MACULAR DYSTROPHY, PATTERNED, 1

General Information (adopted from Orphanet):

Synonyms, Signs: MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY
BUTTERFLY DYSTROPHY OF RETINAL PIGMENT EPITHELIUM
Number of Symptoms 4
OrphanetNr:
OMIM Id: 169150
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
(HPO:0007913) Reticular retinal dystrophy 2 / 7739
2
(HPO:0007963) Pattern dystrophy of the retina 1 / 7739
3
(OMIM) Butterfly-shaped foveal pigment dystrophy 1 / 7739
4
(OMIM) Patterned retinal pigment epithelium dystrophy 1 / 7739

Associated genes:

PRPH2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders. Three main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy, macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of ...
Clinical Description OMIM Deutman et al. (1970) described 4 of 5 brothers and the son of 1 of them with a peculiar, bilateral, butterfly-shaped pigment dystrophy of the fovea. Although electrooculogram indicated a diffuse abnormality of the retina, there was little or ...
Molecular genetics OMIM In affected members of families segregating butterfly dystrophy of the RPE, Nichols et al. (1993, 1993) identified mutations in the PRPH2 gene (179605.0009-179605.0010).