Retinitis Pigmentosa 11; Rp11

Description

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment.For a discussion of genetic heterogeneity of RP, see {268000}.

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 11; Rp11

  • Cataract
  • Visual impairment
  • Edema
  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Macular atrophy
  • Severe vision loss
  • Macular edema

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Retinitis Pigmentosa 11; Rp11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
PRPF31 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PRPF31
Specificity
100 %
Genes
100 %
PRPF31 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PRPF31
Specificity
100 %
Genes
100 %
PRPF31 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PRPF31
Specificity
100 %
Genes
100 %
PRPF31 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PRPF31
Specificity
100 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
PRPF31.

By Institute for Human Genetics University Clinic Freiburg (Germany).

PRPF31
Specificity
100 %
Genes
100 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, BEST1, RPGRIP1, CA4, CDHR1, PRPF31, KLHL7, PRPF8, PRPF3 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %

You can get up to 37 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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