Inbreeding and morbi-mortality: A short literature review from an | 54816
Journal of Clinical and Experimental Ophthalmology

Journal of Clinical and Experimental Ophthalmology
Open Access

ISSN: 2155-9570

+44 1223 790975

Inbreeding and morbi-mortality: A short literature review from an exceptional association of Usher syndrome and Von Recklinghausens neurofibromatosis

10th International Conference on Clinical & Experimental Ophthalmology

November 21-23, 2016 Dubai, UAE

Pepin Williams Atipo-Tsiba

Marien Ngouabi University, Republic of Congo

Scientific Tracks Abstracts: J Clin Exp Ophthalmol

Abstract :

Usher's syndrome is defined by the association of congenital sensorineural hearing loss of variable severity scalable or not and retinitis pigmentosa gradually blinding. There are three clinical types according to vestibular dysfunction and degree of hearing loss. Type II we are interested in this presentation is controlled by a gene locus D1S81 the long arm of chromosome 1. In this form, unlike the other two, the acquisition of language is possible and retinitis pigmentosa appears later. This retinitis is progressive and becomes very disabling around the age of 30 years. Neurofibromatosis is an autosomal dominant disease. There are two types. Von Recklinghausen's neurofibromatosis described in this work is the type I. It represents about 90% of clinical forms and is due to an abnormality on chromosome 17. It��?s most common ocular disorders are represented by iris nodules of Lisch, plexiform neuroma of the upper eyelid, the optic glioma. The coexistence of both diseases in the same person is exceptional; we found no cases in the literature. This observation brings a unique combination of Usher's syndrome and Von Recklinghausen's neurofibromatosis in a man, aged 40 native of Mauritania born of consanguineous union.

Biography :

Pepin Williams Atipo Tsiba has completed his PhD from Marien Ngouabi University of Brazzaville and Post-doctoral study in Switzerland. He has obtained the Federal Ophthalmology title from the Swiss Medical Federation (FMH) and the FEBO (Fellow European Board of Ophthalmology) title in 2005. He is an Assistant Professor in Ophthalmology at Marien Ngouabi University of Brazzaville. He is the Head of Ophthalmology Department at the University Hospital of Brazzaville. He has published over 20 articles in reputed journals.