Article
Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy.
International journal of molecular sciences - 16 Feb 2020
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
Abstract excerpt
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...
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