Retinitis Pigmentosa 3; Rp3

Description

X-linked retinitis pigmentosa (XLRP) is a severe form of inherited retinal degeneration that primarily affects the rod photoreceptors (Demirci et al., 2002). It typically causes an early-onset night blindness and loss of peripheral vision, often causing patients to become legally blind by the age of 30 to 40 years. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe RP (Jin et al., 2007). Mutation in the RPGR gene is believed to account for approximately 70% of XLRP (Vervoort et al., 2000).For a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.

Clinical Features

Top most frequent phenotypes and symptoms related to Retinitis Pigmentosa 3; Rp3

  • Intellectual disability
  • Visual impairment
  • Myopia
  • Optic atrophy
  • Blindness
  • Intellectual disability, mild
  • Rod-cone dystrophy
  • Pallor
  • Nyctalopia
  • Muscular dystrophy

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

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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.

Alternative names

Retinitis Pigmentosa 3; Rp3 Is also known as rp15, retinitis pigmentosa 15, cone-rod degeneration, x-linked, choroidoretinal degeneration with retinal reflex in heterozygous women.

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 3; Rp3 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 %
RPGR Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RPGR
Specificity
100 %
Genes
100 %
RPGR Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

RPGR
Specificity
100 %
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 %
Comprehensive Pulmonary Panel.

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

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %

You can get up to 98 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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