Retinitis pigmentosa sine pigmento in usher syndrom

Author: Meriem Chokayri (Morocco)

Co-authors: Soukaina Bouziane, Khalil Zrikem, Leila Benhmidoune, Adil Mchachi, Rayad Rachid, Mohamed El Belhadji

Purpose

Retinitis pigmentosa sine pigmento is a type of retinitis pigmentosa that is rarely seen in usher syndrome.By identifying atypical presentations of the disease, we hope to contribute to a better knowledge of ophthalmic conditions that may be seen in association with Usher syndrome.

Setting/Venue

ophthalmology department of 20 Aout hospital

Methods

Prospective study of a case carried out in our department in February of 2021

Results

We report the case of a 10-year old patient, born to consanguineous parents, presenting with congenital deafness. Best corrected visual acuity was OD 4/10, OS 3/10. Fundus examination revealed pallor of the optic disks, diffuse retinal blood vessel narrowing, no retinal pigmentation and macular edema in both eyes. Electroretinography confirmed the diagnosis of retinitis pigmentosa sine pigmento. treatment with acetazolamide did not improve visual acuity in this case

Conlusions

Usher syndrome is a rare genetic disease combining deafness and blindness. Deafness is typically present from birth while retinitis pigmentosa is progressively leading to blindness.

Financial Disclosure

no financial interest

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