Retinitis Pigmentosa 58; Rp58

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 58; Rp58

  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Optic disc pallor
  • Severe vision loss
  • Peripheral visual field loss
  • Attenuation of retinal blood vessels
  • Bone spicule pigmentation of the retina
  • Progressive night blindness
  • Abnormal light- and dark-adapted electroretinogram

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 58; Rp58 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ZNF513 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ZNF513
Specificity
100 %
Genes
100 %
ZNF513 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ZNF513
Specificity
100 %
Genes
100 %
ZNF513 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ZNF513
Specificity
100 %
Genes
100 %
ZNF513 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ZNF513
Specificity
100 %
Genes
100 %
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 %
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 %
ZNF513.

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

ZNF513
Specificity
100 %
Genes
100 %
Retinitis pigmentosa 58 (sequence analysis of ZNF513 gene).

By CGC Genetics (Portugal).

ZNF513
Specificity
100 %
Genes
100 %

You can get up to 27 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

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