Overview
To determine the patterns of ocular findings in people with albinism in Bujumbura, Burundi
Principal Investigator
Abstract
Background: Albinism is a genetic condition of an inborn error of metabolism resulting in faulty melanin biosynthesis. There can be either a defective synthesis of melanin from tyrosine or its deficiency which causes one or more related gene mutation that results in albinism. Those mutations cause the decrease or lack of melanin in different body parts, especially the hair, eyes, and skin. Albinism affects all races, but unevenly. Globally, its prevalence is approximately 1 in every 20,000 individuals. It is an autosomal recessive disease, thus it affects equally males and females.
Objective: To determine the patterns of ocular findings in people with albinism in Bujumbura, Burundi
Study Design: A descriptive cross-sectional study will be adopted.
Study Population: All persons with albinism living in Bujumbura.
Method: Approval of the Burundi “Albinos without borders” association will be obtained and presented to the participants. With the help of the administration of the group, the participants will be contacted in advance to arrange for the examination. All participants present on the day of examination with the consent given will be recruited into the study. A research assistant will be recruited to help in collecting the data. Visual acuity, stereoacuity, orthoptic assessment, amsler grid test, anterior segment, posterior segment and refraction will be performed for every participant. Registration of each participant and findings will be recorded in individual questionnaires. Any known history and complaints that are related to an ocular problem will also be noted.
Data Management and Analysis:The principal Investigator will enter data using SPSS (Version 23). Data for every subject will be analyzed descriptively by use of modes, percentages, and standard deviations. The correlation between measures will be defined based on cross-tabulations and chi-square analysis. Significance levels will be established at p = 0.05 for all statistical determinations.
