Genetics in Stickler Syndrome
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (25 May 2022) | Viewed by 31995
Special Issue Editor
Interests: pathogenesis and prevention of retinal detachment; Stickler syndrome; molecular genetics of retinal detachment
Special Issue Information
Dear Colleagues,
The Stickler syndromes form part of the spectrum of type II, IX, and XI collagenopathies. They are the most common cause of retinal detachment in children and the most common cause of familial retinal detachment.
In contrast to many other blinding retinal disorders, blindness from retinal detachment is both relatively common and preventable with accurate prediction of those at risk. Recent advances in the molecular genetic analysis of Stickler syndrome have allowed clinicians to stratify with far greater accuracy the risk of blindness in affected individuals and offer prophylactic surgery to reduce the risk of avoidable blindness, particularly in children.
The genes for type II, IX, and XI collagen are also expressed in elastic and hyaline cartilage, and patients with Stickler syndrome may also suffer from deafness, cleft palate, and premature arthropathy.
This review focusses on recent molecular genetic advances in all the multisystem aspects of Stickler syndrome, together with an overview of how these relate to myopia and retinal detachment in the population at large.
Dr. Martin Snead
Guest Editor
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Keywords
- retinal detachment
- collagen
- giant retinal tear
- COL2A1
- COL11A1
- COL9A1
- COL9A2
- COL9A3
- stickler syndrome
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