Low incidence of sight-threatening retinopathy of prematurity in infants born before 28 weeks gestation at a neonatal intensive care unit in Japan.

Improvement in neonatal care has led to increased survival rates of very premature infants. Accordingly, there are now more extremely preterm infants who are at risk of developing retinopathy of prematurity (ROP). ROP is a disorder of low birth-weight preterm infants and may lead to blindness. However, the prevalence of ROP varies globally, depending on different neonatal and ophthalmic care. Therefore, we studied the incidence and progression of ROP in extremely preterm infants in Japan. In addition, we investigated the characteristics and the clinical courses of the infants who progressed to sight-threatening ROP. A total of 3,154 infants were born at the Japanese Red Cross Sendai Hospital between 2009 and 2011, including 53 live-born infants born before 28 weeks' gestation. Two extremely preterm infants died before the first ROP examination. Among the survived 51 infants (the birth-weight ranged from 309 to 1,354 g, mean 779 g), 36 infants (70.6%) developed ROP: 18 infants with mild ROP and 18 infants with severe ROP. Eight out of the 51 infants (15.7%) underwent laser treatment. None of the infants born at older than 27 weeks 0 day of gestation required any treatment for ROP. In conclusion, most of extremely preterm infants develop some degree of ROP. However, in the majority of these infants the ROP never progressed beyond mild disease and resolved spontaneously without treatment. Sight-threatening ROP was rare. The present study clarifies the natural history of ROP in extremely preterm infants with active perinatal care.

Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population.

PURPOSE: Mutations of the CYP1B1 gene cause primary congenital glaucoma (PCG), Peters anomaly, and juvenile open-angle glaucoma (JOAG). The aim of this study was to determine the spectrum and role of the CYP1B1 gene in Japanese patients with PCG or JOAG. METHODS: Genomic DNA was extracted from the leukocytes of 18 unrelated patients with PCG and 21 unrelated patients with JOAG. All of the patients developed high intraocular pressure (IOP) before the age of 35 years. One hundred unrelated healthy adults with normal IOP were examined in the same way. The three exons of the CYP1B1 gene were amplified by polymerase chain reaction and directly sequenced. RESULTS: Mutational screening and sequence analyses of the CYP1B1 gene revealed four mutations in four patients with PCG: p.Asp192Val, c.4776insAT, p.Val364Met, and p.Asp430Glu. The first three mutations have been reported in other Japanese PCG patients, but Asp430Glu is a new mutation. No mutations were found in the CYP1B1 gene of the JOAG patients. CONCLUSIONS: PCG in approximately 20% of Japanese patients may be associated with CYP1B1 mutations, but JOAG is not. The three mutations p.Asp192Val, c.4776insAT, and p.Val364Met appear to be common in the Japanese population and might be useful in genetic screening for PCG.

Introduction of the Low Vision Evaluator (LoVE) for children.

PURPOSE: To determine whether the Low Vision Evaluator (LoVE) can grade the visual acuity of young children with light perception and hand movement acuity into finer acuity steps and at what age reliable measurements can be obtained. METHODS: Two hundred twenty children were tested with the LoVE. Each eye was tested separately, and each stimulus magnitude (intensity x duration) was presented three times. Three catch trials per eye also were presented. RESULTS: Scores ranged from -8 to -1 on variable-duration tests and from 22.5 to 37.5 dB on fixed-duration tests for four children with hand movement vision. Scores ranged from -12 to 0 on variable-duration tests and from 12.5 to 40 dB on fixed-duration tests for five children with light perception vision. Reliable measurements were obtained at different times on different days. Mean scores for children with counting finger vision or better were significantly better than scores for eyes with light perception and hand movement (P < .001 and P < .01, respectively). Reliability was less for children younger than age 4 years. CONCLUSIONS: The LoVE is capable of grading the visual function of children with light perception and hand movement vision into finer steps. Reliable measurements can be obtained for children age 4 years and older.