 24: 149-154
        • Whiting S.
        • Jan J.E.
        • Wong P.K.
        • et al.
        Permanent cortical visual impairment in children.
        Dev Med Child Neurol. 1985; 27: 730-739
        • Williams C.
        • Jiang Y.H.
        • Shashi V.
        • et al.
        Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.
        Clin Genet. 2015; 88: 597-599
        • Wong V.C.
        Cortical blindness in children: a study of etiology and prognosis.
        Pediatr Neurol. 1991; 7: 178-185
        • Wu Y.
        • Sun D.
        • Wang Y.
        • Wang Y.
        Subcomponents and connectivity of the inferior fronto-occipital fasciculus revealed by diffusion spectrum imaging fiber tracking.
        Front Neuroanat. 2016; 10: 88
        • Yalnizoglu D.
        • Haliloglu G.
        • Turanli G.
        • et al.
        Neurologic outcome in patients with MRI pattern of damage typical for neonatal hypoglycemia.
        Brain Dev. 2007; 29: 285-292
        • You J.
        • Sobreira N.L.
        • Gable D.L.
        • et al.
        A syndromic intellectual disability disorder caused by variants in TELO2, a gene encoding a component of the TTT complex.
        Am J Hum Genet. 2016; 98: 909-918
        • Yu B.
        • Guo Q.
        • Fan G.
        • Liu N.
        Assessment of cortical visual impairment in infants with periventricular leukomalacia: a pilot event-related FMRI study.
        Korean J Radiol. 2011; 12: 463-472
        • Zhang X.
        • Ling J.
        • Barcia G.
        • et al.
        Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
        Am J Hum Genet. 2014; 94: 547-558

      Other Cited Material

        • Farid K.
        • Caetta F.
        • Cavezian C.
        • et al.
        Brain perfusion SPECT/CT imaging findings in children with cortical visual impairments.
        J Nucl Med. 2013; 54 ([abstract]): 2012