Retinal macular dystrophy type 2

General Information (adopted from Orphanet):

Synonyms, Signs: MCDR2
Number of Symptoms 16
OrphanetNr: 319640
OMIM Id: 608051
ICD-10: H35.5
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: Genetic macular dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0007722) Retinal pigment epithelial atrophy 10 / 7739
2
(HPO:0007793) Granular macular appearance 2 / 7739
3
(HPO:0007641) Dyschromatopsia 19 / 7739
4
(HPO:0000603) Central scotoma 18 / 7739
5
(HPO:0007663) Reduced visual acuity 100 / 7739
6
(HPO:0007754) Macular dystrophy 26 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Bilateral red-speckled retinal pigment epithelium 1 / 7739
9
(OMIM) Ring of moderately increased perifoveal autofluorescence 1 / 7739
10
(OMIM) Electro-oculogram (EOG), flash electroretinogram (ERG) and pattern ERG (PERG) initially normal 1 / 7739
11
(OMIM) Gradual progressive loss of central visual acuity 1 / 7739
12
(OMIM) Bilateral macular retinal pigment epithelial mottling 1 / 7739
13
(OMIM) Bilateral macular retinal pigment epithelial atrophy 1 / 7739
14
(HPO:0030629) Perifoveal ring of hyperautofluorescence 1 / 7739
15
(OMIM) Greatly reduced light-adapted scotopic and photopic ERG by 7th decade 1 / 7739
16
(OMIM) Unrecordable PERG by 7th decade 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Michaelides et al. (2003) described a nonconsanguineous British family in which 11 members in 5 generations had a 'bull's eye' macular dystrophy first evident in the first or second decade of life. All of those affected had mild ...
Molecular genetics OMIM In affected members of a 5-generation British family with autosomal dominant 'bull's eye' macular dystrophy, previously reported by Michaelides et al. (2003), Yang et al. (2008) identified heterozygosity for a missense mutation in the PROM1 gene (604365.0003). Yang ...