Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome

Autor:	Hammad Malik, Zack Soh, Thomas R. W. Nixon, Annie McNinch, Allan J. Richards, Philip Alexander, Howard Martin, Martin P. Snead
Rok vydání:	2023
Předmět:	Ophthalmology General Medicine
Zdroj:	European Journal of Ophthalmology. :112067212311693
ISSN:	1724-6016 1120-6721
DOI:	10.1177/11206721231169309
Popis:	This clinical report describes a family with both Marfan and ocular-only Stickler syndromes. We report 2 cases of ocular-only Stickler syndrome and 2 cases of Marfan syndrome concurrent with ocular-only Stickler syndrome. Type 1 Stickler syndrome and Marfan syndrome share many clinical similarities, and it can be difficult to differentiate them solely based on clinical presentation. Vitreous phenotyping allows for the identification of vitreous anomalies pathognomonic of Stickler syndrome, which can guide future gene sequencing. Having the accurate diagnosis of Marfan or type 1 Stickler syndrome is important, as patients with type 1 Stickler syndrome have higher rates of retinal detachment and will benefit from prophylaxis.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::a3791cc4a1cf051da9f814a1d125c65e https://doi.org/10.1177/11206721231169309 Zobrazit plný text záznamu