AI Article Synopsis
- Usher syndrome involves both hearing loss and progressive vision loss, while Neurofibromatosis type 1 is a common genetic disorder affecting about 90% of neurofibromatosis cases.
- Both conditions are rare and genetic, with very low chances of occurring together in one person.
- This report discusses a unique case of a 40-year-old man from Mauritania, who has both conditions, highlighting the role of consanguineous marriages in increasing the likelihood of such genetic disorders.
Article Abstract
Usher syndrome is defined by the association of a progressive or non-progressive congenital sensorineural hearing loss with variable severity and a gradually blinding pigmentary retinopathy. Von Recklinghausen neurofibromatosis or Neurofibromatosis type 1 is the major clinically form of neurofibromatosis which occurs in approximately 90% of cases. Both types of disease are genetic in origin with very low prevalence. The probability of co-occurrence of these diseases in a single individual is exceptional. Inbreeding, as well as all genetic diseases, increases quite significantly the probability of their occurrence. Consanguineous marriages are still widespread in Maghreb and in some regions of the western African. This observation reports an exceptional case of this association in a 40-year-old man of Mauritanian origin born from a consanguineous union.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867733 | PMC |
| http://dx.doi.org/10.11604/pamj.2016.23.99.9025 | DOI Listing |
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