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Impairment of visual functions
Published in Ramar Sabapathi Vinayagam, Integrated Evaluation of Disability, 2019
Retinitis pigmentosa, vitamin A deficiency, glaucoma, X-linked congenital stationary night blindness, gyrate atrophy, Laurence-Moon syndrome, Oguchi disease, optic atrophy, peripheral chorioretinitis, siderosis retinae, cancer-associated retinopathy or hypoxia, and uncorrected myopia causes night blindness (nyctalopia). If night blindness is irreversible even after maximum medical management, Integrated Evaluation of Disability assigns an impairment of 25%.
Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family
Published in Ophthalmic Genetics, 2019
Daiki Kubota, Noriko Oishi, Kiyoko Gocho, Sachiko Kikuchi, Kunihiko Yamaki, Tsutomu Igarashi, Hiroshi Takahashi, Nobuo Ishida, Takeshi Iwata, Atsushi Mizota, Shuhei Kameya
A novel homozygous GNAT1 mutation was found in three Japanese patients from the same family. The characteristics of their retinal disorder resembled those of Oguchi disease. The mutation was found by WES in DNA samples. There are 6 families from 8 earlier reports describing the clinical phenotypes of patents with the GNAT1 mutations (Table 2) (9–16). The mode of inheritance and the phenotype correlations differed among these patients; AD-CSNB (3 families), AR-CSNB (1 family), and AR-RCD (2 families). Nevertheless, all of the patients have been reported to have night blindness with extinguished or severely reduced rod ERGs. Our cases also had night blindness with extinguished rod responses, and the alterations could be caused by the absence or functional suppression of the alpha subunit of the rod transducin.
A novel GRK1 mutation in an Italian patient with Oguchi disease
Published in Ophthalmic Genetics, 2018
Dario Pasquale Mucciolo, Andrea Sodi, Vittoria Murro, Ilaria Passerini, Simona Palchetti, Elisabetta Pelo, Gianni Virgili, Stanislao Rizzo
Oguchi disease is a rare autosomal recessive, non-progressive retinal disorder, first described in the Japanese population. It refers to cases of congenital stationary night blindness (CSNB) in which patients have a characteristic golden-yellow fundus reflex which returns to its normal appearance after long dark adaptation. This particular finding, known as the Mizuo-Nakamura phenomenon,1 is characteristic but not exclusively of Oguchi disease. In fact, it has been reported in X-linked cone-rod dystrophy2 and X-linked retinoschisis.3