Retinitis Pigmentosa 44; Rp44

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 44; Rp44

  • Visual impairment
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Retinal degeneration
  • Constriction of peripheral visual field
  • Congenital blindness
  • Attenuation of retinal blood vessels
  • Decreased light- and dark-adapted electroretinogram amplitude
  • Retinal pigment epithelial atrophy

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 44; Rp44 Recommended genes panels

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

By Baylor Miraca Genetics Laboratories (United States).

RGR
Specificity
100 %
Genes
100 %
RGR Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

RGR
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 %
RGR.

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

RGR
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 33 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 Search Engine

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