Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks

Jin, Ki Won; Joo, Kwangsic; Woo, Se Joon

doi:10.3390/genes12081207

Cited by 3 publications

(1 citation statement)

References 35 publications

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“…A customized target enrichment kit (Celemics, Seoul, Republic of Korea) was designed to cover the exon and splicing regions of 254 IRD-associated genes [17,18]. The captured library was sequenced using an Illumina NextSeq550 instrument (Illumina, San Diego, CA, USA) to generate 2 × 150 bp reads.…”

Section: Genetic Analysesmentioning

confidence: 99%

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans

Kim

Joo

Han

et al. 2023

Genes

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This study aimed to investigate the clinical characteristics of Korean patients with retinal dystrophy associated with pathogenic variants of cone rod homeobox-containing gene (CRX). We retrospectively enrolled Korean patients with CRX-associated retinal dystrophy (CRX-RD) who visited two tertiary referral hospitals. Pathogenic variants were identified using targeted panel sequencing or whole-exome sequencing. We analyzed clinical features and phenotypic spectra according to genotype. Eleven patients with CRX-RD were included in this study. Six patients with cone-rod dystrophy (CORD), two with macular dystrophy (MD), two with Leber congenital amaurosis (LCA), and one with retinitis pigmentosa (RP) were included. One patient (9.1%) had autosomal recessive inheritance, and the other ten patients (90.9%) had autosomal dominant inheritance. Six patients (54.5%) were male, and the mean age of symptom onset was 27.0 ± 17.9 years. At the first presentation, the mean age was 39.4 ± 20.6 years, and best-corrected visual acuity (BCVA) (logMAR) was 0.76 ± 0.90 in the better eye. Negative electroretinography (ERG) was observed in seven (63.6%) patients. Nine pathogenic variants were identified, including two novel variants, c.101-1G>A and c.898T>C:p.(*300Glnext*118). Taken together with the variants reported in prior studies, all variants within the homeodomain are missense variants, whereas most variants downstream of the homeodomain are truncating variants (88%). The clinical features of pathogenic variants within the homeodomain are either CORD or MD with bull’s eye maculopathy, whereas variants downstream of the homeodomain cause more diverse phenotypes, with CORD and MD in 36%, LCA in 40%, and RP in 24%. This is the first case series in Korea to investigate the CRX-RD genotype–phenotype correlation. Pathogenic variants downstream of the homeodomain of the CRX gene are present as RP, LCA, and CORD, whereas pathogenic variants within the homeodomain are mainly present as CORD or MD with bull’s eye maculopathy. This trend was similar to previous genotype–phenotype analyses of CRX-RD. Further molecular biologic research on this correlation is required.

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Section: Genetic Analysesmentioning

confidence: 99%

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans

Kim

Joo

Han

et al. 2023

Genes

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Epidemiology of Angioid Streaks and Pseudoxanthoma Elasticum (2011–2020)

Wada

Miyake

Kido

et al. 2024

Ophthalmology Science

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Clinical and Genetic Features of Korean Patients with Achromatopsia

Choi

Joo

Lim

et al. 2023

Genes

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This multicenter study aimed to characterize Korean patients with achromatopsia. The patients’ genotypes and phenotypes were retrospectively evaluated. Twenty-one patients (with a mean age at the baseline of 10.9 years) were enrolled and followed up for a mean of 7.3 years. A targeted gene panel or exome sequencing was performed. The pathogenic variants of the four genes and their frequencies were identified. CNGA3 and PDE6C were equally the most prevalent genes: CNGA3 (N = 8, 38.1%), PDE6C (N = 8, 38.1%), CNGB3 (N = 3, 14.3%), and GNAT2 (N = 2, 9.5%). The degree of functional and structural defects varied among the patients. The patients’ age exhibited no significant correlation with structural defects. During the follow-up, the visual acuity and retinal thickness did not change significantly. In CNGA3-achromatopsia patients, a proportion of patients with a normal foveal ellipsoid zone on the OCT was significantly higher than that of patients with other causative genes (62.5% vs. 16.7%; p = 0.023). In PDE6C-achromatopsia patients, the same proportion was significantly lower than that of patients with other causative genes (0% vs. 58.3%; p = 0.003). Korean patients with achromatopsia showed similar clinical features but a higher prevalence of PDE6C variants than those of other ethnic groups. The retinal phenotypes of the PDE6C variants were more likely to be worse than those of other genes.

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Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks

Cited by 3 publications

References 35 publications

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans

Epidemiology of Angioid Streaks and Pseudoxanthoma Elasticum (2011–2020)

Clinical and Genetic Features of Korean Patients with Achromatopsia

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