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.

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.


Mendelian

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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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