Evidence map›Paper›PMID 42828610›Full record

ArticleJapanese journal of ophthalmology2026

Assessing awareness toward genetic testing among patients with inherited retinal dystrophy in Japan.

Go Mawatari, Taiji Sakamoto, Koji M Nishiguchi, Masato Akiyama, Akio Oishi, Kaoru Fujinami, Akiko Maeda, Michikazu Nakai, Yasuhiro Ikeda

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Article in Japanese journal of ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Go MawatariDepartment of Ophthalmology, Faculty of Medicine, University of Miyazaki, 5200 Kihara, Kiyotake, Miyazaki, 889-1692, Japan.
Taiji SakamotoDepartment of Ophthalmology, Kagoshima University, Kagoshima, Japan.
Koji M NishiguchiDepartment of Ophthalmology, Nagoya University Graduate School of Medicine, Aichi, Japan.
Masato AkiyamaDepartment of Ocular Pathology and Imaging Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Akio OishiDepartment of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.
Kaoru FujinamiLaboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Akiko MaedaKobe City Eye Hospital, Hyogo, Japan.
Michikazu NakaiDepartment of Statistics and Data Management, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Yasuhiro IkedaDepartment of Ophthalmology, Faculty of Medicine, University of Miyazaki, 5200 Kihara, Kiyotake, Miyazaki, 889-1692, Japan. ymocl@med.miyazaki-u.ac.jp.

Funding

Japan Agency for Medical Research and Development 23ek0109632
6 · The paper itself

Abstract

purposeTo conduct a nationwide questionnaire survey among patients with inherited retinal dystrophy (IRD) with the aim of investigating the percentage of patients requesting or not requesting genetic testing and clarifying the reasons underlying these preferences. STUDY

designA questionnaire-based cross-sectional study.

methodsThis study conducted a questionnaire survey targeting IRD patients aged 18 years or older. Participants were recruited from members of the Japanese Retinitis Pigmentosa Society, a patient advocacy organization for individuals with retinitis pigmentosa and other IRDs, and collaborating research institutions. The study announcement was also posted on the website of the Department of Ophthalmology, Faculty of Medicine, University of Miyazaki. Responses were collected in print, e-mail, and online formats between October 1, 2023 and March 31, 2025. The resulting data were statistically analyzed using simple tabulation and a logistic regression analysis.

resultsA total of 153 valid responses were obtained. The survey revealed that 86.3% of IRD patients requested genetic testing and the main reasons were personal motivation, such as: To identify the cause of the disease (84.8%), followed by: To obtain information for my future treatment, and :To obtain information regarding my future prognosis (both 81.8%). Conversely, the most common reason for not requesting the test was Genetic testing is pointless because there is no treatment (52.4%). Genetic testing was more likely to be requested by participants with greater knowledge of related terms. Among the 49 participants who had previously participated in gene analysis research, the explanation for the most frequent reason for satisfaction with the result was: The implications for children, grandchildren, and family members were clarified (73.7%), while the most frequent reason for dissatisfaction was: The diagnosis was not finalized (60.0%).

conclusionThe present results indicate that the majority of patients possess a high level of interest and a positive attitude toward genetic testing. It is crucial to properly convey the significance of genetic testing and related information to patients, which will enable more patients to approach genetic testing positively and achieve a high level of satisfaction.

Indexed as

Awareness surveyGenetic analysisGenetic testingInherited retinal dystrophyQuestionnaire

Identifiers

PMID42828610

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.