Posters

Usher syndrome (about one case)

Poster Details

First Author: Z.Hammoumi MOROCCO

Co Author(s): M. Chafik   M. Yassine   R. Nasrouni   L. Elmaaloum   B. Allali   A. El Kettani     

Abstract Details

Purpose:

The aim of our work is to show the interest of genetic counseling to prevent the occurrence of blindness and deafness in children whose parents have the embarrassment of Usher syndrome.

Setting:

Pediatric ophthalmology service. Hospital 20 august 1953. Casablanca.

Methods:

Our study concerns a single case of a 13-year-old child presenting a bilateral blindness progressively evolving over the last 3 years and a progressive bilateral deafness. Our patient received an ophthalmological examination, ORL and neurological completed with complementary examinations, an electroretinogram and an audiogram. No treatment has been proposed and undertaken, but the importance of genetic prevention is noted. A clearer picture of the localization, interactions and functions of the Usher proteins in the retina will facilitate progress towards developing gene therapy prevention of Usher blindness.

Results:

K.A.,13-years-old,the youngest of five siblings,with a sister having the same symptomatology.It started in 2017 with a progressive decrease in visual acuity of the right eye at the age of 10-years and the left two years later,associated with deafness.Ophthalmologic examination found visual acuity limited to positive light perception in the right eye and hand-movements in the left,slit-lamp examination was normal with an optical atrophy,small vessels and diffuse retinal pigmentation in the fundoscopic examination.The ORL examination was normal but the tone audiometry showed a audiometric loss between 50-70 decibels.The electroretinogram showed a global extinction in photopic and scotopic,confirming advanced global retinal degeneration.

Conclusions:

Usher syndrome has turned out to be more genetically complex than clinicians would have first envisaged. Nevertheless, the identification of the genes involved now appears to be nearing completion. Understanding the retinal roles of the Usher proteins represents a current major challenge. A clearer picture of the localization, interactions and functions of the Usher proteins in the retina will facilitate progress towards developing gene therapy prevention of Usher blindness.

Financial Disclosure:

None