Julia Daukantaitė, Rasa Strupaitė-Šileikienė

Abstract

Alport syndrome (AS) is a hereditary disease that causes hearing impairment, kidney failure, and ocular abnor­malities. Because AS is a rare disease, it might remain undetected, meaning impacted individuals and their kin have low chances of being screened and receiving timely genetic counseling. Also, diagnosing AS requires high expertise and complex technology, which are expensive for most patients. These limitations might hinder them from getting the appropriate medical attention and hin­ders efforts to fight it. Additionally, a standard diagnos­tic method has not been established, so it is difficult to determine the prevalence accurately. This paper inves­tigates ocular manifestations of AS and the prevalence of the disease.

Keyword(s): Alport syndrome, fleck retinopathy, lenticonus, corneal dystrophy, cataracts.

DOI: 10.35988/sm-hs.2023.166
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