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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. Retrospective nationwide observational study. 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. The incidence was determined using the Japanese population report published by the Public Management Ministry’s Statistics Bureau. The incidence of RRD in these hospitalized patients was 10.9/100,000, with 15.0/100,000 in men and 7.1/100,000 in women, and that of PVR was 2.1/100,000, with 2.9/100,000 in men and 1.3/100,000 in women. The incidence in men was twice that in women for both RRD and PVR. The distribution of RRD by age was monophasic, with a peak at 50 years for both sexes, and that of PVR was at peak in the 60 s for men and in the 70 s for women. PVR was more common than RRD in children aged younger than 10 years, but the incidence of RRD was higher in the other age groups. A study of the DPC database can provide useful information on the incidences of RRD and PVR in hospitalized patients in Japan.

Autosomal dominant foveal hypoplasia (FVH1) is a rare disorder associated with mutations in the PAX6 gene. As an isolated disease entity, FVH1 does not include ocular disorders such as aniridia, microphthalmia, albinism, and achromatopsia. However, it only includes isolated foveal hypoplasia and foveal hypoplasia with presenile cataract. The purpose of this report is to present our findings in four patients from two families with FVH1 without visible ophthalmic macular abnormalities. A review of the medical records of two families with FVH1 and genetic confirmation of mutations in the PAX6 gene. Fundus photographs, optical coherence tomographic (OCT) and OCT angiographic (OCTA) images, and slit-lamp anterior segment findings were determined. The type of mutation of the PAX6 gene was determined. A 3-year-old girl (Patient 1) had signs and symptoms of an impairment in the development of vision without other retinal abnormalities OU. OCT images showed a shallow foveal pit, and OCTA showed the absence of the foveal avascular zone. The second patient (Patient 2) was a 6-year-old girl with unilateral mild cataract and shallow foveal pits OU. Similar shallow foveal pits were found in her asymptomatic mother (Patient 3) and maternal grandfather (Patient 4). Although the iris and posterior fundus were normal, all patients with FVH1 had goniodysgenesis. Genetic testing of the PAX6 gene revealed that Patient 1 had a novel heterozygous mutation (p.Asn365Lys) as a de novo mutation, and Patients 2, 3 and 4 had a novel heterozygous mutation (p.Pro20Ser). Heterozygous mutations in the PAX6 gene can cause FVH1 with nearly normal appearing macula. FVH1 is difficult to diagnose, but detailed observations of the foveal structure and vasculature, and detecting the presence of goniodysgenesis can be helpful in identifying patients with FVH1.

To report a case of posterior microphthalmos caused by novel compound heterozygous mutations in the membrane-type frizzled-related protein (MFRP) gene.A 9-year-old girl with posterior microphthalmos underwent a standard ophthalmological examination and genetic screening by direct sequencing.The patient had a short axial length, high hyperopia, crowded optic discs, and dilation and tortuosity of the retinal vessels. No signs of retinitis pigmentosa were present. A diagnosis of posterior microphthalmos rather than nanophthalmos was made because the corneal diameter and anterior chamber depth were normal. Genetic analysis revealed two novel nonsense mutations in the MFRP gene, Q123X and W443X. Her parents were heterozygous carriers of one of the mutations.Posterior microphthalmos can be caused by nonsense compound heterozygous mutations in the MFRP gene.

To report the current status of patients with microphthalmia based on a cross-sectional survey of patient hospital visits. A questionnaire was sent to the departments of ophthalmology in 1,151 major Japanese hospitals to survey the following: the number of patients with microphthalmia who visited the outpatient clinics between January 2008 and December 2009; gender; age; family history; associated ocular anomalies; complications and systemic diseases; surgical treatment; vision and management. A retrospective quantitative registry of 1,254 microphthalmic eyes (851 patients) from 454 hospitals (39.4%) was compiled. Of the patients for whom data were available, 50% ranged in age from 0 to 9 years. The major ocular findings were nanophthalmos, coloboma, and vitreoretinal malformations. Ocular complications frequently developed, including cataracts, glaucoma, and retinal detachment. Surgery was performed in 21.4% of all cases, and systemic diseases were present in 31% of all cases. The vision associated with microphthalmia exceeded 0.1 in about 30% of the eyes. Glasses and low vision aids were used by 21.6% of patients. Patients with microphthalmia often have ocular and systemic anomalies. Early assessment and preservation of vision and long-term complication management are needed.

We report a rare case with a classic temporal optic disc pit (ODP) showing the progression of an associated nerve fiber layer defect (NFLD) with the corresponding visual field defect (VFD). We describe the patient’s medical records and review the pertinent literature. A 54-year-old woman had a temporal ODP, which was considered to be congenital, associated with both NFLD expanded to both the upper and lower sides of the horizontal line and corresponding VFD and a small ODP-like excavation at the 6.5 o’clock position on the disc edge with a narrow NFLD OD. During the 5-year follow-up period, both the NFLD and VFD associated with the temporal pit progressed without serous retinal detachment. The small ODP-like excavation located at the 6.5 o’clock position also showed progressive NFLD in the temporal lower quadrant with advanced VFD, which suggested that the excavation might be associated with glaucoma. Based on the observation that the VFD occupied the two temporal quadrants with no step, an NFLD with corresponding VFD associated with a classic temporal ODP, although not considered to be related to glaucoma, can progress.

Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis with approximately one-third of cases with associated ocular complications. Deletion of exons 4 to 10 of the nuclear factor kappaB essential modulator (NEMO) gene accounts for the majority of new mutations. The disease is more commonly found among Caucasians. We studied a case of an IP patient in Japan, and the genomic rearrangements.An 11-month-old female infant exhibited the skin lesions of IP. Ocular findings were total retinal detachment with a retrolental fibrovascular mass in the right eye, and patchy retinal avascular zones and neovascularization in the left eye. The genomic rearrangement of NEMO was investigated by a polymerase chain reaction (PCR)-based diagnostic test. A skewed X-inactivation assay was also performed using the human androgen receptor gene as a genetic marker.Deletion of exons 4 to 10 in NEMO was detected in the proband and in other female members of her family. A complete skewing of the X-inactivation pattern causing IP was observed, indicating cells having no protection against apoptosis in response to tumor necrosis factor as the pathogenicity of the disease.This is the first case report of a Japanese female phenotype demonstrating the common genomic rearrangement in the NEMO gene.