Autosomal Dominant Cone-Rod Dystrophy Associated With a Val200glu Mutation of the Peripherin/RDS Gene

Nakazawa, Makoto; Nao‐i, Nobuhisa; Wada, Yuko; Nakazaki, Shuji; Maruiwa, Futoshi; Sawada, Atsushi; Tamai, Makoto

doi:10.1097/00006982-199616050-00007

Cited by 35 publications

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“…The age of onset, degree of cone/rod dysfunction, and funduscopic appearance are diverse, partly because there are many genetic causes related to this disorder. Representative genotypes related to this disorder involve GUCY2D, 1-4 GUCA1A, 5-8 CRX, 9,10 RIMS1, 11 PROM1, 12,13 and PRPH2 14,15 as autosomal dominant; AB-CA4 [16][17][18][19] and KCNV2 [20][21][22] as autosomal recessive; and RPGR 23,24 as X-linked recessive. It is notable that the clinical features of cone/cone-rod dystrophy are also diverse among the patients having mutations in the same gene or even among patients in the same family.…”

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confidence: 99%

Phenotypical Characteristics ofPOC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Kameya

Fujinami

Ueno

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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Citation: Kameya S, Fujinami K, Ueno S, et al. Phenotypical characteristics of POC1B-associated retinopathy in Japanese cohort: cone dystrophy with normal funduscopic appearance. Invest Ophthalmol Vis Sci. 2019;60:3432-3446. https://doi.org/ 10.1167/iovs.19-26650 PURPOSE. Cone/cone-rod dystrophy is a large group of retinal disorders with both phonotypic and genetic heterogeneity. The purpose of this study was to characterize the phenotype of eight patients from seven families harboring POC1B mutations in a cohort of the Japan Eye Genetics Consortium (JEGC). METHODS.Whole-exome sequencing with targeted analyses identified homozygous or compound heterozygous mutations of the POC1B gene in 7 of 548 families in the JEGC database. Ophthalmologic examinations including the best-corrected visual acuity, perimetry, fundus photography, fundus autofluorescence imaging, optical coherence tomography, and full-field and multifocal electroretinography (ERGs) were performed.RESULTS. There were four men and four women whose median age at the onset of symptoms was 15.6 years (range, 6-23 years) and that at the time of examination was 40.3 years (range, 22-67 years). The best-corrected visual acuity ranged from À0.08 to 1.52 logMAR units. The funduscopic appearance was normal in all the cases except in one case with faint mottling in the fovea. Optical coherence tomography revealed an absence of the interdigitation zone and blurred ellipsoid zone in the posterior pole, but the foveal structures were preserved in three cases. The full-field photopic ERGs were reduced or extinguished with normal scotopic responses. The central responses of the multifocal ERGs were preserved in two cases. The diagnosis was either generalized cone dystrophy in five cases or cone dystrophy with foveal sparing in three cases.CONCLUSIONS. Generalized or peripheral cone dystrophy with normal funduscopic appearance is the representative phenotype of POC1B-associated retinopathy in our cohort.Whole-exome sequencing and targeted sequence analyses of the 301 retinal disease-associated genes (including genes of Retnet; https://sph.uth.edu/retnet/, in the public domain) were done according to the published protocol of the NISO. 35 Paired-end sequence library construction and exome capturing Downloaded from iovs.arvojournals.org on 07/08/2020 FIGURE 8. Horizontal and vertical OCT images of the left eye of patient 1 recorded at the age 35 years (A) and 39 years (B).Longitudinal reflectivity profiles at the fovea are shown below the OCT images. EZ and IZ are preserved in the fovea at the age 35 years but they are blurred at the age of 39 years. The reflectivity profiles show small peaks of IZ at the age 35 years but not at 39 years. The reflectance intensity of the IZ relative to the RPE was 0.82 at the age 35 years and 0.63 at the age 39 years. The reflectance intensity of the EZ relative to the RPE was 0.86 at the age 35 years and 0.77 at the age 39 years. The reflectivity was averaged in width as indicated by the yellow lines. ILM, internal limiting membra...

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Phenotypical Characteristics ofPOC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Kameya

Fujinami

Ueno

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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“…Microsatellite markers for the 21 adRP genes http://www.sph.uth.tmc.edu/Retnet, the 3 most frequent adCRD genes ( CRX , GUCY2D and PRPH2/RDS ) [7-10] and a fourth adCRD gene, GUCA1A , were used to genotype family members, and to search for co-segregation of the markers with the disease phenotype. All these candidate genes were excluded.…”

Section: Resultsmentioning

confidence: 99%

“…In contrast, the overall prevalence of adCRD genes remains low, many of them being described in only one or a few cases. Only CRX , GUCY2D and PRPH2/RDS have been consistently reported in adCRD [7-10]. Yet, CRX was estimated to account for only 5-10% of adCRD cases and the prevalence of GUCY2D and PRPH2/RDS is unknown [11,12].…”

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confidence: 99%

A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

et al. 2011

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BackgroundRod-cone dystrophy, also known as retinitis pigmentosa (RP), and cone-rod dystrophy (CRD) are degenerative retinal dystrophies leading to blindness. To identify new genes responsible for these diseases, we have studied one large non consanguineous French family with autosomal dominant (ad) CRD.MethodsFamily members underwent detailed ophthalmological examination. Linkage analysis using microsatellite markers and a whole-genome SNP analysis with the use of Affymetrix 250 K SNP chips were performed. Five candidate genes within the candidate region were screened for mutations by direct sequencing.ResultsWe first excluded the involvement of known adRP and adCRD genes in the family by genotyping and linkage analysis. Then, we undertook a whole-genome scan on 22 individuals in the family. The analysis revealed a 41.3-Mb locus on position 2q24.2-2q33.1. This locus was confirmed by linkage analysis with specific markers of this region. The maximum LOD score was 2.86 at θ = 0 for this locus. Five candidate genes, CERKL, BBS5, KLHL23, NEUROD1, and SF3B1 within this locus, were not mutated.ConclusionA novel locus for adCRD, named CORD12, has been mapped to chromosome 2q24.2-2q33.1 in a non consanguineous French family.

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“…Cone dystrophy comprises a large and heterogeneous group of disorders [4, 17, 29, 39, 44, 52, 56, 61, 78, 116, 117, 141, 204, 207, 217, 218] and is a cause for central 10-degree VF defects and PCS [17, 78, 185]. Impairment of driving abilities has been shown in 2 US studies [196, 197] which was consistent with the results of an independent US survey [131].…”

Section: Disorders With Pcsmentioning

confidence: 99%

Central and Paracentral Visual Field Defects and Driving Abilities

Petzold¹,

Plant²

2005

Ophthalmologica

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Autosomal Dominant Cone-Rod Dystrophy Associated With a Val200glu Mutation of the Peripherin/RDS Gene

Cited by 35 publications

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Phenotypical Characteristics ofPOC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Phenotypical Characteristics ofPOC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

Central and Paracentral Visual Field Defects and Driving Abilities

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