Retinitis Pigmentosa 69; Rp69

Description

Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by El Shamieh et al., 2014).For a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.

Clinical Features

Top most frequent phenotypes and symptoms related to Retinitis Pigmentosa 69; Rp69

  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Ichthyosis
  • Abnormality of skin pigmentation
  • Pigmentary retinopathy
  • Cone/cone-rod dystrophy
  • Constriction of peripheral visual field
  • Abnormality of color vision
  • Scotoma

And another 2 symptoms. If you need more information about this disease we can help you.

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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.


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Retinitis Pigmentosa 69; Rp69 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
KIZ.

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

KIZ
Specificity
100 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Autosomal Recessive Retinitis Pigmentosa 69 (RP69) via KIZ Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

KIZ
Specificity
100 %
Genes
100 %
Retinitis pigmentosa, autosomal recessive and X-linked Panel.

By CeGaT GmbH (Germany).

RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, TUB, TULP1, USH2A, CLRN1, BEST1, ADGRA3, CDHR1, PRPF31, KIZ, RP1L1, ARL2BP, DHX38, NMNAT1 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 265 more genes
Specificity
1 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
KIZ.

By Fulgent Genetics Fulgent Genetics (United States).

KIZ
Specificity
100 %
Genes
100 %

We have 3 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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