Congenital cataract is a rare but severe paediatric visual impediment, often caused by variants in one of several crystallin genes that produce the bulk of structural proteins in the lens. Here we describe a pedigree with autosomal dominant isolated congenital cataract and linkage to the crystallin gene cluster on chromosome 22. No rare single nucleotide variants or short indels were identified...

We measured three aspects of vision in children treated for unilateral congenital cataract: visual resolution, the symmetry of optokinetic nystagmus (OKN), and peripheral vision. Good visual resolution was achieved by children who had had the earliest treatment and who had had the normal eye patched close to 50% of the waking time throughout early childhood. All children treated for unilateral ...

INTRODUCTION Small incisions in cataract surgery have shown to reduce tissue damage, postoperative inflammation and pain. OBJECTIVE To describe in detail the surgical management challenges and clinical results of bimanual micro-incision phacoemulsification cataract surgery in children with congenital cataract. MATERIALS AND METHODS In 22 eyes of 14 children aged from 11 months to 17 years w...

PURPOSE To identify the disease-causing gene in a Chinese family with autosomal dominant congenital cataract. METHODS Clinical and ophthalmologic examinations were performed on all members of a Chinese family with congenital cataract. Nine genes associated with congenital cataract were screened using direct DNA sequencing. Mutations were confirmed using restriction fragment length polymorphis...

Congenital cataract is a leading cause of visual disability in children. Inherited isolated (non-syndromic) cataract represents a significant proportion of cases and the identification of genes responsible for inherited cataract will lead to a better understanding of the mechanism of cataract formation at the molecular level both in congenital and age-related cataract. Crystallins are abundantl...

The main causes of infantile cataract are genetic, metabolic disorders, prematurity and intrauterine infections. Other causes of childhood cataract in older children include trauma, drug-induced cataract, radiation therapy and laser therapy for ROP. Trauma is one of the commonest cause of unilateral cataract in the developing countries. Bilateral cataracts occur commonly due to the long-term us...

Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC) in a Chinese family using next-generation sequencing technology. This family included eight unaffected and five affected individuals. After complete ophthalmic examinations, the blood samples o...