Novel<i>RP1L1</i>Variants and Genotype–Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy

Kaoru Fujinami, Shuhei Kameya, Sachiko Kikuchi, +20

Investigative Ophthalmology & Visual Science

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency

Lizhu Yang, Kaoru Fujinami, Shinji Ueno, +24

Scientific Reports

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

Yu Fujinami‐Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi, +83

Scientific Reports

<i>RDH5</i>-Related Fundus Albipunctatus in a Large Japanese Cohort

Satoshi Katagiri, Takaaki Hayashi, Masaki Nakamura, +17

Investigative Ophthalmology & Visual Science

Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation

Kazuki Kuniyoshi, Hiroyuki Sakuramoto, Kazutoshi Yoshitake, +7

Documenta Ophthalmologica

Ocular DiseaseRetinaMendelian DisorderOphthalmologyGenetic Disorder +6

Intravitreal injection of bevacizumab for retinopathy of prematurity

Kazuki Kuniyoshi, Koji Sugioka, Hiroyuki Sakuramoto, +3

Japanese Journal of Ophthalmology

Ocular DiseaseOphthalmologyIntravitreal InjectionOcular PathologyMedicine

Phenotypical Characteristics of<i>POC1B</i>-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Shuhei Kameya, Kaoru Fujinami, Shinji Ueno, +18

Investigative Ophthalmology & Visual Science

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with <i>GUCY2D</i>-Associated Retinal Disorder

Xiao Liu, Kaoru Fujinami, Kazuki Kuniyoshi, +22

Translational Vision Science & Technology

Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia

Kazuki Kuniyoshi, Sanae Muraki-Oda, Hisao Ueyama, +10

Japanese Journal of Ophthalmology

ChannelopathiesOcular DiseaseRetinaOphthalmologyGenetics +6

Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy

Kazuki Kuniyoshi, Kazuho Ikeo, Hiroyuki Sakuramoto, +8

Documenta Ophthalmologica

Ocular DiseaseRetinaOphthalmologyGenetic DisorderGenetics +7