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

doi:10.1177/11206721231169309

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Article

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

European journal of ophthalmology - 1 Jan 2024

Malik Hammad, Soh Zack, Nixon Thomas R W, McNinch Annie, Richards Allan J, Alexander Philip, Martin Howard, Snead Martin P

Abstract excerpt

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...

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