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



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



  1. Von Graefe A. “Vereizelte Beobachtungen und Bemerkungen. Exceptionnelles verhalter des Gesichts feldes bei Pigmentenarter der Netzhalt”. Arch Klin Ophthalmology 4 (1858): 250-253.
  2. Usher C. “On the inheritance of retinis pigmentosa, with notes of cases”. Royal London Ophthalmology Hospital Reports 19 (1914): 130-236.
  3. Smith RJ., et al. “Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium”. American Journal of Medical Genetics 50 (1994): 32-38.
  4. Kimberling WJ., et al. “Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children”. Genetics in Medicine 12 (2010): 512-516.
  5. Boughman JA., et al. “Usher syndrome: definition and estimate of prevalence from two high risk population”. Journal of Chronic Diseases 8 (1983): 595-603.
  6. Möller CG., et al. “Usher syndrome: an otoneurologic study”. Laryngoscope 99 (1989): 73-79.
  7. Pakarinen L., et al. “Usher syndrome type 3 (USH3): the clinical manifestations in 42 patients”. Scandinavian Council of Logopedics and Phoniatrics 20 (1995): 141-150.
  8. Fishman GA., et al. “Prevalence of foveal lesions in type 1 and type 2 Usher’s syndrome”. Archives of Ophthalmology 113 (1995): 770-773.
  9. Hope CI., et al. “Usher syndrome in the city of Birmingham - prevalence and clinical classification”. British Journal of Ophthalmology 81 (1997): 46-53.
  10. Edwards A., et al. “Visual acuity and visual field impairment in Usher syndrome”. Archives of Ophthalmology 116 (1998): 165-168.
  11. Bonneau D., et al. “Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers”. Journal of Medical Genetics 3 (1993): 253-254.
  12. György B., et al. “Rescue of hearing by gene delivery to inner-ear hair cells using exosome-associated AAV”. Molecular Therapy 25 (2017): 379-391.
  13. Maubaret C., et al. “Novel mutations in MYO7A and USH2A genes in Usher Syndrome”. Ophthalmic Genetics 1 (2005): 25-29.


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


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

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