Dataset Information

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.

ABSTRACT: Purpose:To report genetic and clinical features of two unrelated Japanese patients with early onset flecked retinal dystrophy. Methods:Patients underwent comprehensive ophthalmic examinations that included electroretinography (ERG) after 30 min and 24 h of dark adaptation (DA). Disease-causing gene variants were identified with whole exome sequencing (WES), with identified candidates confirmed with direct sequencing. Results:WES identified compound heterozygous RPE65 variants in both patients. Variants in patient 1 included c.1543C>T (p.R515W) and c.683A>C (p.Q228P), while patient 2 exhibited c.1028T>A (p.L343*) and c.683A>C (p.Q228P). Although variants p.R515W and p.L343* have been previously reported as pathogenic, variant p.Q228P was reported as uncertain significance. Each unaffected parent carried the variant heterozygously. Both patients had similar ophthalmic findings, including decreased visual acuity with early onset night blindness, numerous dense white dots/flecks occurring mainly outside the vascular arcades, a diffuse and/or disrupted ellipsoid line as shown with optical coherence tomography, and non-recordable rod and combined responses along with decreased cone responses after 30 min of DA. After 24 h of DA, both patients exhibited marked or partial recovery of the combined responses. Conclusions:The results indicate that the recovery of combined or residual cone responses might be associated with a mild form of RPE65-related early onset flecked retinal dystrophy with new compound heterozygous variants.

SUBMITTER: Katagiri S

PROVIDER: S-EPMC5893010 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Early onset flecked retinal dystrophy associated with new compound heterozygous <i>RPE65</i> variants.

Katagiri Satoshi S Hosono Katsuhiro K Hayashi Takaaki T Kurata Kentaro K Mizobuchi Kei K Matsuura Tomokazu T Yoshitake Kazutoshi K Iwata Takeshi T Nakano Tadashi T Hotta Yoshihiro Y

Molecular vision 20180409

<h4>Purpose</h4>To report genetic and clinical features of two unrelated Japanese patients with early onset flecked retinal dystrophy.<h4>Methods</h4>Patients underwent comprehensive ophthalmic examinations that included electroretinography (ERG) after 30 min and 24 h of dark adaptation (DA). Disease-causing gene variants were identified with whole exome sequencing (WES), with identified candidates confirmed with direct sequencing.<h4>Results</h4>WES identified compound heterozygous <i>RPE65</i> ...[more]

PMID: 29681726

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Project description:Purpose:To validate a vision-guided mobility assessment for individuals affected by RPE65-associated retinal dystrophy (RPE65-RD). Methods:In this comparative cross-sectional study, 29 subjects, comprising 19 subjects with RPE65-RD and 10 normally-sighted subjects undertook three assessments of mobility: following a straight line, navigating a simple maze, and stepping over a sidewalk "kerb." Performance was quantified as the time taken to complete each assessment, number of errors made, walking speed, and percent preferred walking speed, for each assessment. Subjects also undertook assessments of visual acuity, contrast sensitivity, full-field static perimetry, and age-appropriate quality of life questionnaires. To identify the most relevant metric to quantify vision-guided mobility, we investigated repeatability, as well as convergent, discriminant, and criterion validity. We also measured the effect of illumination on mobility. Results:Walking speed through the maze assessment best discriminated between RPE65-RD and normally-sighted subjects, with both convergent and discriminant validity. Walking speed also approached statistical significance when assessed for criterion validity (P = 0.052). Subjects with RPE65-RD had quantifiably poorer mobility at lower illumination levels. A relatively small mean difference (-0.09 m/s) was identified in comparison to a relatively large repeatability coefficient (1.10 m/s). Conclusions:We describe a novel, quantifiable, repeatable, and valid assessment of mobility designed specifically for subjects with RPE65-RD. The assessment is sensitive to the visual impairment of individuals with RPE65-RD in low illumination, identifies the known phenotypic heterogeneity and will furthermore provide an important outcome measure for RPE65-RD. Translational Relevance:This assessment of vision-guided mobility, validated in a dedicated cohort of subjects with RPE65-RD, is a relevant and quantifiable outcome measure for RPE65-RD.

Dataset Information

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.

Publications

Early onset flecked retinal dystrophy associated with new compound heterozygous <i>RPE65</i> variants.

Similar Datasets

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