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Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives

Neveu, MM; Padhy, SK; Ramamurthy, S; Takkar, B; Jalali, S; Deepika, CP; Padhi, TR; (2022) Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives. Clinical Ophthalmology , 16 pp. 1569-1587. 10.2147/OPTH.S329282. Green open access

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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.

Type: Article
Title: Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives
Location: New Zealand
Open access status: An open access version is available from UCL Discovery
DOI: 10.2147/OPTH.S329282
Publisher version: https://doi.org/10.2147/OPTH.S329282
Language: English
Additional information: © 2022 Neveu et al. This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms. php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).
Keywords: VEP, albinism, foveal hypoplasia, misrouting, visual electrophysiology
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL
URI: https://discovery.ucl.ac.uk/id/eprint/10154216
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