Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
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
_version_ 1783506536002224128
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
work_keys_str_mv AT kuniyoshikazuki clinicalcourseandelectronmicroscopicfindingsinlymphocytesofpatientswithdram2associatedretinopathy
AT hayashitakaaki clinicalcourseandelectronmicroscopicfindingsinlymphocytesofpatientswithdram2associatedretinopathy
AT kameyashuhei clinicalcourseandelectronmicroscopicfindingsinlymphocytesofpatientswithdram2associatedretinopathy
AT katagirisatoshi clinicalcourseandelectronmicroscopicfindingsinlymphocytesofpatientswithdram2associatedretinopathy
AT mizobuchikei clinicalcourseandelectronmicroscopicfindingsinlymphocytesofpatientswithdram2associatedretinopathy
AT tachibanatoshiaki clinicalcourseandelectronmicroscopicfindingsinlymphocytesofpatientswithdram2associatedretinopathy
AT kubotadaiki clinicalcourseandelectronmicroscopicfindingsinlymphocytesofpatientswithdram2associatedretinopathy
AT sakuramotohiroyuki clinicalcourseandelectronmicroscopicfindingsinlymphocytesofpatientswithdram2associatedretinopathy
AT tsunodakazushige clinicalcourseandelectronmicroscopicfindingsinlymphocytesofpatientswithdram2associatedretinopathy
AT fujinamikaoru clinicalcourseandelectronmicroscopicfindingsinlymphocytesofpatientswithdram2associatedretinopathy
AT yoshitakekazutoshi clinicalcourseandelectronmicroscopicfindingsinlymphocytesofpatientswithdram2associatedretinopathy
AT iwatatakeshi clinicalcourseandelectronmicroscopicfindingsinlymphocytesofpatientswithdram2associatedretinopathy
AT nakanotadashi clinicalcourseandelectronmicroscopicfindingsinlymphocytesofpatientswithdram2associatedretinopathy
AT kusakashunji clinicalcourseandelectronmicroscopicfindingsinlymphocytesofpatientswithdram2associatedretinopathy