Publications by authors named "Olubayo Kolawole"
Article Synopsis
- The study addresses the challenges of diagnosing inherited retinal diseases linked to the ABCA4 gene, focusing on the significant number of variants of uncertain significance (VUS).
- Researchers analyzed 64 subjects with inherited retinal dystrophy to assess the pathogenicity of ABCA4 gene variants using genetic databases and structural modeling.
- The findings revealed 52 subjects with conclusive pathogenic variants, identified 14 novel variants, and determined that 8 of them were disease-causing or likely disease-causing, enhancing understanding of ABCA4 variant impact on retinal diseases.
Purpose: Autosomal recessive cone and cone-rod dystrophies (CD/CRD) are inherited forms of vison loss. Here, we report on and correlate the clinical phenotypes with the underlying genetic mutations.
Methods: Clinical information was collected from subjects, including a family history with a chart review.
Objective: To evaluate the success of diagnostic genetic testing in inherited retinal dystrophy (IRD) patients in the clinical setting.
Design: Retrospective cohort analysis.
Participants: A total of 446 consecutive participants from diverse ethnic backgrounds living in western Canada.
Cataract blindness in Osun state, Nigeria: results of a survey.
Middle East Afr J Ophthalmol
October 2012
Purpose: To estimate the burden of blindness and visual impairment due to cataract in Egbedore Local Government Area of Osun State, Nigeria.
Materials And Methods: Twenty clusters of 60 individuals who were 50 years or older were selected by systematic random sampling from the entire community. A total of 1,183 persons were examined.