Associated Papers
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
A homozygous POC1B variant causes recessive cone-rod dystrophy.
Peturson AC et al.
Ophthalmic Genetics, 2021
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.
Kameya S et al.
Investigative Ophthalmology & Visual Science, 2019
Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.
Kominami A et al.
Ophthalmic Genetics, 2018
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