Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.

Autor: Neveu MM; Department Electrophysiology, Moorfields Eye Hospital, London, EC1V 2PD, UK.; Institute of Ophthalmology, University College London, London, UK., Padhy SK; Anant Bajaj Retina Institute, LV Prasad Eye Institute, Bhubaneswar, India., Ramamurthy S; Anant Bajaj Retina Institute, LV Prasad Eye Institute, Hyderabad, India., Takkar B; Anant Bajaj Retina Institute, LV Prasad Eye Institute, Hyderabad, India., Jalali S; Anant Bajaj Retina Institute, LV Prasad Eye Institute, Hyderabad, India., Cp D; Anant Bajaj Retina Institute, LV Prasad Eye Institute, Hyderabad, India., Padhi TR; Anant Bajaj Retina Institute, LV Prasad Eye Institute, Bhubaneswar, India., Robson AG; Department Electrophysiology, Moorfields Eye Hospital, London, EC1V 2PD, UK.; Institute of Ophthalmology, University College London, London, UK.
Jazyk: angličtina
Zdroj: Clinical ophthalmology (Auckland, N.Z.) [Clin Ophthalmol] 2022 May 24; Vol. 16, pp. 1569-1587. Date of Electronic Publication: 2022 May 24 (Print Publication: 2022).
DOI: 10.2147/OPTH.S329282
Abstrakt: 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.
Competing Interests: The authors report no conflicts of interest in this work.
(© 2022 Neveu et al.)
Databáze: MEDLINE
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