Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the<i>EYS</i>Gene

Suto, Kimiko; Hosono, Katsuhiro; Takahashi, Masayo; Hirami, Yasuhiko; Arai, Yuki; Nagase, Yasunori; Ueno, Shinji; Terasaki, Hiroko; Minoshima, Shinsei; Kondo, Mineo; Hotta, Yoshihiro

doi:10.3109/13816810.2013.768673

Cited by 17 publications

(12 citation statements)

References 21 publications

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“…Altogether, these findings indicate that this Alu insertion is not only clearly pathogenic, but it is also a rather prevalent cause of retinal degeneration within the Japanese islands at the level of a single allele (1.8% of all HRD Japanese patients), possibly second only to the most frequent mutation so far identified in this country, i.e. NM_001142800.1:c.4957dup in EYS [24][25][26] .…”

Section: An Alu Insertion In Rp1 Is a Prevalent Cause Of Hrd In Japanmentioning

confidence: 75%

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Nikopoulos

Cisarova

Koskiniemi-Kuendig

et al. 2018

Preprint

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Section: An Alu Insertion In Rp1 Is a Prevalent Cause Of Hrd In Japanmentioning

confidence: 75%

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Nikopoulos

Cisarova

Koskiniemi-Kuendig

et al. 2018

Preprint

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“…Each separate variant homozygous, as well as the identical compound heterozygous combination of these variants, were previously identified as causal in RP patients. 9,[30][31][32] The third case was a French patient with compound heterozygous variants, p.(Trp558*) and p.(Asn745-Ser). The pathogenicity of the missense variant was questionable, as it proved to be not conserved, and the pathogenicity is uncertain according to the ACMG classification.…”

Section: Discussionmentioning

confidence: 99%

Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy

Pierrache

Messchaert

Thiadens

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. To assess the phenotypic variability and natural course of inherited retinal diseases (IRDs) caused by EYS mutations. METHODS. Multiethnic cohort study (N ¼ 30) with biallelic EYS variants from a clinical IRD database (retinitis pigmentosa [RP], N ¼ 27; cone-rod dystrophy [CRD], N ¼ 1; and macular dystrophy, N ¼ 2). In vitro minigene splice assay was performed to determine the effect on EYS pre-mRNA splicing of the c.1299þ5_1299þ8del variant in macular dystrophy patients. RESULTS. We found 27 different EYS variants in RP patients and 7 were novel. The rate of visual field loss of the V4e isopter area was À0.84 6 0.44 ln(deg 2) per year, and the rate of visual acuity loss was 0.75 Early Treatment Diabetic Retinopathy Study letters per year. Ellipsoid zone width was correlated with area of the hyperautofluorescent ring, with r s ¼ 0.78 and P < 0.001. Rate of decline in ellipsoid zone width was À57 6 17 lm per year (P < 0.01) (n ¼ 14) or À3.69% 6 0.51% from baseline per year (P < 0.001). An isolated CRD patient carried a homozygous EYS variant (c.9405T>A), previously identified in RP patients. Two siblings with macular dystrophy carried compound heterozygous EYS variants: c.1299þ5_1299þ8del and c.6050G>T. The former was novel and shown to result in skipping of exon 8, and the latter was a known RP variant. CONCLUSIONS. We report on EYS-associated macular dystrophy, extending the spectrum of EYSassociated IRDs. We observed heterogeneity between RP patients in age of onset and disease progression. Identical EYS variants were found in cases with RP, CRD, and macular dystrophy. Screening for EYS variants in CRD and macular dystrophy patients might increase the diagnostic yield in previously unsolved cases.

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“…However, age, logMAR visual acuity, and MD value were not statistically significant prognostic factors in the present study, although a previous study has reported that the extent of visual fields constriction seemed to correlate better with age than with visual acuity. 10 These findings help to explain the disease course to patients in clinical practice; that is, disease progression of RP patients with EYS mutations with relatively longer ISe should be slow, whereas that of the patients with relatively shorter ISe should be rapid. However, we cannot predict the degree of disease progression from age, visual acuity, and visual field.…”

Section: Discussionmentioning

confidence: 99%

“…[5][6][7][8][9] Furthermore, a report has described that EYS-associated RP patients share a relatively uniform phenotype with near-normal central visual function up to their 20s. 10 We have previously reported that severity of RP patients with EYS mutations was relatively moderate among RP patients with various mutations. 11 Thus, we encounter RP patients with EYS mutations at relatively high frequency in daily clinical consultation except detection for causative gene mutations, and RP patients with EYS mutations have a representative feature in RP.…”

Section: Introductionmentioning

confidence: 99%

Inner segment ellipsoid band length is a prognostic factor in retinitis pigmentosa associated with EYS mutations: 5-year observation of retinal structure

Miyata

Ogino

Gotoh

et al. 2016

Eye

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Purpose To evaluate whether the length of the inner segment ellipsoid (ISe) band can be used as a prognostic factor for disease course in retinitis pigmentosa (RP) patients with EYS mutations by observation over a period of 5 years. Methods Twelve RP patients with EYS mutations were studied. The horizontal and vertical ISe length of the right eye was manually measured at five time points annually, using spectral domain optical coherence tomography. A regression line through the five points from baseline to the final measurement was drawn and the ratio of the length (%) at each point to the baseline length was calculated; the slope was defined as the rate of ISe shortening (%/year). The correlation between the rate of ISe shortening and age, visual acuity, and mean deviation (MD) value were evaluated. The intraclass correlation coefficient (ICC) for the measurements was calculated. Results The mean rate of ISe shortening was − 4.65 ± 2.89% per year and the decline was statistically significant. The rate of shortening was significantly negatively correlated with the baseline length (P = 0.046, r = 0.58), but not with the baseline age, visual acuity, and MD value. The ICC (2, 1) was 0.999. Conclusions ISe of all RP patients with EYS mutations shortened during the 5 years of annual observation. The measurement of the length of ISe is a simple and convenient method with high repeatability, and the length is a sensitive prognostic factor for the rate of ISe shortening in RP patients with EYS mutations.

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Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in theEYSGene

Cited by 17 publications

References 21 publications

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy

Inner segment ellipsoid band length is a prognostic factor in retinitis pigmentosa associated with EYS mutations: 5-year observation of retinal structure

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