Retinitis Pigmentosa 78; Rp78

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 78; Rp78

  • Rod-cone dystrophy
  • Reduced visual acuity
  • Pallor
  • Nyctalopia
  • Retinal degeneration
  • Optic disc pallor
  • Visual field defect
  • Cystoid macular edema
  • Photopsia

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 78; Rp78 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ARHGEF18.

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

ARHGEF18
Specificity
100 %
Genes
100 %
ARHGEF18.

By Fulgent Genetics Fulgent Genetics (United States).

ARHGEF18
Specificity
100 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics (Finland).

RGS9, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, CNNM4, SAG, CWC27, SDCCAG8, SEMA4A, SLC24A1, SPP2, TEAD1, ACO2, TIMM8A, TIMP3 , (...)

View the complete list with 239 more genes
Specificity
1 %
Genes
100 %
Cone Rod Dystrophy Panel.

By Blueprint Genetics (Finland).

RGS9, RPGR, CNNM4, SEMA4A, CFAP410, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, ARHGEF18, ADAMTS18, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, CLN3, PITPNM3, CNGA3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics (Finland).

RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, SAG, CWC27, SEMA4A, SPP2, TTPA, TUB, TULP1, USH1C, CFAP410, USH2A, CLRN1, BEST1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
RETINITIS PIGMENTOSA NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, CLRN1, BEST1, ARL6, CA4, CDHR1, PRPF31, KLHL7, PRPF6 , (...)

View the complete list with 51 more genes
Specificity
2 %
Genes
100 %

You can get up to -2 more panels with our dedicated tool

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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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