Reticular Dystrophy Of Retinal Pigment Epithelium
Description
Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium (see this term), of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.
Genes related to Reticular Dystrophy Of Retinal Pigment Epithelium
- RCBTB1
Clinical Features
Phenotypes and symptoms related to Reticular Dystrophy Of Retinal Pigment Epithelium
- Nyctalopia
- Pigmentary retinopathy
- Abnormal electrooculogram
Incidence and onset information
— Not enough data available about incidence and published cases.
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Reticular Dystrophy Of Retinal Pigment Epithelium Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
RCBTB1.
By Institute for Human Genetics University Clinic Freiburg in Germany.
RCBTB1
Specificity
100 %
Genes
100 % |
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
LRP5, COL2A1, ATP6V0A2, NDP, TSPAN12, FZD4, ISPD, CTNNB1, ZNF408, KIF11, RCBTB1, VCAN, ATOH7, CAPN5
Specificity
8 %
Genes
100 % |
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)
View the complete list with 285 more genes
Specificity
1 %
Genes
100 % |
RCBTB1.
By Fulgent Genetics Fulgent Genetics in United States.
RCBTB1
Specificity
100 %
Genes
100 % |
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