PRPH2 gene related symptoms and diseases

All the information presented here about the PRPH2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PRPH2 gene

Symptoms // Phenotype % Cases
Photophobia Uncommon - Between 30% and 50% cases
Nyctalopia Uncommon - Between 30% and 50% cases
Macular degeneration Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
Reduced visual acuity Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PRPH2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Rod-cone dystrophy
  • Macular dystrophy
  • Rarely - Less than 30% cases

  • Visual loss
  • Visual impairment
  • Abnormality of color vision
  • Metamorphopsia
  • Geographic atrophy
  • Chorioretinal atrophy

And 70 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PRPH2 gene

Here you will find a list of rare diseases related to the PRPH2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MACULAR DYSTROPHY, PATTERNED, 1; MDPT1


Alternate names

MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 Is also known as patterned dystrophy of retinal pigment epithelium, macular dystrophy, butterfly-shaped pigmentary, butterfly dystrophy of retinal pigment epithelium

Description

Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa (RP; see {268000})-like changes have sometimes been observed in association with patterned dystrophies (summary by Vaclavik et al., 2012).Three main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy (see {179840} and {267800}), macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea. Genetic Heterogeneity of Patterned Macular DystrophyAlso see MDPT2 (OMIM ), caused by mutation in the CTNNA1 gene (OMIM ) on chromosome 5q31; and MDPT3 (OMIM ), caused by mutation in the MAPKAPK3 gene (OMIM ) on chromosome 3p21.

Most common symptoms of MACULAR DYSTROPHY, PATTERNED, 1; MDPT1

  • Blindness
  • Rod-cone dystrophy
  • Photophobia
  • Scarring
  • Nyctalopia


More info about MACULAR DYSTROPHY, PATTERNED, 1; MDPT1

SOURCES: ORPHANET OMIM

RETINITIS PIGMENTOSA 7; RP7


Most common symptoms of RETINITIS PIGMENTOSA 7; RP7

  • Blindness
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Pallor
  • Nyctalopia


More info about RETINITIS PIGMENTOSA 7; RP7

SOURCES: OMIM

RETINITIS PIGMENTOSA


Description

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Most common symptoms of RETINITIS PIGMENTOSA

  • Intellectual disability
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment


More info about RETINITIS PIGMENTOSA

SOURCES: ORPHANET

RETINITIS PUNCTATA ALBESCENS



More info about RETINITIS PUNCTATA ALBESCENS

SOURCES: ORPHANET

FUNDUS ALBIPUNCTATUS


Description

Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.


More info about FUNDUS ALBIPUNCTATUS

SOURCES: ORPHANET

CONE ROD DYSTROPHY


Alternate names

CONE ROD DYSTROPHY Is also known as human retinal gene 4, hrg4

Description

Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies.

Most common symptoms of CONE ROD DYSTROPHY

  • Visual impairment
  • Photophobia
  • Nyctalopia
  • Retinal degeneration
  • Abnormality of retinal pigmentation


More info about CONE ROD DYSTROPHY

SOURCES: ORPHANET OMIM

STARGARDT DISEASE


Alternate names

STARGARDT DISEASE Is also known as fundus flavimaculatus, stargardt 1

Description

Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.

Most common symptoms of STARGARDT DISEASE

  • Reduced visual acuity
  • Nyctalopia
  • Macular degeneration
  • Abnormality of color vision
  • Central scotoma


More info about STARGARDT DISEASE

SOURCES: ORPHANET

CENTRAL AREOLAR CHOROIDAL DYSTROPHY


Alternate names

CENTRAL AREOLAR CHOROIDAL DYSTROPHY Is also known as choroidal dystrophy, central areolar, choroidal sclerosis, cacd, central areolar choroidal sclerosis, areolar atrophy of the macula

Description

Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.

Most common symptoms of CENTRAL AREOLAR CHOROIDAL DYSTROPHY

  • Visual loss
  • Abnormal retinal morphology
  • Choriocapillaris atrophy


More info about CENTRAL AREOLAR CHOROIDAL DYSTROPHY

SOURCES: OMIM ORPHANET

ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY


Alternate names

ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY Is also known as adult-onset foveomacular dystrophy, gass disease, pseudo-vitelliform macular dystrophy, adult-onset vitelliform macular dystrophy, pseudo-best disease, vitelliform macular dystrophy, adult-onset, foveomacular dystrophy, adult-onset, adult-onset foveomacular dyst

Description

Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.

Most common symptoms of ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY

  • Visual impairment
  • Visual loss
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Photophobia


More info about ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY

SOURCES: ORPHANET OMIM

CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2


Alternate names

CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2 Is also known as macular dystrophy, progressive

Description

Central areolar choroidal dystrophy (CACD) is a hereditary retinal disorder that principally affects the macula, often resulting in a well-defined area of atrophy of the retinal pigment epithelium (RPE) and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years (summary by Boon et al., 2009).For a discussion of genetic heterogeneity of central areolar choroidal dystrophy, see CACD1 (OMIM ).

Most common symptoms of CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2

  • Blindness
  • Visual loss
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Photophobia


More info about CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2

SOURCES: MESH OMIM

BUTTERFLY-SHAPED PIGMENT DYSTROPHY


Alternate names

BUTTERFLY-SHAPED PIGMENT DYSTROPHY Is also known as butterfly-shaped pigmentary macular dystrophy, butterfly-shaped pattern dystrophy

Description

Butterfly-shaped pigment dystrophy is a patterned dystrophy of the retinal pigment epithelium (see this term) characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.


More info about BUTTERFLY-SHAPED PIGMENT DYSTROPHY

SOURCES: ORPHANET

MULTIFOCAL PATTERN DYSTROPHY SIMULATING FUNDUS FLAVIMACULATUS


Alternate names

MULTIFOCAL PATTERN DYSTROPHY SIMULATING FUNDUS FLAVIMACULATUS Is also known as multifocal pattern dystrophy simulating stargardt disease

Description

Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium (see this term) characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease (see this term), and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.


More info about MULTIFOCAL PATTERN DYSTROPHY SIMULATING FUNDUS FLAVIMACULATUS

SOURCES: ORPHANET


Potential gene panels for PRPH2 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

PRPH2 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PRPH2 gene.

More info about this panel

PRPH2 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PRPH2 gene.

More info about this panel

PRPH2 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PRPH2 gene.

More info about this panel

PRPH2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PRPH2 gene.

More info about this panel

Cone-Rod Dystrophy Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Cone-Rod Dystrophy Panel that also includes the following genes: RPGR CNNM4 SEMA4A TULP1 CFAP410 BEST1 RPGRIP1 CACNA1F CDHR1 RIMS1

More info about this panel

Leber Congenital Amaurosis Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7 CRB1

More info about this panel

Macular Degeneration Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Macular Degeneration Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RAX2 IMPG2 HMCN1

More info about this panel

Retinitis Pigmentosa Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Amyotrophic Lateral Sclerosis Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Amyotrophic Lateral Sclerosis that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART

More info about this panel

PRPH2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the PRPH2 gene.

More info about this panel

Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

PRPH2 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the PRPH2 gene.

More info about this panel

PRPH2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PRPH2 gene.

More info about this panel

Best Vitelliform Macular Dystrophy (deletion/duplication analysis of BEST1 and PRPH2 genes) Panel

Portugal.

By CGC Genetics Best Vitelliform Macular Dystrophy (deletion/duplication analysis of BEST1 and PRPH2 genes) that also includes the following genes: BEST1 PRPH2

More info about this panel

Best Vitelliform Macular Dystrophy (sequence analysis of BEST1 and PRPH2 genes) Panel

Portugal.

By CGC Genetics Best Vitelliform Macular Dystrophy (sequence analysis of BEST1 and PRPH2 genes) that also includes the following genes: BEST1 PRPH2

More info about this panel

Choriodal dystrophy, central areolar 2 (sequence analysis of PRPH2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PRPH2 gene.

More info about this panel

Cone-rod dystrophy (NGS panel of 36 genes) Panel

Portugal.

By CGC Genetics Cone-rod dystrophy (NGS panel of 36 genes) that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Leber congenital amaurosis (NGS panel for 20 genes) Panel

Portugal.

By CGC Genetics Leber congenital amaurosis (NGS panel for 20 genes) that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1

More info about this panel

Stargardt disease and macular distrophy (NGS panel for 14 genes) Panel

Portugal.

By CGC Genetics Stargardt disease and macular distrophy (NGS panel for 14 genes) that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4

More info about this panel

Retinitis pigmentosa (NGS panel for 72 genes) Panel

Portugal.

By CGC Genetics Retinitis pigmentosa (NGS panel for 72 genes) that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes) Panel

Portugal.

By CGC Genetics Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes) that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A BEST1 CA4

More info about this panel

Retinitis pigmentosa (delection/duplication analysis on BEST1 and PRPH2 genes) Panel

Portugal.

By CGC Genetics Retinitis pigmentosa (delection/duplication analysis on BEST1 and PRPH2 genes) that also includes the following genes: BEST1 PRPH2

More info about this panel

Macular dystrophy (sequence analysis of PRPH2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PRPH2 gene.

More info about this panel

Retinitis punctata albescens (sequence analysis of PRPH2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PRPH2 gene.

More info about this panel

Retinitis punctata albescens (sequence analysis of PRPH2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PRPH2 gene.

More info about this panel

Macular dystrophy (sequence analysis of PRPH2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PRPH2 gene.

More info about this panel

Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection that also includes the following genes: RHO ROM1 RP1 RPE65 SEMA4A BEST1 CA4 C1QTNF5 PRPF31 KLHL7

More info about this panel

Leber Congenital Amaurosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leber Congenital Amaurosis Sequencing Panel with CNV Detection that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 INPP5E CNGA3

More info about this panel

Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR SAG SEMA4A TULP1

More info about this panel

Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 RPGRIP1 C1QTNF5 ELOVL4 RP1L1 CDH3

More info about this panel

Flecked Retina Disorder Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Flecked Retina Disorder Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 RS1 ELOVL4 CHM VPS13B EFEMP1 ABCA4 LRAT PLA2G5

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Cone-Rod Dystrophy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cone-Rod Dystrophy Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Retinitis Pigmentosa via PRPH2 (RDS) Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PRPH2 gene.

More info about this panel

Leber congenital amaurosis and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Comprehensive panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7

More info about this panel

Leber congenital amaurosis and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Deletion / Duplication panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7

More info about this panel

Leber congenital amaurosis and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders NGS panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7

More info about this panel

PRPH2-Related Retinitis Pigmentosa Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the PRPH2 gene.

More info about this panel

Fundus albipunctatus Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PRPH2 gene.

More info about this panel

Macular dystrophy, vitelliform Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PRPH2 gene.

More info about this panel

Patterned dystrophy of retinal pigment epithelium Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PRPH2 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

ALS panel Panel

Germany.

By Centogene AG - the Rare Disease Company ALS panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART

More info about this panel

Choroidal dystrophy, central areolar type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PRPH2 gene.

More info about this panel

Retinitis pigmentosa type 7, autosomal dominant Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PRPH2 gene.

More info about this panel

Macular dystrophy Panel

United Kingdom.

By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust

This panel specifically test the PRPH2 gene.

More info about this panel

Retinitis pigmentosa, autosomal dominant and X-linked Panel Panel

Germany.

By CeGaT GmbH Retinitis pigmentosa, autosomal dominant and X-linked Panel that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A SPP2 BEST1

More info about this panel

Cone Rod Dystrophies Panel Panel

Germany.

By CeGaT GmbH Cone Rod Dystrophies Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Stargardt Disease and Macular Dystrophies Panel Panel

Germany.

By CeGaT GmbH Stargardt Disease and Macular Dystrophies Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 IMPG2 TTLL5 RDH12

More info about this panel

Leber Congenital Amaurosis Panel Panel

Germany.

By CeGaT GmbH Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1

More info about this panel

Single gene testing PRPH2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the PRPH2 gene.

More info about this panel

Vitelliform Macular Dystrophy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Vitelliform Macular Dystrophy that also includes the following genes: BEST1 IMPG1 PRPH2

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Autosomal Dominant Retinitis Pigmentosa Panel

Estonia.

By Asper Biogene Asper Biogene LLC Autosomal Dominant Retinitis Pigmentosa that also includes the following genes: RHO ROM1 RP1 RP9 RPE65 SEMA4A BEST1 CA4 PRPF31 KLHL7

More info about this panel

Cone-Rod Dystrophy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cone-Rod Dystrophy that also includes the following genes: RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1 RAX2

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Stargardt Panel Panel

United States.

By Molecular Vision Laboratory Stargardt Panel that also includes the following genes: TIMP3 BEST1 ELOVL4 RP1L1 CDH3 IMPG2 TTLL5 DRAM2 EFEMP1 ABCA4

More info about this panel

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Cone Rod Dystrophy panel Panel

United States.

By Molecular Vision Laboratory Cone Rod Dystrophy panel that also includes the following genes: RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CACNA1F CDHR1 RIMS1 RAX2 KCNV2

More info about this panel

Leber congenital amaurosis panel Panel

United States.

By Molecular Vision Laboratory Leber congenital amaurosis panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX

More info about this panel

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

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Retinitis pigmentosa 7 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PRPH2 gene.

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PRPH2 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the PRPH2 gene.

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Retinitis pigmentosa 7 Panel

Slovakia.

By MedGene

This panel specifically test the PRPH2 gene.

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Invitae Leber Congenital Amaurosis Panel Panel

United States.

By Invitae Invitae Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1

More info about this panel

Fundus albipunctatus: PRPH2 (RDS) gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PRPH2 gene.

More info about this panel

Macular dystrophy:PRPH2 (RDS) gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PRPH2 gene.

More info about this panel

STARGARDT SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases STARGARDT SYNDROME that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4

More info about this panel

RETINITIS PIGMENTOSA A.D Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases RETINITIS PIGMENTOSA A.D that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A BEST1 CA4

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RETINITIS PIGMENTOSA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases RETINITIS PIGMENTOSA that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

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Cone rod dystrophy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Cone rod dystrophy that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

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Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

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Flecked-retina Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Flecked-retina Disorders: Sequencing Panel that also includes the following genes: RHO RLBP1 ABCA4 PLA2G5 RDH5 PRPH2

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Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel that also includes the following genes: RPGR TIMP3 BEST1 RPGRIP1 ELOVL4 CDH3 RDH12 CNGB3 EFEMP1 ABCA4

More info about this panel

Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

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Retina/Photoreceptor Dystrophy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

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Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

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Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

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Flecked-retina Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Flecked-retina Disorders: Deletion/Duplication Panel that also includes the following genes: RHO RLBP1 ABCA4 PLA2G5 RDH5 PRPH2

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Eye Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

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Macular Degeneration NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Macular Degeneration NGS Panel that also includes the following genes: RLBP1 RPGR CFB TLR4 C2 C3 ELOVL4 RAX2 HMCN1 CNGB3

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Retinitis Pigmentosa NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Retinitis Pigmentosa NGS Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

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PRPH2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PRPH2 gene.

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Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

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Flecked Retina Disorders Panel Panel

Finland.

By Blueprint Genetics Flecked Retina Disorders Panel that also includes the following genes: RHO RLBP1 RS1 ELOVL4 CHM VPS13B CYP4V2 ABCA4 PLA2G5 PROM1

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Macular Dystrophy Panel Panel

Finland.

By Blueprint Genetics Macular Dystrophy Panel that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 PRDM13 C1QTNF5 ELOVL4 RP1L1 CDH3

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Cone Rod Dystrophy Panel Panel

Finland.

By Blueprint Genetics Cone Rod Dystrophy Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1

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Retinitis Pigmentosa Panel Panel

Finland.

By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27

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Vitelliform macular dystrophy, adult-onset Panel

Spain.

By Bioarray

This panel specifically test the PRPH2 gene.

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FOVEOMACULAR VITELLIFORM DYSTROPHY Panel

Spain.

By Laboratorio de Genetica Clinica SL FOVEOMACULAR VITELLIFORM DYSTROPHY that also includes the following genes: BEST1 PRPH2

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RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT) that also includes the following genes: RHO RP1 PRPF31 PRPF3 RDH12 IMPDH1 PRPH2

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RETINITIS PUNCTATA ALBESCENS Panel

Spain.

By Laboratorio de Genetica Clinica SL RETINITIS PUNCTATA ALBESCENS that also includes the following genes: RHO RLBP1 RDH5 PRPH2

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LEBER CONGENITAL AMAUROSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL LEBER CONGENITAL AMAUROSIS NGS PANEL that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 PMPCA RD3 RDH12 SPATA7 CRB1

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CONE-ROD DYSTROPHY Panel

Spain.

By Laboratorio de Genetica Clinica SL CONE-ROD DYSTROPHY that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

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RETINITIS PIGMENTOSA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL RETINITIS PIGMENTOSA NGS PANEL that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

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Patterned Macular Dystrophy Type 1 , Sequencing PRPH2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PRPH2 gene.

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Fundus Albipunctatus, Sequencing PRPH2 (RDS) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PRPH2 gene.

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Vitelliform Macular Dystrophy, Deletions-Duplications (MLPA) BEST1,PRPH2 Genes Panel

Spain.

By Reference Laboratory Genetics Vitelliform Macular Dystrophy, Deletions-Duplications (MLPA) BEST1,PRPH2 Genes that also includes the following genes: BEST1 PRPH2

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Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A BEST1 CA4

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Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes Panel

Spain.

By Reference Laboratory Genetics Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

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Stargardt Disease , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Stargardt Disease , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: ELOVL4 CNGB3 ABCA4 PROM1 PRPH2

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Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes Panel

Spain.

By Reference Laboratory Genetics Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

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Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4 FSCN2

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Fundus Albipunctatus, Panel Massive Sequencing (NGS) PRPH2, RDH5, RHO, RLBP1 Genes Panel

Spain.

By Reference Laboratory Genetics Fundus Albipunctatus, Panel Massive Sequencing (NGS) PRPH2, RDH5, RHO, RLBP1 Genes that also includes the following genes: RHO RLBP1 RDH5 PRPH2

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Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel that also includes the following genes: RHO ROM1 RP1 RP9 RPE65 SEMA4A SPP2 BEST1 CA4 PRPF31

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