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Phenotype analysis, molecular genetics and therapeutics of glaucoma: Recent developments and future directions with respect to Pakistan

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Research Paper 01/02/2018
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Phenotype analysis, molecular genetics and therapeutics of glaucoma: Recent developments and future directions with respect to Pakistan

Muhammad Usman, Muhammad Ali, Qaisar Hanif, Muhammad Qasim, Muhammad Ibrahim Rajoka, Muhammad Rashid, Zulqarnain Manzoor, Omer Draz, Tehreem Anwar, Mirza Jawad ul Hasnain
Int. J. Biosci.12( 2), 345-356, February 2018.
Certificate: IJB 2018 [Generate Certificate]
Key: BlindnessEye diseaseGenetic diseaseGlaucomaOptical nerves

Abstract

Blindness is a major disability that severely compromises the life quality and makes the individuals unfit for every job. Genetic factors play key role in many types of eye disorders, involving those disorders that are the key reason of blindness amongst infants, children and adults. Glaucoma is a main source of sight loss not only sight and is categorized by enlightened deterioration of the optical nerve and is usually connected with higher intraocular pressure. Without adequate dealing, glaucoma can be developed to optical disability and ultimately sightlessness. Scientists had determined and mapped several genes for glaucoma. Pakistani population is relatively least investigating for genetic diseases as compare to European population. Because of the high degree of consanguinity Pakistani population offers a priceless genetic resource for identifying new genomic regions and to fill gaps in the existing knowledge. In this review, we provide detailed description of genetic and phenotypic heterogeneity of glaucoma disease with respect to Pakistan and also we shed some light on current therapeutic approaches and future directions. Furthermore, we identified 10 consanguineous glaucomatous families of Pakistan with multiple affected individuals and performed their clinical evaluation for better understanding of disease.

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