Retinitis Pigmentosa 1; Rp1

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 1; Rp1

  • Myopia
  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • High myopia
  • Constriction of peripheral visual field
  • Retinal atrophy
  • Bone spicule pigmentation of the retina
  • Undetectable 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 1; Rp1 Recommended genes panels

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

By Baylor Miraca Genetics Laboratories (United States).

RHO
Specificity
100 %
Genes
50 %
RHO Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RHO
Specificity
100 %
Genes
50 %
RHO Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RHO
Specificity
100 %
Genes
50 %
RHO Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

RHO
Specificity
100 %
Genes
50 %
Congenital Stationary Night Blindness Panel.

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

RHO, GRK1, SAG, SLC24A1, CABP4, CACNA1F, LRIT3, GPR179, GNAT1, GNB3, GRM6, TRPM1, NYX, PDE6B, RDH5
Specificity
7 %
Genes
50 %
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
3 %
Genes
100 %
RHO.

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

RHO
Specificity
100 %
Genes
50 %

You can get up to 115 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SULFOCYSTEINURIA DUBIN-JOHNSON SYNDROME; DJS HEREDITARY ACROKERATOTIC POIKILODERMA, WEARY TYPE AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2 METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY