Almohsen, Maryam A. Hadi and Rajab, Fatema Bin (2022) Rhegmatogenous Retinal Detachment in Pierre Robin Anomaly—A Suspicion for Stickler Syndrome: Case Report. Open Journal of Ophthalmology, 12 (01). pp. 51-56. ISSN 2165-7408
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Abstract
Stickler syndrome (SS) is an autosomal dominant inherited genetic disorder that presents with hearing loss, a cleft palate, epiphyseal dysplasia, and degeneration, similar to arthritis and well known to be associated with rhegmato-genous retinal detachments. A particular group of physical features called Pierre Robin sequence is also common in people with stickler syndrome. Pierre Robin sequence includes a cleft palate, glossoptosis, and micrognathia. We describe a case report of a family diagnosed with stickler syndrome presenting with Pierre Robin sequence and share some universal management steps for rhegmatogenous retinal detachment in stickler syndrome. Genetic testing is important to support the diagnosis and conduct screenings of family members.
Item Type: | Article |
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Subjects: | East India Archive > Medical Science |
Depositing User: | Unnamed user with email support@eastindiaarchive.com |
Date Deposited: | 07 Feb 2023 12:38 |
Last Modified: | 01 Jul 2024 13:28 |
URI: | http://ebooks.keeplibrary.com/id/eprint/223 |