AI Article Synopsis
- - Albinism is a group of genetic disorders that affect melanin production and can lead to eye development issues, with common symptoms in oculocutaneous albinism (OCA) and ocular albinism (OA) like poor visual acuity and eye misrouting.
- - The study focuses on the prevalence, genetics, and ocular effects of OCA and OA, specifically discussing how these conditions can lead to abnormal development of the optic chiasm.
- - It highlights the importance of visual electrophysiology, particularly visual evoked potentials (VEP), in diagnosing chiasmal dysfunction, while also considering other potential disorders that may resemble albinism for differential diagnosis.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9148211 | PMC |
| http://dx.doi.org/10.2147/OPTH.S329282 | DOI Listing |
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