Autosomal dominant rhegmatogenous retinal detachment

General Information (adopted from Orphanet):

Synonyms, Signs: DRRD, INCLUDED
STICKLER SYNDROME, ATYPICAL RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED
STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR
Number of Symptoms 4
OrphanetNr: 209867
OMIM Id: 609508
ICD-10: H33.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 38 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Vitreoretinal degeneration
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0012230) Rhegmatogenous retinal detachment 15671297 IBIS 1 / 7739
2
(HPO:0000545) Myopia 15671297 IBIS 286 / 7739
3
(HPO:0004327) Abnormality of the vitreous humor 15671297 IBIS 14 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM - Stickler Syndrome, Type I, Predominantly Ocular

Individuals with Stickler syndrome caused by mutations in the COL2A1 gene (Sticker syndrome type I, or STL1; 108300) almost always display a congenital vitreous abnormality consisting of a vestigial ...

Molecular genetics OMIM - Stickler Syndrome, Type I, Predominantly Ocular

In 3 families with a predominantly ocular form of type I Stickler syndrome, Richards et al. (2006) found 3 distinct mutations in the alternatively spliced exon 2 of the ...