Search results for "congenital cataract"
showing 3 items of 3 documents
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
2017
Background Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community. Materials and methods Whole exome sequencing was performed as part of a "diagnostic odyssey" for suspected mitochon…
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disabilit…
2019
International audience; Purpose Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis simplex. We expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. It is a rare autosomal recessive condition characterized by hypotrichosis and intellectual disability (ID) or developmental delay (DD), frequently associated with early-onset epilepsy and other dermatological features. Methods Through a multicenter international collaborative study, we identified LSS pathogenic variants in APMR individu…
Visual outcomes and complications of congenital cataract surgery
2019
Corresponding author at: Department of Ophthalmology, 14, rue Paul-Gaffarel, 21000 Dijon, France. This work is issued from the oral presentation during the 123rd congress of the French Ophthalmological Society.; International audience; PURPOSE: To describe the visual results and postoperative complications of congenital cataract surgeries performed between 2005 and 2016. METHODS: A retrospective consecutive case series of congenital cataract surgeries was carried out at the Dijon University Hospital in France. Intraocular lens implantation was primary or secondary according to age. Pre- and post-operative assessment was performed through ophthalmologic consultations with orthoptic measureme…