AI Article Synopsis
- - Oculocutaneous albinism (OCA) is a genetic disorder affecting melanin production, studied in pediatric patients through dermatological and ophthalmological exams, including advanced imaging techniques like OCT.
- - The study found that individuals with a single pathogenic mutation showed milder symptoms, while more severe cases were linked to a greater number of genetic mutations and polymorphisms.
- - A common observation across all OCA subgroups was paler dermoscopic patterns, particularly varied vascular patterns, which indicated more severe presentations of the disease.
Article Abstract
Oculocutaneous albinism (OCA) is a genetic disease caused by disorders in melanin synthesis or distribution. In this descriptive study conducted in a tertiary care pediatric hospital, patients with a clinical diagnosis of OCA and genetic study were retrospectively recruited and underwent dermatological and ophthalmological exam, including optical coherence tomography (OCT) and digital dermoscopy. Our findings revealed milder OCA phenotypic expression in individuals harboring single pathogenic mutations in conjunction with polymorphisms, as well as in those with mutations of uncertain significance. Regardless OCA subgroup, severe phenotypes of OCA were associated with a higher number of mutations/polymorphisms in melanin biosynthesis genes and paler dermoscopic patterns, such as vascular pattern, which was the most common pattern in our series.
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| http://dx.doi.org/10.1111/pde.15463 | DOI Listing |
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