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Rhegmatogenous Retinal Detachment, Autosomal Dominant MeSH Supplementary Concept Data 2024


MeSH Supplementary
Rhegmatogenous Retinal Detachment, Autosomal Dominant
Unique ID
C563710
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C563710
Entry Term(s)
DRRD
Registry Number
0
Heading Mapped to
*Retinal Detachment
*Eye Diseases, Hereditary
Frequency
46
Note
A hereditary autosomal dominant disorder characterized by retinal detachment due to retinal tearing at the time of posterior vitreous detachment and PATHOLOGICAL MYOPIA. It is often described as a feature of Stickler Syndrome (OMIM: 108300) or erosive vitreoretinopathy (OMIM: 143200). However affected individuals with DRRD alone do not exhibit the vitreous phenotypes associated with Stickler Syndrome and show no signs of skeletal dysplasia or deafness. Mutations in the COL2A1 gene have been identified. OMIM: 609508
Date of Entry
2012/11/05
Revision Date
2015/08/18
Rhegmatogenous Retinal Detachment, Autosomal Dominant Preferred
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