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Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy
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 ind...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072995/ https://www.ncbi.nlm.nih.gov/pubmed/32079136 http://dx.doi.org/10.3390/ijms21041331 |
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author | Kuniyoshi, Kazuki Hayashi, Takaaki Kameya, Shuhei Katagiri, Satoshi Mizobuchi, Kei Tachibana, Toshiaki Kubota, Daiki Sakuramoto, Hiroyuki Tsunoda, Kazushige Fujinami, Kaoru Yoshitake, Kazutoshi Iwata, Takeshi Nakano, Tadashi Kusaka, Shunji |
author_facet | Kuniyoshi, Kazuki Hayashi, Takaaki Kameya, Shuhei Katagiri, Satoshi Mizobuchi, Kei Tachibana, Toshiaki Kubota, Daiki Sakuramoto, Hiroyuki Tsunoda, Kazushige Fujinami, Kaoru Yoshitake, Kazutoshi Iwata, Takeshi Nakano, Tadashi Kusaka, Shunji |
author_sort | Kuniyoshi, Kazuki |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7072995 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-70729952020-03-19 Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy Kuniyoshi, Kazuki Hayashi, Takaaki Kameya, Shuhei Katagiri, Satoshi Mizobuchi, Kei Tachibana, Toshiaki Kubota, Daiki Sakuramoto, Hiroyuki Tsunoda, Kazushige Fujinami, Kaoru Yoshitake, Kazutoshi Iwata, Takeshi Nakano, Tadashi Kusaka, Shunji Int J Mol Sci Article 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. MDPI 2020-02-16 /pmc/articles/PMC7072995/ /pubmed/32079136 http://dx.doi.org/10.3390/ijms21041331 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Kuniyoshi, Kazuki Hayashi, Takaaki Kameya, Shuhei Katagiri, Satoshi Mizobuchi, Kei Tachibana, Toshiaki Kubota, Daiki Sakuramoto, Hiroyuki Tsunoda, Kazushige Fujinami, Kaoru Yoshitake, Kazutoshi Iwata, Takeshi Nakano, Tadashi Kusaka, Shunji Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy |
title | Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy |
title_full | Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy |
title_fullStr | Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy |
title_full_unstemmed | Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy |
title_short | Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy |
title_sort | clinical course and electron microscopic findings in lymphocytes of patients with dram2-associated retinopathy |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072995/ https://www.ncbi.nlm.nih.gov/pubmed/32079136 http://dx.doi.org/10.3390/ijms21041331 |
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