MACULAR DYSTROPHY, VITELLIFORM, 1

General Information (adopted from Orphanet):

Synonyms, Signs: VITELLIFORM MACULAR DYSTROPHY, ATYPICAL
VMD1
Number of Symptoms 9
OrphanetNr:
OMIM Id: 153840
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:0000505) Visual impairment rare [HPO:skoehler] 297 / 7739
2
(HPO:0007663) Reduced visual acuity rare [HPO:skoehler] 100 / 7739
3
(HPO:0007677) Vitelliform-like macular lesions 4 / 7739
4
(HPO:0007754) Macular dystrophy 26 / 7739
5
(HPO:0001123) Visual field defect rare [HPO:skoehler] 30 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(HPO:0003584) Late onset 10 / 7739
8
(OMIM) Atypical vitelliform macular dystrophy (VMD1) 1 / 7739
9
(OMIM) Fluorescein angiography more helpful than electrooculography (EOG) in ascertaining affecteds 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ferrell et al. (1983) reported a large family segregating autosomal dominant atypical vitelliform macular dystrophy. In this family, fluorescein angiography was more helpful than electrooculogram (EOG) in ascertaining affected persons. Early signs were minimal angiographic changes in the ...