Background The genetic profile of retinitis pigmentosa (RP) in East Asian populations has
not been well characterised. Therefore, we conducted a large-scale sequencing study to …

Leber congenital amaurosis (LCA) is a genetically and clinically heterogeneous disease,
and represents the most severe form of inherited retinal dystrophy (IRD). The present study …

X-linked retinitis pigmentosa (XLRP) is a type of severe retinal dystrophy, and female
carriers of XLRP demonstrate markedly variable clinical severity. In this study, we aimed to …

Purpose To present phenotypic features of 22 patients with S-antigen (SAG) mutations.
Design Retrospective cohort study. Participants Twenty-one Japanese patients from 16 …

Background: Little is known about genotype–phenotype correlations of RP1-associated
retinal dystrophies in the Japanese population. We aimed to investigate the genetic …

Purpose To report genetic and clinical features of two unrelated Japanese patients with
early onset flecked retinal dystrophy. Methods Patients underwent comprehensive …

Purpose A single variant (p. G38D) in the GNAT1 gene, encoding the rod-specific transducin
α-subunit in phototransduction, has been reported only in one French family with Nougaret …

Japanese cedar pollinosis is a seasonal allergic disease caused by two major pollen
allergens: Cry j 1 and Cry j 2 antigens. To develop an oral vaccine to treat pollinosis, we …

This study aimed to evaluate retinal structure in the early stage of Leber's congenital
amaurosis (LCA) caused by RPGRIP1 mutations. Four patients from two families were …

Purpose. Leber congenital amaurosis (LCA), a genetically and clinically heterogeneous
disease, is the earliest onset retinitis pigmentosa (RP) and is the most severe of hereditary …