Choroidal Dystrophy, Central Areolar, 1; Cacd1

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). Genetic Heterogeneity of Central Areolar Choroidal DystrophyCACD2 (OMIM ) is caused by mutation in the PRPH2 gene (OMIM ) on chromosome 6p21. See also CACD3 (OMIM ) for a family in which linkage to the PRPH2 gene and chromosome 17p13 has been excluded.

Clinical Features

Phenotypes and symptoms related to Choroidal Dystrophy, Central Areolar, 1; Cacd1

  • Visual loss
  • Abnormal retinal morphology
  • Choriocapillaris atrophy

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Choroidal Dystrophy, Central Areolar, 1; Cacd1 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 %
GUCY2D Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GUCY2D
Specificity
100 %
Genes
34 %
GUCY2D Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GUCY2D
Specificity
100 %
Genes
34 %
GUCY2D Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

GUCY2D
Specificity
100 %
Genes
34 %
Leber Congential Amaurosis Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5, NMNAT1
Specificity
6 %
Genes
34 %
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
9 %
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
9 %
Genes
67 %
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
3 %
Genes
67 %
Ciliopathies.

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

VHL, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
34 %
GUCY2D.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GUCY2D
Specificity
100 %
Genes
34 %
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
4 %
Genes
67 %
GUCY2D Gene Sequencing.

By GeneDx in United States.

GUCY2D
Specificity
100 %
Genes
34 %
GUCY2D. Complete sequencing.

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

GUCY2D
Specificity
100 %
Genes
34 %
GUCY2D. Detection of the mutations in 837, 838 and 839 codons by sequencing.

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

GUCY2D
Specificity
100 %
Genes
34 %
ABCA4, CRX, GUCY2D. NextGeneDx.Complete sequencing by NGS.

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

ABCA4, GUCY2D, CRX
Specificity
34 %
Genes
34 %
Central areolar choroidal dystrophy (sequence analysis of GUCY2D gene).

By CGC Genetics in Portugal.

GUCY2D
Specificity
100 %
Genes
34 %
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
9 %
Genes
100 %
Leber congenital amaurosis 1 (sequence analysis of GUCY2D gene).

By CGC Genetics in Portugal.

GUCY2D
Specificity
100 %
Genes
34 %
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
10 %
Genes
67 %
Leber congenital amaurosis (deletions/duplications of GUCY2D, RDH12, RPGRIP1 and CEP290 genes).

By CGC Genetics in Portugal.

CEP290, RPGRIP1, GUCY2D, RDH12
Specificity
25 %
Genes
34 %
Cone-Rod Dystrophy 6.

By Exeter Molecular Genetics Laboratory in United Kingdom.

GUCY2D
Specificity
100 %
Genes
34 %
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, TULP1, SAG, RPGRIP1, RPE65, RLBP1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
34 %
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
8 %
Genes
67 %
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
3 %
Genes
67 %
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
9 %
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 %
Leber Congenital Amaurosis 1 (LCA1) and Cone-Rod dystrophy 6 (CORD6) via GUCY2D Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GUCY2D
Specificity
100 %
Genes
34 %
Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIPL1, SPATA7, CHM, RP1, OTX2, KCNJ13, CEP290, USH2A, TULP1, RPGRIP1, RPE65, RHO, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, PDE6A, CNGA1, PCARE , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
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
7 %
Genes
67 %
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
7 %
Genes
67 %
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
7 %
Genes
67 %
GUCY2D-Related Leber Congenital Amaurosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

GUCY2D
Specificity
100 %
Genes
34 %
Leber congenital amaurosis type 1.

By Centogene AG - the Rare Disease Company in Germany.

GUCY2D
Specificity
100 %
Genes
34 %
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
8 %
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
10 %
Genes
67 %
Single gene testing GUCY2D.

By CeGaT GmbH in Germany.

GUCY2D
Specificity
100 %
Genes
34 %
Leber Congenital Amaurosis.

By Asper Biogene Asper Biogene LLC in Estonia.

AIPL1, SPATA7, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, LCA5, NMNAT1, GDF6
Specificity
6 %
Genes
34 %
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
10 %
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
2 %
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
2 %
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
10 %
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
9 %
Genes
67 %
GUCY2D single gene sequencing.

By Molecular Vision Laboratory in United States.

GUCY2D
Specificity
100 %
Genes
34 %
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
2 %
Genes
100 %
Cone-rod dystrophy 6.

By Praxis fuer Humangenetik Wien in Austria.

GUCY2D
Specificity
100 %
Genes
34 %
Leber congenital amaurosis 1.

By Praxis fuer Humangenetik Wien in Austria.

GUCY2D
Specificity
100 %
Genes
34 %
GUCY2D.

By Division Human Genetics Medical University Innsbruck in Austria.

GUCY2D
Specificity
100 %
Genes
34 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
34 %
Cone-rod dystrophy 6.

By MedGene in Slovakia.

GUCY2D
Specificity
100 %
Genes
34 %
Leber congenital amaurosis 1.

By MedGene in Slovakia.

GUCY2D
Specificity
100 %
Genes
34 %
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
11 %
Genes
67 %
Leber congenital amaurosis 1: GUCY2D gene sequence analysis.

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

GUCY2D
Specificity
100 %
Genes
34 %
Leber Congenital Amaurosis.

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

AIPL1, SPATA7, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, IQCB1, LCA5, NMNAT1
Specificity
6 %
Genes
34 %
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
10 %
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
9 %
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
2 %
Genes
100 %
Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AIPL1, SPATA7, OTX2, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5
Specificity
6 %
Genes
34 %
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
4 %
Genes
67 %
Ciliopathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
34 %
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
3 %
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
9 %
Genes
100 %
Ciliopathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 76 more genes
Specificity
2 %
Genes
34 %
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
2 %
Genes
100 %
Ciliopathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
34 %
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
3 %
Genes
100 %
Cone-Rod Dystrophy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, RPGRIP1, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2, SEMA4A, CERKL, RIMS1, GUCA1A, PITPNM3 , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
67 %
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
3 %
Genes
67 %
GUCY2D.

By Fulgent Genetics Fulgent Genetics in United States.

GUCY2D
Specificity
100 %
Genes
34 %
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
2 %
Genes
100 %
Leber Congenital Amaurosis Panel.

By Blueprint Genetics in Finland.

AIPL1, SPATA7, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5, MYO7A, CNGA3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
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
8 %
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
2 %
Genes
67 %
Leber congenital amaurosis type 1.

By Bioarray in Spain.

GUCY2D
Specificity
100 %
Genes
34 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
34 %
CONE-ROD DYSTROPHY (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

AIPL1, GUCY2D, CRX, GUCA1A
Specificity
50 %
Genes
67 %
LEBER CONGENITAL AMAUROSIS.

By Laboratorio de Genetica Clinica SL in Spain.

AIPL1, SPATA7, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, LCA5
Specificity
7 %
Genes
34 %
Leber Congenital Amaurosis Type 1, Sequencing GUCY2D Gene.

By Reference Laboratory Genetics in Spain.

GUCY2D
Specificity
100 %
Genes
34 %
Cone Rod Distrophy Type 6 , Sequencing GUCY2D Gene.

By Reference Laboratory Genetics in Spain.

GUCY2D
Specificity
100 %
Genes
34 %
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
10 %
Genes
100 %
Leber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

AIPL1, SPATA7, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, LRAT, RDH12, RD3, IQCB1, LCA5, NMNAT1
Specificity
6 %
Genes
34 %
Cone-rod dystrophy 14 (sequence analysis of GUCA1A gene).

By CGC Genetics in Portugal.

GUCA1A
Specificity
100 %
Genes
34 %
Autosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via GUCA1A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GUCA1A
Specificity
100 %
Genes
34 %
Cone-rod dystrophy type 14.

By Centogene AG - the Rare Disease Company in Germany.

GUCA1A
Specificity
100 %
Genes
34 %
Single gene testing GUCA1A.

By CeGaT GmbH in Germany.

GUCA1A
Specificity
100 %
Genes
34 %
GUCA1A single gene sequencing.

By Molecular Vision Laboratory in United States.

GUCA1A
Specificity
100 %
Genes
34 %
Cone-Rod dystrophy type 14: GUCA1A gene sequence analysis.

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

GUCA1A
Specificity
100 %
Genes
34 %
GUCA1A.

By Fulgent Genetics Fulgent Genetics in United States.

GUCA1A
Specificity
100 %
Genes
34 %
Cone dystrophy.

By Bioarray in Spain.

GUCA1A
Specificity
100 %
Genes
34 %
PRPH2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
34 %
PRPH2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
34 %
PRPH2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
34 %
PRPH2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PRPH2
Specificity
100 %
Genes
34 %
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
34 %
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
34 %
PRPH2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PRPH2
Specificity
100 %
Genes
34 %
PRPH2 mutation analysis.

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

PRPH2
Specificity
100 %
Genes
34 %
PRPH2. Complete sequencing.

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

PRPH2
Specificity
100 %
Genes
34 %
Best Vitelliform Macular Dystrophy (deletion/duplication analysis of BEST1 and PRPH2 genes).

By CGC Genetics in Portugal.

BEST1, PRPH2
Specificity
50 %
Genes
34 %
Best Vitelliform Macular Dystrophy (sequence analysis of BEST1 and PRPH2 genes).

By CGC Genetics in Portugal.

BEST1, PRPH2
Specificity
50 %
Genes
34 %
Choriodal dystrophy, central areolar 2 (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
34 %
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
34 %
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
34 %
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
34 %
Retinitis pigmentosa (delection/duplication analysis on BEST1 and PRPH2 genes).

By CGC Genetics in Portugal.

BEST1, PRPH2
Specificity
50 %
Genes
34 %
Macular dystrophy (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
34 %
Retinitis punctata albescens (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
34 %
Retinitis punctata albescens (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
34 %
Macular dystrophy (sequence analysis of PRPH2 gene).

By CGC Genetics in Portugal.

PRPH2
Specificity
100 %
Genes
34 %
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
34 %
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
34 %
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
34 %
Retinitis Pigmentosa via the PRPH2 (RDS) Gene.

By PreventionGenetics PreventionGenetics in United States.

PRPH2
Specificity
100 %
Genes
34 %
PRPH2-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

PRPH2
Specificity
100 %
Genes
34 %
Fundus albipunctatus.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
34 %
Macular dystrophy, vitelliform.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
34 %
Patterned dystrophy of retinal pigment epithelium.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
34 %
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
34 %
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
34 %
Choroidal dystrophy, central areolar type 2.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
34 %
Retinitis pigmentosa type 7, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

PRPH2
Specificity
100 %
Genes
34 %
Macular dystrophy.

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

PRPH2
Specificity
100 %
Genes
34 %
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
34 %
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
34 %
Single gene testing PRPH2.

By CeGaT GmbH in Germany.

PRPH2
Specificity
100 %
Genes
34 %
Vitelliform Macular Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

BEST1, PRPH2
Specificity
50 %
Genes
34 %
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
34 %
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
34 %
Retinitis pigmentosa 7.

By Praxis fuer Humangenetik Wien in Austria.

PRPH2
Specificity
100 %
Genes
34 %
PRPH2.

By Division Human Genetics Medical University Innsbruck in Austria.

PRPH2
Specificity
100 %
Genes
34 %
Retinitis pigmentosa 7.

By MedGene in Slovakia.

PRPH2
Specificity
100 %
Genes
34 %
Fundus albipunctatus: PRPH2 (RDS) gene sequence analysis.

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

PRPH2
Specificity
100 %
Genes
34 %
Macular dystrophy:PRPH2 (RDS) gene sequence analysis.

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

PRPH2
Specificity
100 %
Genes
34 %
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
34 %
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
34 %
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
34 %
Flecked-retina Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCA4, PRPH2, RLBP1, RHO, RDH5, PLA2G5
Specificity
17 %
Genes
34 %
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
34 %
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
34 %
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
34 %
PRPH2.

By Fulgent Genetics Fulgent Genetics in United States.

PRPH2
Specificity
100 %
Genes
34 %
Flecked Retina Disorders Panel.

By Blueprint Genetics in Finland.

CHM, ELOVL4, ABCA4, PRPH2, RLBP1, RHO, PROM1, RS1, CYP4V2, RDH5, VPS13B, PLA2G5
Specificity
9 %
Genes
34 %
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
34 %
Vitelliform macular dystrophy, adult-onset.

By Bioarray in Spain.

PRPH2
Specificity
100 %
Genes
34 %
FOVEOMACULAR VITELLIFORM DYSTROPHY.

By Laboratorio de Genetica Clinica SL in Spain.

BEST1, PRPH2
Specificity
50 %
Genes
34 %
RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

RP1, PRPH2, RHO, IMPDH1, PRPF31, PRPF3
Specificity
17 %
Genes
34 %
RETINITIS PUNCTATA ALBESCENS.

By Laboratorio de Genetica Clinica SL in Spain.

PRPH2, RLBP1, RHO, RDH5
Specificity
25 %
Genes
34 %
Patterned Macular Dystrophy Type 1 , Sequencing PRPH2 Gene.

By Reference Laboratory Genetics in Spain.

PRPH2
Specificity
100 %
Genes
34 %
Fundus Albipunctatus, Sequencing PRPH2 (RDS) Gene.

By Reference Laboratory Genetics in Spain.

PRPH2
Specificity
100 %
Genes
34 %
Vitelliform Macular Dystrophy, Deletions-Duplications (MLPA) BEST1,PRPH2 Genes.

By Reference Laboratory Genetics in Spain.

BEST1, PRPH2
Specificity
50 %
Genes
34 %
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
34 %
Stargardt Disease , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

ELOVL4, ABCA4, CNGB3, PRPH2, PROM1
Specificity
20 %
Genes
34 %
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
34 %
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
34 %
Fundus Albipunctatus, Panel Massive Sequencing (NGS) PRPH2, RDH5, RHO, RLBP1 Genes.

By Reference Laboratory Genetics in Spain.

PRPH2, RLBP1, RHO, RDH5
Specificity
25 %
Genes
34 %
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
34 %

Alternate names

Choroidal Dystrophy, Central Areolar, 1; Cacd1 Is also known as choroidal dystrophy, central areolar;cacd, choroidal sclerosis;areolar atrophy of the macula; cacd; central areolar choroidal sclerosis.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like UROFACIAL SYNDROME 2; UFS2 MITRAL VALVE PROLAPSE 2; MVP2 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more