Retinitis Pigmentosa 38; Rp38

Description

Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by Mackay et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.

Clinical Features

Top most frequent phenotypes and symptoms related to Retinitis Pigmentosa 38; Rp38

  • Hearing impairment
  • Visual impairment
  • Blindness
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Photophobia
  • Nyctalopia
  • Retinal degeneration
  • Retinal dystrophy
  • Progressive visual loss

And another 9 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Retinitis Pigmentosa 38; Rp38 Is also known as rod-cone dystrophy, childhood-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 38; Rp38 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 %
MERTK Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

MERTK
Specificity
100 %
Genes
100 %
MERTK Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

MERTK
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 %
MERTK.

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

MERTK
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 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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