Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives

16Citations
Citations of this article
75Readers
Mendeley users who have this article in their library.

This article is free to access.

Abstract

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.

Cite

CITATION STYLE

APA

Neveu, M. M., Padhy, S. K., Ramamurthy, S., Takkar, B., Jalali, S., Deepika, C. P., … Robson, A. G. (2022). Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives. Clinical Ophthalmology. Dove Medical Press Ltd. https://doi.org/10.2147/OPTH.S329282

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free