Epidemiologic study of rhegmatogenous retinal detachment in Japan from the Diagnosis Procedure Combination database over a 2-year period (2014-2015).

Purpose: To determine the incidence of rhegmatogenous retinal detachments (RRDs) and proliferative vitreoretinopathies (PVRs) and their distribution by age and sex in hospitalized patients in Japan.

Study Design: Retrospective nationwide observational study.

Methods: Information on the number of inpatients primarily diagnosed with RRD or PVR and their age and sex were collected from the Diagnosis Procedure Combination (DPC) database for 2014 and 2015.

Familial exudative vitreoretinopathy with mutation without signs of Loeys-Dietz syndrome.

: Familial exudative vitreoretinopathy (FEVR) is an inherited retinal disorder with high genetic heterogeneity, and it is characterized by a defect in the development of the retinal vascular system. Loeys-Dietz syndrome (LDS) is an autosomal dominant systemic connective tissue disorder that is caused by mutations in the genes related to transforming growth factor signaling systems including the gene. Two earlier studies reported that patients with LDS from mutations in the gene were associated with FEVR-like retinal phenotype.

ULTRA-WIDE FIELD FUNDUS AUTOFLUORESCENCE IMAGING OF EYES WITH STICKLER SYNDROME.

Purpose: To determine the characteristics of fundus autofluorescence (FAF) images and visual functions in eyes with Stickler syndrome using ultra-widefield FAF images.

Methods: Forty-six eyes of 26 patients with mutations in the COL2A1 gene underwent ultra-widefield FAF imaging. The eyes were categorized into three types; no signs of abnormal AF, predominantly hyperfluorescent AF (hyper-AF), and predominantly hypofluorescent AF (hypo-AF).

Electroretinograms of eyes with Stickler syndrome.

Purpose: To determine the characteristics of the full-field electroretinograms (ERGs) of eyes with Stickler syndrome.

Methods: Twenty-two eyes of 14 Japanese patients from nine families with Stickler syndrome were studied. All of the patients were found to have mutations in the COL2A1 gene and had undergone ERG recordings.

Novel mutations in the gene in Japanese patients with X-linked congenital retinoschisis.

X-linked congenital retinoschisis (XLRS) is an inherited retinal disorder characterized by reduced central vision and schisis of the macula and peripheral retina. XLRS is caused by mutations in the gene. We have identified 37 different mutations in the gene, including 12 novel mutations, in 67 Japanese patients from 56 XLRS families.

Changes in expression of aquaporin-4 and aquaporin-9 in optic nerve after crushing in rats.

The purpose of this study was to determine the temporal and spatial changes in the expression of AQP4 and AQP9 in the optic nerve after it is crushed. The left optic nerves of rats were either crushed (crushed group) or sham operated (sham group), and they were excised before, and at 1, 2, 4, 7, and 14 days later. Four optic nerves were pooled for each time point in both groups.