Clinical Ophthalmology (May 2022)
Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives
Abstract
Magella M Neveu,1,2 Srikanta Kumar Padhy,3 Srishti Ramamurthy,4 Brijesh Takkar,4 Subhadra Jalali,4 Deepika CP,4 Tapas Ranjan Padhi,3 Anthony G Robson1,2 1Department Electrophysiology, Moorfields Eye Hospital, London, EC1V 2PD, UK; 2Institute of Ophthalmology, University College London, London, UK; 3Anant Bajaj Retina Institute, LV Prasad Eye Institute, Bhubaneswar, India; 4Anant Bajaj Retina Institute, LV Prasad Eye Institute, Hyderabad, IndiaCorrespondence: Anthony G Robson, Department of Electrophysiology, Moorfields Eye Hospital, 162 City Road, London, EC1V 2PD, UK, Tel +44 20 7566 2554, Email [email protected]: 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.Keywords: albinism, visual electrophysiology, misrouting, foveal hypoplasia, VEP
