Abstract

Purpose: To report a very rare case of retinitis pigmentosa.

Case Report: We report the case of a 25-year-old man, admitted in the Institute of African Tropical Ophthalmology (IOTA) of Bamako for progressive visual acuity loss associated with deafness, in whom, after clinical investigation, the diagnosis of Usher syndrome type 2 was confirmed.

Discussion: Usher syndrome is a rare inherited genetic disorder. It is the first genetic cause associating retinal damage (retinitis pigmentosa) with hearing damage (deafness). Symptomatology varies according to the type.

Conclusion: Usher syndrome is a genetically diverse entity and is a leading cause of deaf-blindness. There is no specific care so far, but genetic counselling is of vital importance for its prevention.

Keywords: Usher; Retinitis Pigmentosa; Deafness

References

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Citation

Citation: Théra JP., et al. “Syndromic Retinitis Pigmentosa: Case Report of Usher Syndrome in Bamako". Acta Scientific Paediatrics 3.12 (2020): 02-04.

Copyright

Copyright: © 2020 Théra JP., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.