Acta Scientific Ophthalmology (ISSN: 2582-3191)

Case Report Volume 3 Issue 12

Syndromic Retinitis Pigmentosa: Case Report of Usher Syndrome in Bamako

Théra JP1*, Tiama JM1, Konipo A2 and Dakouo P2

1Institute of African Tropical Ophthalmology, Bamako, Mali
2Pediatric Ophthalmologist, Consultant CCBRT Hospital, Dar Es Salam, Tanzania

*Corresponding Author: Théra JP, Institute of African Tropical Ophthalmology, Bamako, Mali.

Received: November 04, 2020; Published: November 25, 2020

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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

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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.




Metrics

Acceptance rate35%
Acceptance to publication20-30 days
ISI- IF1.042
JCR- IF0.24

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