Adult-onset foveomacular vitelliform dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: FOVEOMACULAR DYSTROPHY, ADULT-ONSET
FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION
VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
AOFMD
AVMD
Adult-onset vitelliform macular dystrophy
Adult-onset foveomacular dystrophy with choroidal neovascularization
Pseudo-vitelliform macular dystrophy
Gass disease
Pseudo-Best disease
Adult-onset foveomacular dystrophy
Number of Symptoms 16
OrphanetNr: 99000
OMIM Id: 608161
ICD-10: H35.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Genetic macular dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0007677) Vitelliform-like macular lesions 4 / 7739
2
 (HPO:0000613) Photophobia 158 / 7739
3
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
4
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
5
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
6
 (HPO:0008059) Aplasia/Hypoplasia of the macula Very frequent [Orphanet] 21 / 7739
7
 (HPO:0012508) Metamorphopsia 3 / 7739
8
 (HPO:0000610) Abnormality of the choroid Frequent [Orphanet] 11 / 7739
9
 (HPO:0001123) Visual field defect Frequent [Orphanet] 30 / 7739
10
 (HPO:0007754) Macular dystrophy 26 / 7739
11
 (HPO:0000642) Red-green dyschromatopsia Frequent [Orphanet] 25 / 7739
12
 (HPO:0007401) Macular atrophy 14 / 7739
13
 (HPO:0007663) Reduced visual acuity 100 / 7739
14
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
15
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

PRPH2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Adult-onset vitelliform macular dystrophy is a rare autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity. It is ...
Clinical Description OMIM Gass (1974) described a group of patients with what he termed 'peculiar foveomacular dystrophy.' The foveomacular dystrophy in these patients was characterized by bilateral, subfoveal, vitelliform lesions (one-third disc diameter) with onset between the ages of 30 and 50 ...
Molecular genetics OMIM In a woman with adult-onset vitelliform macular dystrophy, Wells et al. (1993) identified a mutation in the RDS gene (179605.0008). In patients with adult-onset vitelliform macular dystrophy, Felbor et al. (1997) identified mutations in the RDS gene (179605.0014-179605.0015). ...