{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T22:56:04Z","timestamp":1777503364479,"version":"3.51.4"},"reference-count":38,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2020,2,16]],"date-time":"2020-02-16T00:00:00Z","timestamp":1581811200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>DRAM2-associated retinopathy is a rare inherited retinal dystrophy, and its outcome has not been determined. A single retinal involvement by a mutation of the DRAM2 gene is unexplained. We found three unrelated patients with a disease-causing DRAM2 variant in a biallelic state from 1555 Japanese individuals of 1314 families with inherited retinal dystrophy. We reviewed their medical records and examined their peripheral lymphocytes by transmission electron microscopy (TEM). Patient 1 was a 38-year-old woman who complained of night blindness and reduced vision. She developed macular degeneration at age 43 years. Patients 2 and 3 were a man and a woman both of whom noticed night blindness in their 30s. Both had a degeneration in the macula and midperiphery in their 40s, which progressed to a diffuse retinal degeneration in their 60s when their vision was reduced to hand motions. Three novel DRAM2 variants were identified. TEM of the lymphocytes of Patients 1 and 2 showed abnormal structures in 40.6% and 0.3% of the peripheral lymphocytes, respectively. We concluded that the DRAM2-associated retinopathy of our patients was a progressive rod-cone dystrophy, and the visual outcome was poor. The systemic effect of DRAM2 mutations may be compensable and have variations.<\/jats:p>","DOI":"10.3390\/ijms21041331","type":"journal-article","created":{"date-parts":[[2020,2,19]],"date-time":"2020-02-19T04:06:01Z","timestamp":1582085161000},"page":"1331","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy"],"prefix":"10.3390","volume":"21","author":[{"given":"Kazuki","family":"Kuniyoshi","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka 589-8511, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1535-0279","authenticated-orcid":false,"given":"Takaaki","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan"},{"name":"Department of Ophthalmology, Katsushika Medical Center, The Jikei University School of Medicine, Tokyo 125-8506, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuhei","family":"Kameya","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Chiba 270-1694, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7787-8194","authenticated-orcid":false,"given":"Satoshi","family":"Katagiri","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kei","family":"Mizobuchi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiaki","family":"Tachibana","sequence":"additional","affiliation":[{"name":"Core Research Facilities for Basic Science, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo 105-8461, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daiki","family":"Kubota","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Chiba 270-1694, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Sakuramoto","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka 589-8511, Japan"},{"name":"Sakuramoto Eye Clinic, Osaka 586-0001, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazushige","family":"Tsunoda","sequence":"additional","affiliation":[{"name":"Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo 152-8902, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaoru","family":"Fujinami","sequence":"additional","affiliation":[{"name":"Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo 152-8902, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8247-9443","authenticated-orcid":false,"given":"Kazutoshi","family":"Yoshitake","sequence":"additional","affiliation":[{"name":"Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo 152-8902, Japan"},{"name":"Graduate School of Agricultural and Life Sciences, Faculty of Agriculture, The University of Tokyo, Tokyo 113-8657, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Iwata","sequence":"additional","affiliation":[{"name":"Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo 152-8902, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Nakano","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shunji","family":"Kusaka","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka 589-8511, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,2,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2260","DOI":"10.4161\/cc.8.14.9050","article-title":"Analysis of DRAM-related proteins reveals evolutionarily conserved and divergent roles in the control of autophagy","volume":"8","author":"Skommer","year":"2009","journal-title":"Cell Cycle"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1007\/s11033-011-0835-x","article-title":"The expression of damage-regulated autophagy modulator 2 (DRAM2) contributes to autophagy induction","volume":"39","author":"Yoon","year":"2012","journal-title":"Mol. 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