Rhegmatogenous Retinal Detachment, Autosomal Dominant

DRRD

http://purl.bioontology.org/ontology/MESH/C563710

DRRD

C1836081

D015785

D012163

0

http://purl.bioontology.org/ontology/MESH/D015785

http://purl.bioontology.org/ontology/MESH/D012163

20121105

31

20150818

C563710

Rhegmatogenous Retinal Detachment, Autosomal Dominant

3

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

T000884172

T803428

OMIM (2016)

OMIM (2013)

T047