Development of a Molecular Diagnostic Test for Retinitis Pigmentosa in the Japanese Population

Overview

Journal Jpn J Ophthalmol

Specialty Ophthalmology

Date 2018 May 23

PMID 29785639

Citations 24

Authors

Akiko Maeda

Akiko Yoshida

Kanako Kawai

Yuki Arai

Ryutaro Akiba

Akira Inaba

Seiji Takagi

Ryoji Fujiki

Yasuhiko Hirami

Yasuo Kurimoto

Osamu Ohara

Masayo Takahashi

Affiliations

Soon will be listed here.

Abstract

Purpose: Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy caused by different genetic variants. More than 60 causative genes have been identified to date. The establishment of cost-effective molecular diagnostic tests with high sensitivity and specificity can be beneficial for patients and clinicians. Here, we developed a clinical diagnostic test for RP in the Japanese population.

Study Design: Evaluation of diagnostic technology, Prospective, Clinical and experimental study.

Methods: A panel of 39 genes reported to cause RP in Japanese patients was established. Next generation sequence (NGS) technology was applied for the analyses of 94 probands with RP and RP-related diseases. After interpretation of detected genetic variants, molecular diagnosis based on a study of the genetic variants and a clinical phenotype was made by a multidisciplinary team including clinicians, researchers and genetic counselors.

Results: NGS analyses found 14,343 variants from 94 probands. Among them, 189 variants in 83 probands (88.3% of all cases) were selected as pathogenic variants and 64 probands (68.1%) have variants which can cause diseases. After the deliberation of these 64 cases, molecular diagnosis was made in 43 probands (45.7%). The final molecular diagnostic rate with the current system combining supplemental Sanger sequencing was 47.9% (45 of 94 cases).

Conclusions: The RP panel provides the significant advantage of detecting genetic variants with a high molecular diagnostic rate. This type of race-specific high-throughput genotyping allows us to conduct a cost-effective and clinically useful genetic diagnostic test.

Citing Articles

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PMID: 38870140 PMC: 11175448. DOI: 10.1371/journal.pone.0305422.

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