FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY

General Information (adopted from Orphanet):

Synonyms, Signs: MACULAR DYSTROPHY, HEMORRHAGIC
SFD
Number of Symptoms 3
OrphanetNr:
OMIM Id: 136900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001139) Choroideremia 7 / 7739
2
(HPO:0007754) Macular dystrophy 26 / 7739
3
(OMIM) Fundus dystrophy 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sorsby et al. (1949) described 5 families with a fundus dystrophy that occurred in several generations in a dominant pedigree pattern. It became manifest at about the age of 40 years, beginning as a central (macular) lesion showing ...
Molecular genetics OMIM In 2 SFD pedigrees, Weber et al. (1994) studied TIMP3 as a candidate gene on the basis of its chromosomal location at 22q12.1-q13.2 and its pivotal physiologic role in extracellular matrix remodeling. They demonstrated point mutations in the ...