Retinitis Pigmentosa 50; Rp50

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 50; Rp50

  • Rod-cone dystrophy
  • Reduced visual acuity
  • Nyctalopia
  • Retinal detachment
  • Optic disc pallor
  • Abnormal electroretinogram
  • Attenuation of retinal blood vessels
  • Retinal flecks

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including juvenile 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 50; Rp50 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
BEST1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

BEST1
Specificity
100 %
Genes
100 %
BEST1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

BEST1
Specificity
100 %
Genes
100 %
BEST1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

BEST1
Specificity
100 %
Genes
100 %
BEST1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

BEST1
Specificity
100 %
Genes
100 %
MitoMetĀ®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 %
Cone-Rod Dystrophy Panel.

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

RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Macular Degeneration Panel.

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

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Optic Atrophy and Early Glaucoma Panel.

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

SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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