rs1553192726 in ABCA4 gene and Retinitis Pigmentosa

PMID 25312043 2015 Clinical and molecular characteristics of childhood-onset Stargardt disease.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 11527935 2001 Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

PMID 11594993 2001 Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).

PMID 9781034 1998 Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

PMID 9973280 1999 Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

PMID 20554613 2010 Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

rs771054395 in ARL6 gene and Retinitis Pigmentosa

PMID 23219996 2013 Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.

rs376894444 in BBS1 gene and Retinitis Pigmentosa

PMID 15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

rs549625604 in BBS10 gene and Retinitis Pigmentosa

PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

rs752762669 in BBS12 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs113624356 in BBS1;ZDHHC24 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 12118255 2002 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

rs121908175 in BBS2 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs104894559 in CA4 gene and Retinitis Pigmentosa

PMID 15090652 2004 Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

PMID 15563508 2005 Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.

rs181255269 in CDH23 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs397517328 in CDH23;CDH23-AS1 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs794727197 in CDHR1 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs137852832 in CEP290 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs121909398 in CERKL gene and Retinitis Pigmentosa

PMID 21151602 2010 Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

PMID 24043777 2013 Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 25999674 2015 The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

PMID 14681825 2004 Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

PMID 22164218 2011 Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

rs886041178 in CHM gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs139842473 in CLN3 gene and Retinitis Pigmentosa

PMID 24154662 2014 Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

rs111033258 in CLRN1-AS1;CLRN1 gene and Retinitis Pigmentosa

PMID 12080385 2002 USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

rs111033267 in CLRN1;CLRN1-AS1 gene and Retinitis Pigmentosa

PMID 12080385 2002 USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

rs62625014 in CNGA1;NIPAL1;LOC101927157 gene and Retinitis Pigmentosa

PMID 7479749 1995 Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 28981474 2017 The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

rs189234741 in CNGB1 gene and Retinitis Pigmentosa

PMID 25999674 2015 The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

PMID 21987686 2011 Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.

PMID 25943428 2015 Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 28056120 2017 Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.

PMID 21147909 2011 Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.

rs397515360 in CNGB3 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs115352681 in CRB1 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

rs61748436 in CRX gene and Retinitis Pigmentosa

PMID 9427255 1997 Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

PMID 9792858 1998 A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

PMID 11139241 2001 Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

rs745413794 in CYP4V2;FLJ38576 gene and Retinitis Pigmentosa

PMID 24480711 2014 Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

rs147394623 in DHDDS gene and Retinitis Pigmentosa

PMID 21295282 2011 Clinical manifestations of patients who are homozygous for the c.124A>G mutation were within the spectrum associated with arRP.

PMID 24078709 2013 We observed a characteristic shortening of plasma and urinary dolichols in retinitis pigmentosa (RP) patients carrying K42E and T206A mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene, using liquid chromatography-mass spectrometry.

PMID 26261414 2015 Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

PMID 29276052 2018 Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.

PMID 21295283 2011 Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.

PMID 25255364 2015 We screened 275 North American patients with recessive/isolate retinitis pigmentosa for two mutations: an Alu insertion in the MAK gene and the p.Lys42Glu missense in the DHDDS gene.

rs181169439 in EYS gene and Retinitis Pigmentosa

PMID 22164218 2011 Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 20537394 2010 Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.

PMID 25268133 2014 Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.

PMID 21069908 2010 Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

PMID 18976725 2008 Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

PMID 25491159 2015 Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.

PMID 22581970 2012 A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

rs373203896 in EYS;PHF3 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 29550188 2018 A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.

rs200691042 in FAM161A gene and Retinitis Pigmentosa

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 20705278 2010 Another homozygous FAM161A stop mutation (p.Arg437X) was detected in three subjects from a cohort of 118 apparently unrelated German RP patients.

PMID 26113502 2015 Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.

PMID 26574802 2015 Subsequent ARMS analysis and Sanger sequencing in Dutch and Belgian arRP patients resulted in the identification of seven additional individuals carrying the p.(Arg437*) mutation, either homozygously or compound heterozygously with another mutation.

PMID 25999674 2015 The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

rs104894475 in GPHN;RDH12 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs104893967 in GUCA1A gene and Retinitis Pigmentosa

PMID 9425234 1998 A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.

rs779007169 in IFT140 gene and Retinitis Pigmentosa

PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

rs140630401 in IQCB1 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs567961453 in LOC101927157;CNGA1;NIPAL1 gene and Retinitis Pigmentosa

PMID 25611614 2015 Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.

rs199584830 in LOC101927157;NIPAL1;CNGA1 gene and Retinitis Pigmentosa

PMID 26306921 2015 Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

rs746551311 in LOC105372918;USH2A gene and Retinitis Pigmentosa

PMID 15325563 2004 Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

rs267606676 in LOC107984334;BEST1 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs541717028 in MERTK gene and Retinitis Pigmentosa

PMID 15111602 2004 MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.

PMID 24625443 2014 Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

rs35689081 in MYO7A gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs121912631 in NR2E3 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs863223343 in PANK2 gene and Retinitis Pigmentosa

PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

rs367658438 in PCARE gene and Retinitis Pigmentosa

PMID 21412943 2011 Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

rs139444207 in PDE6A gene and Retinitis Pigmentosa

PMID 21151602 2010 Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

PMID 10393062 1999 Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.

PMID 25775262 2015 Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

PMID 23134348 2013 Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs146591309 in PDE6A;MFFP2 gene and Retinitis Pigmentosa

PMID 17110911 2006 Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.

rs1553812554 in PDE6B gene and Retinitis Pigmentosa

PMID 20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.

PMID 25823529 2015 Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 22334370 2012 Next-generation genetic testing for retinitis pigmentosa.

PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

PMID 7724547 1995 Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

rs370898371 in PDE6B-AS1;PDE6B gene and Retinitis Pigmentosa

PMID 22334370 2012 Next-generation genetic testing for retinitis pigmentosa.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs121918579 in PDE6B;PDE6B-AS1 gene and Retinitis Pigmentosa

PMID 8394174 1993 Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

rs1326370032 in PHF3;EYS gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs104894178 in PHYH gene and Retinitis Pigmentosa

PMID 9326939 1997 Identification of PAHX, a Refsum disease gene.

PMID 14974078 2004 Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).

rs137853005 in PROM1 gene and Retinitis Pigmentosa

PMID 17605048 2007 Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.

rs61755793 in PRPH2 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 8449524 1993 Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.

rs200826424 in RCBTB1 gene and Retinitis Pigmentosa

PMID 27486781 2016 Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

rs104894474 in RDH12;GPHN gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs104893769 in RHO gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 8401533 1993 Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

PMID 11139241 2001 Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

PMID 1301135 1992 A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.

PMID 2215617 1990 Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

PMID 1833777 1991 Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

rs752997229 in RILP;PRPF8 gene and Retinitis Pigmentosa

PMID 11468273 2001 Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

rs137853291 in RLBP1 gene and Retinitis Pigmentosa

PMID 10102299 1999 Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.

rs1449723475 in RP1 gene and Retinitis Pigmentosa

PMID 11095597 2000 RP1 protein truncating mutations predominate at the RP1 adRP locus.

PMID 16597330 2006 Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

PMID 10484783 1999 Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

PMID 10391211 1999 Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.

rs104894927 in RP2 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs368088025 in RPE65 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1555961832 in RPGR gene and Retinitis Pigmentosa

PMID 11992260 2002 A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

PMID 10932196 2000 Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1555558169 in SCAPER gene and Retinitis Pigmentosa

PMID 28794130 2017 Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

rs267607077 in SNRNP200 gene and Retinitis Pigmentosa

PMID 19878916 2009 The c.3260C>T substitution showed complete cosegregation with the retinitis pigmentosa (RP) phenotype over four generations, but was absent in a panel of 400 controls.

rs1554671407 in TOPORS gene and Retinitis Pigmentosa

PMID 18509552 2008 Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 17924349 2007 Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

rs397515359 in USH1C gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1003869920 in USH2A gene and Retinitis Pigmentosa

PMID 21593743 2011 Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 15015129 2004 Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

PMID 20507924 2010 Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

PMID 21151602 2010 Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 11311042 2001 Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

PMID 19881469 2009 Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

PMID 10729113 2000 Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

PMID 25133613 2014 Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.

PMID 23940504 2013 Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

PMID 18273898 2008 Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

PMID 10909849 2000 Identification of novel USH2A mutations: implications for the structure of USH2A protein.

PMID 10775529 2000 Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss.

PMID 9624053 1998 Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

rs754768875 in USH2A;LOC102723833 gene and Retinitis Pigmentosa

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.