DOYNE HONEYCOMB RETINAL DYSTROPHY

General Information (adopted from Orphanet):

Synonyms, Signs: MLVT, INCLUDED
DOYNE HONEYCOMB DEGENERATION OF RETINA
DRUSEN, RADIAL, AUTOSOMAL DOMINANT, INCLUDED
DHD MALATTIA LEVENTINESE, INCLUDED
DHRD
Number of Symptoms 3
OrphanetNr:
OMIM Id: 126600
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:0007937) Reticular pigmentary degeneration 3 / 7739
2
(OMIM) Failing vision 1 / 7739
3
(OMIM) Small round white retinal spots 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Characteristically small round white spots (drusen) involving the posterior pole of the eye, including the areas of the macula and optic disc, appear in early adult life. Progression to form a mosaic pattern which Doyne (1899) aptly termed ...
Molecular genetics OMIM In 5 families with Doyne honeycomb retinal dystrophy, Stone et al. (1999) found an arg345-to-trp (R345W; 601548.0001) mutation in the EFEMP1 gene. Matsumoto and Traboulsi (2001) reported a North American family with dominant radial drusen due to the ...