To review a case with isoametropic, accomodative esotropic amblyopia and congenital posterior polar cataract. A 12 years old child with visual acuities 2/10 7/10, refractive error +9,00/ +7,00 and congenital cataract was observed previously for 5 years until the visual acuity of the right eye dropped 2 lines due to cataract in the more amblyopic eye. At first more amblyopic eye was operated and...

PURPOSE Congenital cataracts occur in 3-4 per 10,000 live births and account for 5% to 20% of pediatric blindness worldwide. With more than 37 genes known to be associated with isolated congenital cataract, whole exome sequencing (WES) was recently introduced as an efficient method for screening all known factors. METHODS Whole exome analysis in two members of a four-generation pedigree affec...

Aim: It was aimed to present a summary of the articles published between 1980-2022 on congenital cataract, identify most cited in field, analyze active journals and development countries by years.Material Method: Search made using keywords “Congenital Cataract”, “OR: Pediatric Infantile “AND: (Year Published)”, English (Language)” Web Science (WOS) database via Boolean operators (Access Date: 0...

PURPOSE To identify the genetic cause responsible for the autosomal dominant hereditary cataract in a Chinese family. METHODS A whole family of a proband who has a dominant congenital pulverulent nuclear cataract was recruited into Zhongnan Hospital. The lenses of patients were observed by a slit-lamp microscope, and the lenses of the proband's mother were analyzed by scanning electron micros...

Human congenital cataract has a diverse aetiology. In the proportion of cases where the cause is genetic, the disease shows wide phenotypic and genetic heterogeneity. Over the past few years, much research has been devoted to mapping the genes that underlie the disorder. This has been helped by the extensive array of naturally occurring and genetically engineered mouse cataract models and the a...

THIS case of cataract in a woman with bilateral congenital colobomata of the iris, and its extraction, is presented because of its rarity as a surgical event. The incidence of coloboma of the iris and retina is variously given by different workers. Clarke and his colleagues found twelve cases of typical colobomata of the iris in a series of 500 ocular abnormalities (Clarke, Bancroft, Allen, Wan...

Supernumerary nostril is a very rare congenital anomaly. It can be unilateral or bilateral, and it sometimes occurs in the presence of other congenital deformities. Behind the external opening of a supernumerary nostril is a small accessory nasal cavity, which may or may not communicate with the normal nasal cavity on the same side. We describe a new case in which the supernumerary nostril with...

PURPOSE Congenital cataracts are one of the most treatable causes of visual impairment and blindness during infancy. Approximately 50% of all congenital cataract cases may have a genetic cause. Once there is an intimate relationship between crystallin genes and lens transparency, they are excellent candidate genes for inherited cataract. The purpose of this study was to investigate mutations in...

PURPOSE Congenital cataract is a leading cause of childhood blindness. Mutations in the EPHA2 gene are one of the causes of inherited congenital cataract. The EPHA2 gene encodes a membrane-bound tyrosine kinase receptor and is highly expressed in epithelial cells, including in the ocular lens. Signaling through the EPHA2 receptor plays a pivotal role in epithelial cell homeostasis. The aim of t...

PURPOSE To assess whether the early light deprivation induced by congenital cataract may influence the cone-driven retinal function in humans. METHODS Forty-one patients affected by congenital cataract (CC) who had undergone uncomplicated cataract extraction surgery and intraocular lens implant, and 14 healthy subjects (HS) were enrolled. All patients underwent complete ophthalmological and o...