Congenital cataracts are an important cause of bilateral visual impairment in infants. In a four-generation family of English descent, we mapped dominant congenital posterior polar cataract to chromosome 11q22-q22.3. The maximum LOD score, 3.92 at recombination fraction 0, was obtained for marker D11S898, near the gene that encodes crystallin alpha-B protein (CRYAB). By sequencing the coding re...

PURPOSE To investigate maternal, demographic, and pre- and perinatal risk factors for idiopathic congenital/infantile (ICI) cataract. METHODS Based on national registries, a cohort of all children born in Denmark and aged 0 to 17 years during 1977 to 2001 was established, and congenital/infantile cataract cases were identified. Cases of unknown/idiopathic cause were included in the study. Ass...

Introduction: Pediatric cataracts contribute a very significant proportion of avoidable blindness in children. Despite the recent advances made in pediatric cataract management, many patients may not be satisfied with their quality of life (QOL). We conducted this study to evaluate the quality of life in pseudophakic children operated both eyes for congenital or development cataract. We also as...

PURPOSE To study the development of grating acuity in children treated for dense congenital unilateral or bilateral cataract and to examine how variations in treatment affect grating acuity during early childhood. METHODS The authors used optokinetic nystagmus (OKN), preferential looking (PL), or both to measure the grating acuity of children treated for congenital cataract in one eye (n = 63...

purpose: to evaluate the early and intermediate outcomes of ahmed glaucoma valve implantation in pediatric glaucoma at labbafinejad medical center. methods: this was a retrospective chart review of 101 eyes of 80 consecutive patients with pediatric glaucoma who underwent ahmed glaucoma valve implantation. success was defined as an intraocular pressure less than 21 mmhg with or without medicatio...

UNLABELLED Abstract PURPOSE We present the clinical, paraclinical and therapeutic features in a patient with secondary congenital aphakia. METHODS A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical ...

PURPOSE To analyze the results in a series of children submitted to unilateral cataract surgery. METHODS A retrospective study was conducted through the analysis of 35 patient files from the Congenital Cataract Service of UNIFESP/EPM. RESULTS The main cause of unilateral cataract was idiopathic, the second cause was ocular trauma and the third cause was congenital rubella. Initial visual ac...

PURPOSE Congenital cataract is one of the most frequent causes of visual impairment and childhood blindness. Approximately one quarter to one third of congenital cataract cases may have a genetic cause. However, phenotypic variability and genetic heterogeneity hamper correct genetic diagnosis. In this study, we used whole-exome sequencing (WES) to identify pathogenic mutations in two Korean fam...

BACKGROUND Congenital cataract is the most frequent cause of blindness during infancy or early childhood. To date, more than 40 loci associated with congenital cataract have been identified, including at least 26 genes on different chromosomes associated with inherited cataract. This present study aimed to identify the genetic mutation in a six-generation Chinese family affected with congenital...