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Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy

Authors :
Kazuki Kuniyoshi
Takaaki Hayashi
Shuhei Kameya
Satoshi Katagiri
Kei Mizobuchi
Toshiaki Tachibana
Daiki Kubota
Hiroyuki Sakuramoto
Kazushige Tsunoda
Kaoru Fujinami
Kazutoshi Yoshitake
Takeshi Iwata
Tadashi Nakano
Shunji Kusaka
Source :
International Journal of Molecular Sciences, Vol 21, Iss 4, p 1331 (2020)
Publication Year :
2020
Publisher :
MDPI AG, 2020.

Abstract

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.

Details

Language :
English
ISSN :
14220067
Volume :
21
Issue :
4
Database :
Directory of Open Access Journals
Journal :
International Journal of Molecular Sciences
Publication Type :
Academic Journal
Accession number :
edsdoj.91336f1ede5844efbc67f4978ed2cbe9
Document Type :
article
Full Text :
https://doi.org/10.3390/ijms21041331