Disorder "Patterned macular dystrophy"
Found 2 records
Disorder information
Disorder name:
Patterned macular dystrophy
Disoder ID:
OMIM entry:
Synonyms:
patterned dystrophy of retinal pigment epithelium
Definition:
A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| ROM1 | ROM1:c.686G>A(p.Arg229His) | Expressivity | Altered severity | Pedigree analysis | The phenotypic severity of patients carrying the PRPH2 mutation increased with an additional mutation in ROM1.more | more |
| ABCA4 | ABCA4:c.6148G>C(p.Val2050Leu) | Expressivity | Altered severity | Pedigree analysis | Patients carrying all three mutations were the most severely affected.more | more |
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