Nasir Ali, Zahid Rauf, Muhammad Ayaz Khan, Muhammad Akhlaq, Ghulam Mustafa, Muzammil Ahmad Khan


Background: The consanguineous relation between parents could be either maternal or paternal. The objectives of the study were to determine the frequency distribution by type of genetic eye disorders & demographics.
Material & Methods: This cross-sectional study was conducted in Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, Pakistan from June 2014 to September 2014. A sample of 152 cases was selected by consecutive technique. All the children having a congenital eye disorder in one or both eyes were eligible for inclusion in the study. The clinical data and related information was recorded on a structured Performas. Data collection site was Tehsil Kabal, District Swat. Demographic variables were gender, and consanguinity. Research variable was frequency distribution of genetic eye disorders. All data being nominal was analyzed by frequency and relative frequency.
Results: Out of 152 cases, 78(51.3%) were males and 74 (48.7%) females. The strabismus was observed in 42 (27.6%) patients, cataract in 39 (25.6%), extreme myopia in 32(21.1%), microphthalmia in 13(8.5%), anophthalmia in eight (5.3%), astigmatism in nine(5.9%) and nystagmus in six(3.9%) patients, while keratoconus, glaucoma and retinitis pigmentosa were in single (0.7%) patient each. Out of 42 cases with strabismus, 24 were with maternal and 18 were with paternal consanguinity. Out of 39 cases with cataract, 22 were with maternal and 17 were with paternal consanguinity. Out of 32 cases with extreme myopia, 21 were with maternal and 11 were with paternal consanguinity. Ninety two patients were having maternal and 60 paternal consanguinity.
Conclusion: Strabismus was the most frequent genetic eye disorder in Tehsil Kabal. Maternal consanguinity was the most commonly associated factor with genetic eye disorders. It is suggested that the people should prefer non-consanguineous marriages.


Consanguinity; Genetics; Microphthalmos; Data collection

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