Article
Stickler syndrome - lessons from a national cohort.
Eye (London, England) - 1 Oct 2022
Snead M P, Richards A J, McNinch A M, Alexander P, Martin H, Nixon T R W, Bale P, Shenker N, Brown S, Blackwell A M, Poulson A V
Abstract excerpt
In 2011 NHS England commissioned a new national specialist MDT service for patients and families affected by Stickler syndrome. The Stickler syndromes form part of the spectrum of inherited vitreoretinopathies and are the most common cause of retinal detachment in childhood and the most common cause of familial retinal detachment. Now in its 10th year, the Stickler Highly Specialised Service (HSS) has assessed...
Topics
- Adult
- Arthritis
- Child
- Connective Tissue Diseases
- Craniofacial Abnormalities
- Eye Diseases, Hereditary
- Hearing Loss, Sensorineural
- Humans
- Mutation
- Pedigree
- Retinal Detachment