Significats de congenital cataract en anglès

Autosomal dominant congenital cataract is a clinically and genetically heterogeneous lens disease.

Exclusion criteria included incomplete pedigree phenotype information or aphakic glaucoma following congenital cataract surgery.

This mutation was not identified in 100 additional unrelated sporadic and familial congenital cataract patients.

This is the first report of a mutation, in this gene, resulting in isolated congenital cataract.

This is one of those instances of congenital cataract which might have been relieved long ago.

Four children from two families with characteristics of Marinesco-Sjögren syndrome ( congenital cataract, ataxia) are presented.

Methods: Nineteen mutation hot spots associated with autosomal dominant congenital cataract have been screened by PCR-based DNA sequencing.

A large multigenerational pedigree was investigated for the genetic cause of a posterior polar autosomal dominant congenital cataract.

Conclusions: Most caregivers reported being able to adhere to prescribed patching shortly after extraction of a unilateral congenital cataract.

Purpose: To establish a chick model to investigate the trends of eye growth and emmetropization after early lensectomy for congenital cataract.

The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity.

No mutations of the PITX3 gene were identified in 9 families with posterior polar congenital cataract.

Identification of the genes that cause paediatric and congenital cataract should help clarify the aetiology of some sporadic and unilateral cataracts.

The purpose of this study was to identify the disease-causing mutation in a Chinese family affected by bilateral, autosomal dominant congenital cataract.

Here, we report three novel and one recurrent disease-causing sequence variant in the gap junctional protein encoding genes causing autosomal dominant congenital cataract.

Results: The clinical picture was characterized by bilateral congenital cataract, developmental delay, and slowly progressive neurological impairment with spasticity, cerebellar ataxia, and mild-to-moderate mental retardation.