Author(s):
1. Hafiz Muhammad Azhar Baig:
Department of Biochemistry. IBBB, The Islamia University of Bahawalpur, Bahawalpur, Pakistan
2. Muhammad Iqbal:
Department of Biochemistry. IBBB, The Islamia University of Bahawalpur, Bahawalpur, Pakistan
Abstract:
Vision impairment (VI) is a general term which refers to abnormalities in visual process through structural and functional modifications in the eye. It mainly includes low vision and blindness. Many factors are responsible for this abnormality. Genetics is one of the key players to play role in VI. Mutations in many genes have been reported to cause vision impairment. Pakistani population being highly consanguineous is an excellent population to study the genetic disorders including VI. Consanguineous marriages are practiced at a very high rate in Southern Punjab region of Pakistan. Genetic landscape studies of VI from Southern Punjab show the affected population of Southern Punjab to be highly versatile in both, genotypic and phenotypic manners. This study will help the geneticists to establish a panel sequencing approach to genetically diagnose the affected individuals of VI. Early and accurate genetic diagnosis of the disease will help the clinicians to understand the diseases which ultimately help in better management of the disease.
Page(s):
115-115
DOI:
DOI not available
Published:
Journal: Abstract Book on Global Science Technology and Management Conference, Volume: 0, Issue: 0, Year: 2023
Keywords:
Vision impairment
,
Genetic Landscape
References:
References are not available for this document.
Citations
Citations are not available for this document.