Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.
VEP
albinism
foveal hypoplasia
misrouting
visual electrophysiology
Journal
Clinical ophthalmology (Auckland, N.Z.)
ISSN: 1177-5467
Titre abrégé: Clin Ophthalmol
Pays: New Zealand
ID NLM: 101321512
Informations de publication
Date de publication:
2022
2022
Historique:
received:
07
02
2022
accepted:
14
04
2022
entrez:
31
5
2022
pubmed:
1
6
2022
medline:
1
6
2022
Statut:
epublish
Résumé
Albinism describes a heterogeneous group of genetically determined disorders characterized by disrupted synthesis of melanin and a range of developmental ocular abnormalities. The main ocular features common to both oculocutaneous albinism (OCA), and ocular albinism (OA) include reduced visual acuity, refractive errors, foveal hypoplasia, congenital nystagmus, iris and fundus hypopigmentation and visual pathway misrouting, but clinical signs vary and there is phenotypic overlap with other pathologies. This study reviews the prevalence, genetics and ocular manifestations of OCA and OA, including abnormal development of the optic chiasm. The role of visual electrophysiology in the detection of chiasmal dysfunction and visual pathway misrouting is emphasized, highlighting how age-associated changes in visual evoked potential (VEP) test results must be considered to enable accurate diagnosis, and illustrated further by the inclusion of novel VEP data in genetically confirmed cases. Differential diagnosis is considered in the context of suspected retinal and other disorders, including rare syndromes that may masquerade as albinism.
Identifiants
pubmed: 35637898
doi: 10.2147/OPTH.S329282
pii: 329282
pmc: PMC9148211
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
1569-1587Informations de copyright
© 2022 Neveu et al.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest in this work.
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