The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients.

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy. RPGRIP1-related LCA accounts for 5-6% of LCA. We performed whole-exome sequencing and whole-genome sequencing (WGS) on 29 patients with clinically suspected LCA and examined ophthalmic findings in patients with biallelic pathogenic variants of RPGRIP1. In addition to five previously reported cases, we identified five cases from four families with compound heterozygous RPGRIP1 variants using WGS. Five patients had null variants comprising frameshift variants, an Alu insertion, and microdeletions. A previously reported 1339 bp deletion involving exon 18 was found in four cases, and the deletion was relatively prevalent in the Japanese population (allele frequency: 0.002). Microdeletions involving exon 1 were detected in four cases. In patients with RPGRIP1 variants, visual acuity remained low, ranging from light perception to 0.2, and showed no correlation with age. In optical coherence tomography images, the ellipsoid zone (EZ) length decreased with age in all but one case of unimpaired EZ. The retinal structure was relatively preserved in all cases; however, there were cases with great differences in visual function compared to their siblings and a 56-year-old patient who still had a faint EZ line. Structural abnormalities may be important genetic causes of RPGRIP1-related retinal dystrophy in Japanese patients, and WGS was useful for detecting them.

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.

We report a 1-year-old girl with congenital stromal corneal dystrophy confirmed by genetic analysis. The ocular phenotype included diffuse opacity over the corneal stroma bilaterally. We performed a genetic analysis to provide counseling to the parents regarding the recurrence rate. Whole exome sequencing was performed on her and her parents, and a novel de novo variant, NM_001920.5: c.953del, p.(Asn318Thrfs*10), in the DCN gene was identified in the patient.

Risk factors for early-onset high myopia after treatment for retinopathy of prematurity.

PURPOSE: To investigate the prevalence of myopia and high myopia and the risk factors for high myopia in infants at 3 years of age with retinopathy of prematurity (ROP). STUDY DESIGN: Retrospective, observational. METHODS: We retrospectively analyzed all 89 preterm infants (178 eyes) with medical records of ROP between October 2008 and March 2018 at Toho University Medical Center Omori Hospital; these infants had a birth weight of less than 1,500 g and were followed up at least until 3 years of age. Cycloplegic autorefraction was performed to measure refractive outcomes. Multivariate analysis was performed to determine the risk factors for early-onset high myopia at 3 years of age. RESULTS: The prevalence of myopia and high myopia was significantly higher in the treated group (59.7% and 17.9%, respectively) than in the untreated group (19.7% and 0%, respectively) (p<0.001). Spherical equivalent (SE) at age 3 was more myopic in the treatment group (-1.72 ± 3.53 D) than in the untreated group (0.54 ± 1.08 D) (p<0.001). In the sub-analysis of the treatment group, there was a significant correlation between SE at age 3 and the number of laser shots (R2 = 0.36, p<0.001). Multivariate logistic analysis showed that the number of laser shots was an independent risk factor for early onset high myopia (p<0.05). CONCLUSION: The number of laser shots is an independent risk factor for early onset high myopia, and preterm infants who have undergone laser treatment for severe ROP should be considered for early optical correction with cycloplegic refractive examination.