Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, Kazushige Tsunoda, Mineo Kondo, Seong Joon Ahn, Anthony G Robson, Izumi Naka, Jun Ohashi, Hui Li, Lizhu Yang, Gavin Arno, Nikolas Pontikos, Kyu Hyung Park, Michel Michaelides, Hisateru Tachimori, Hiroaki Miyata, Ruifang Sui, Se Joon Woo, Kaoru Fujinami
PURPOSE: To characterize the clinical effects of two RP1L1 hotspots in patients with East Asian occult macular dystrophy (OMD). METHODS: Fifty-one patients diagnosed with OMD harboring monoallelic pathogenic RP1L1 variants (Miyake disease) from Japan, South Korea, and China were enrolled. Patients were classified into two genotype groups: group A, p.R45W, and group B, missense variants located between amino acids (aa) 1196 and 1201. The clinical parameters of the two genotypes were compared, and deep learning based on spectral-domain optical coherence tomographic (SD-OCT) images was used to distinguish the morphologic differences...
January 2, 2024: Investigative Ophthalmology & Visual Science