Choroidal Dystrophy, Central Areolar 2; Cacd2

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 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Choroidal Dystrophy, Central Areolar 2; Cacd2

  • Pica
  • Blindness
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Visual loss
  • Photophobia
  • Nyctalopia
  • Ranula
  • Macular degeneration
  • Cone/cone-rod dystrophy
And another 8 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.


Mendelian

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Choroidal Dystrophy, Central Areolar 2; Cacd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
PRPH2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
100 %
PRPH2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
100 %
PRPH2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
100 %
PRPH2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
100 %
Cone-Rod Dystrophy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, TULP1, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Leber Congenital Amaurosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5, NMNAT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Macular Degeneration Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

BEST1, FBLN5, ELOVL4, ABCA4, OTX2, CNGB3, PRPH2, RPGR, PROM1, GUCA1B, RP1L1, IMPG2, FSCN2, C1QTNF5, TIMP3, EFEMP1, MFSD8, RAX2, CTNNA1, DRAM2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Amyotrophic Lateral Sclerosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

OPTN, PRPH2, VCP, SOD1, NEFH, FIG4, C9orf72, ATXN2, SPART, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
PRPH2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PRPH2
Specificity
100 %
Genes
100 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

AIPL1, BEST1, SPATA7, RP1, ABCA4, CEP290, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
PRPH2 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

PRPH2
Specificity
100 %
Genes
100 %
PRPH2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PRPH2
Specificity
100 %
Genes
100 %
Best Vitelliform Macular Dystrophy (deletion/duplication analysis of BEST1 and PRPH2 genes).

By CGC Genetics in Portugal.

BEST1, PRPH2
Specificity
50 %
Genes
100 %
Best Vitelliform Macular Dystrophy (sequence analysis of BEST1 and PRPH2 genes).

By CGC Genetics in Portugal.

BEST1, PRPH2
Specificity
50 %
Genes
100 %
Choriodal dystrophy, central areolar 2 (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
100 %
Cone-rod dystrophy (NGS panel of 36 genes).

By CGC Genetics in Portugal.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Leber congenital amaurosis (NGS panel for 20 genes).

By CGC Genetics in Portugal.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, IQCB1, LCA5, NMNAT1, GDF6
Specificity
5 %
Genes
100 %
Stargardt disease and macular distrophy (NGS panel for 14 genes).

By CGC Genetics in Portugal.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, RP1L1, RDH12, FSCN2, C1QTNF5, TIMP3, IMPG1, CDH3
Specificity
8 %
Genes
100 %
Retinitis pigmentosa (NGS panel for 72 genes).

By CGC Genetics in Portugal.

ZNF513, BEST1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes).

By CGC Genetics in Portugal.

BEST1, RP1, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Retinitis pigmentosa (delection/duplication analysis on BEST1 and PRPH2 genes).

By CGC Genetics in Portugal.

BEST1, PRPH2
Specificity
50 %
Genes
100 %
Macular dystrophy (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
100 %
Retinitis punctata albescens (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
100 %
Retinitis punctata albescens (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
100 %
Macular dystrophy (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
100 %
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BEST1, PRKCG, RP1, PRPH2, RPE65, RHO, PDE6B, IMPDH1, CRX, CRB1, PRPF6, GUCA1B, NRL, KLHL7, SNRNP200, SEMA4A, TOPORS, FSCN2, C1QTNF5, LCA5 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIPL1, SPATA7, INPP5E, OTX2, CNGB3, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, GNAT2, LRAT, RDH12, RD3 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, CACNA1F, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGRIP1, RPGR, RLBP1, PROM1, CRB1, GUCA1B, RS1, RP1L1, IMPG2, RDH12, CERKL, FSCN2, C1QTNF5, TIMP3, EFEMP1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Flecked Retina Disorder Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHM, ELOVL4, ABCA4, PRPH2, RLBP1, RHO, PROM1, RS1, LRAT, RDH5, EFEMP1, VPS13B, PLA2G5
Specificity
8 %
Genes
100 %
Cone-Rod Dystrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Retinitis Pigmentosa via the PRPH2 (RDS) Gene.

By PreventionGenetics PreventionGenetics in United States.

PRPH2
Specificity
100 %
Genes
100 %
Leber congenital amaurosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Leber congenital amaurosis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Leber congenital amaurosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
PRPH2-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

PRPH2
Specificity
100 %
Genes
100 %
Fundus albipunctatus.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
100 %
Macular dystrophy, vitelliform.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
100 %
Patterned dystrophy of retinal pigment epithelium.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
ALS panel.

By Centogene AG - the Rare Disease Company in Germany.

OPTN, PRPH2, VCP, SOD1, NEFH, FIG4, C9orf72, ATXN2, SPART, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Choroidal dystrophy, central areolar type 2.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
100 %
Retinitis pigmentosa type 7, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
100 %
Macular dystrophy.

By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust in United Kingdom.

PRPH2
Specificity
100 %
Genes
100 %
Retinitis pigmentosa, autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

BEST1, RP1, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Cone Rod Dystrophies Panel.

By CeGaT GmbH in Germany.

AIPL1, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, GNAT2, CDHR1, PCARE, PDE6C, ADAM9, CACNA2D4, CABP4 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Stargardt Disease and Macular Dystrophies Panel.

By CeGaT GmbH in Germany.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, CRX, CRB1, RP1L1, IMPG2, RDH12, FSCN2, C1QTNF5, CLN3, TIMP3, MFSD8, TTLL5, CTNNA1, DRAM2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Leber Congenital Amaurosis Panel.

By CeGaT GmbH in Germany.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, IQCB1, LCA5, RDH5, NMNAT1
Specificity
5 %
Genes
100 %
Single gene testing PRPH2.

By CeGaT GmbH in Germany.

PRPH2
Specificity
100 %
Genes
100 %
Vitelliform Macular Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

BEST1, PRPH2
Specificity
50 %
Genes
100 %
Autosomal Dominant Retinitis Pigmentosa.

By Asper Biogene Asper Biogene LLC in Estonia.

AIPL1, BEST1, PRKCG, RP1, PRPH2, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Cone-Rod Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Stargardt Panel.

By Molecular Vision Laboratory in United States.

BEST1, ELOVL4, ABCA4, PRPH2, PROM1, RP1L1, IMPG2, TIMP3, EFEMP1, TTLL5, DRAM2, IMPG1, CDH3
Specificity
8 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
Cone Rod Dystrophy panel.

By Molecular Vision Laboratory in United States.

AIPL1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2, SEMA4A, CERKL, RIMS1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Leber congenital amaurosis panel.

By Molecular Vision Laboratory in United States.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5, NMNAT1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
Retinitis pigmentosa 7.

By Praxis fuer Humangenetik Wien in Austria.

PRPH2
Specificity
100 %
Genes
100 %
PRPH2.

By Division Human Genetics Medical University Innsbruck in Austria.

PRPH2
Specificity
100 %
Genes
100 %
Retinitis pigmentosa 7.

By MedGene in Slovakia.

PRPH2
Specificity
100 %
Genes
100 %
Invitae Leber Congenital Amaurosis Panel.

By Invitae in United States.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, IQCB1, LCA5, NMNAT1, GDF6
Specificity
6 %
Genes
100 %
Fundus albipunctatus: PRPH2 (RDS) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PRPH2
Specificity
100 %
Genes
100 %
Macular dystrophy:PRPH2 (RDS) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PRPH2
Specificity
100 %
Genes
100 %
STARGARDT SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, RP1L1, RDH12, FSCN2, C1QTNF5, TIMP3, CDH3
Specificity
8 %
Genes
100 %
RETINITIS PIGMENTOSA A.D.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

BEST1, RP1, ABCA4, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
RETINITIS PIGMENTOSA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Cone rod dystrophy.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Flecked-retina Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCA4, PRPH2, RLBP1, RHO, RDH5, PLA2G5
Specificity
17 %
Genes
100 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
100 %
Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCA1B, RDH12, FSCN2, TIMP3, EFEMP1, CDH3, RBP4
Specificity
7 %
Genes
100 %
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Flecked-retina Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCA4, PRPH2, RLBP1, RHO, RDH5, PLA2G5
Specificity
17 %
Genes
100 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)

View the complete list with 118 more genes
Specificity
1 %
Genes
100 %
Macular Degeneration NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, TLR4, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, RLBP1, EFEMP1, HTRA1, RAX2, HMCN1, ERCC6, CFB, CFI, CFH, C3, C2, CST3, CX3CR1
Specificity
5 %
Genes
100 %
Retinitis Pigmentosa NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, RP1, WFS1, ABCA4, CACNA1F, ARL6, NPHP3, NPHP1, MKKS, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
PRPH2.

By Fulgent Genetics Fulgent Genetics in United States.

PRPH2
Specificity
100 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
Flecked Retina Disorders Panel.

By Blueprint Genetics in Finland.

CHM, ELOVL4, ABCA4, PRPH2, RLBP1, RHO, PROM1, RS1, CYP4V2, RDH5, VPS13B, PLA2G5
Specificity
9 %
Genes
100 %
Macular Dystrophy Panel.

By Blueprint Genetics in Finland.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, RLBP1, PROM1, CRX, CRB1, RS1, RP1L1, IMPG2, RDH12, CERKL, C1QTNF5, TIMP3, RDH5, EFEMP1, MFSD8 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Cone Rod Dystrophy Panel.

By Blueprint Genetics in Finland.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, MERTK, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Vitelliform macular dystrophy, adult-onset.

By Bioarray in Spain.

PRPH2
Specificity
100 %
Genes
100 %
FOVEOMACULAR VITELLIFORM DYSTROPHY.

By Laboratorio de Genetica Clinica SL in Spain.

BEST1, PRPH2
Specificity
50 %
Genes
100 %
RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

RP1, PRPH2, RHO, IMPDH1, PRPF31, PRPF3
Specificity
17 %
Genes
100 %
RETINITIS PUNCTATA ALBESCENS.

By Laboratorio de Genetica Clinica SL in Spain.

PRPH2, RLBP1, RHO, RDH5
Specificity
25 %
Genes
100 %
Patterned Macular Dystrophy Type 1 , Sequencing PRPH2 Gene.

By Reference Laboratory Genetics in Spain.

PRPH2
Specificity
100 %
Genes
100 %
Fundus Albipunctatus, Sequencing PRPH2 (RDS) Gene.

By Reference Laboratory Genetics in Spain.

PRPH2
Specificity
100 %
Genes
100 %
Vitelliform Macular Dystrophy, Deletions-Duplications (MLPA) BEST1,PRPH2 Genes.

By Reference Laboratory Genetics in Spain.

BEST1, PRPH2
Specificity
50 %
Genes
100 %
Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes.

By Reference Laboratory Genetics in Spain.

BEST1, RP1, ABCA4, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Stargardt Disease , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

ELOVL4, ABCA4, CNGB3, PRPH2, PROM1
Specificity
20 %
Genes
100 %
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes.

By Reference Laboratory Genetics in Spain.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, PROM1, RP1L1, RDH12, FSCN2, C1QTNF5, TIMP3, CDH3
Specificity
9 %
Genes
100 %
Fundus Albipunctatus, Panel Massive Sequencing (NGS) PRPH2, RDH5, RHO, RLBP1 Genes.

By Reference Laboratory Genetics in Spain.

PRPH2, RLBP1, RHO, RDH5
Specificity
25 %
Genes
100 %
Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BEST1, RP1, PRPH2, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31, PRPF8, HK1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %

Alternate names

Choroidal Dystrophy, Central Areolar 2; Cacd2 Is also known as macular dystrophy, progressive.



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