Ocular features in a patient presenting with a rare combination of multiple phakomatoses
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DOI: 10.1136/bcr-2022-252746
Abstract: Phakomatoses are a group of congenital disorders characterised by hamartomatous lesions of the skin as well as the central and peripheral nervous systems. The presence of naevus flammeus or port-wine stain is a characteristic feature… read more here.
Keywords: presenting rare; patient presenting; rare combination; features patient ... See more keywords
Phenotypic variations in ocular features among siblings with oculocutaneous albinism
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DOI: 10.4103/ijo.ijo_1025_22
Abstract: Purpose: To assess the clinical profiles, presenting ocular features, and variations in the phenotypic features in siblings with oculocutaneous albinism (OCA). Methods: Electronic medical records of consecutive siblings diagnosed with albinism from January 2016 to… read more here.
Keywords: among siblings; albinism; variations phenotypic; ocular features ... See more keywords
Commentary: Waardenburg syndrome: Genetics and ocular features
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DOI: 10.4103/ijo.ijo_530_22
Abstract: Waardenburg Syndrome (WS) is named after the ophthalmologist who first described the association between deafness, depigmentation, and dysmorphology.[1] It is the most common cause of syndromic hearing loss with variable degrees of pigmentation defects and… read more here.
Keywords: hearing loss; ocular features; type; waardenburg syndrome ... See more keywords