| Abstract [eng] |
Alport syndrome (AS) is a hereditary disease characterized by hearing impairment, kidney failure, and ocular abnormalities (Bamotra, Meenakshi, & Qayum, 2017). 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. This paper investigates ocular manifestations of AS and the prevalence of the disease. A majority of ocular abnormalities in AS do not impact vision but are essential in diagnosing the disease and evaluating how it was inherited (Savige et al., 2016). Diagnosis is critical since it can be used to predict whether other family members are impacted. Early detection and treatment of AS can delay complications and end-stage kidney failure. For instance, lenticonus often develops in middle-age years when kidney failure has already developed. Therefore, an early AS diagnosis may save the lives of affected individuals and their family members because it lowers the risk of early renal failure. There are no clear statistics about the prevalence of AS across the world. Based on existing estimates, the prevalence varies from 1 in 5,000 to 1 in 53,000 people. Similarly, the situation in Baltic countries remains largely unknown (Savige et al., 2021). The prevalence of AS in Baltic countries can be estimated using the data related to renal failure. Alport syndrome is the second largest risk factor for inherited kidney failure (Savige et al., 2021). Patients with ocular manifestations, such as retinopathy, also tend to develop renal failure (Shaw et al., 2007). Baltic countries have a low prevalence of end-stage kidney failure. For instance, the incidence of renal failure in Estonia ranges from 22–85 persons per million (Thurlow et al., 2021). The people treated for end-stage kidney failure in Latvia range from 117–540 persons per million (Thurlow et al., 2021). This literature review focuses on the prevalence of AS in different countries and ocular manifestations. |
