MATERNAL CONSANGUINITY: THE MOST PROBABLE CAUSATIVE FACTOR OF GENETIC EYE DISORDERS

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

Abstract


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.

Keywords


Consanguinity; Genetics; Microphthalmos; Data collection

Full Text:

PDF

References


Graw J. The genetic and molecular basis of congenital eye defects. Nat Rev Genet 2003;4:876-88.

Pascolini D, Mariotti SP. Global estimates of visual impairment: 2010. Br J Ophthalmol 2012;96:614-8.

Resnikoff S, Pascolini D, Etya’ale D, Kocur I, Pararajasegaram R, Pokharel GP, et al. Global data on visual impairment in the year 2002. Bull World Health Organ 2004;82: 844-51.

Rein DB, Zhang P, Wirth KE, Lee PP, Hoerger TJ, McCall N,et al. The economic burden of major adult visual disorders in the United States. Arch Ophthalmol 2006;124:1754-60.

Pizzarello L, Abiose A, Ffytche T, Duerksen R, Thulasiraj R, Taylor H, et al. VISION 2020: The Right to Sight: a global initiative to eliminate avoidable blindness. Arch Ophthalmol 2004;122:615-20.

Shawkya RM, Elsayed SM, Zaki ME, Nour El-Din SM, Kamal FM. Consanguinity and its relevance to clinical genetics. Egypt J Med Hum Genet 2013;14:157-64.

Hurst JA. Genetics of blindness. Br J Hosp Med 1992;47:495-500.

Jadoon MZ, Dineen B, Bourne RR, Shah SP, Khan MA, Johnson GJ, et al. Prevalence of blindness and visual impairment in Pakistan: the Pakistan National Blindness and Visual Impairment Survey. Invest Ophthalmol Vis Sci 2006;47:4749-55.

Gilbert CE, Shah SP, Jadoon MZ, Bourne R, Dineen B, Khan MA, et al. Pakistan National Eye Survey Study Group. Poverty and blindness in Pakistan: results from the Pakistan National Blindness and Visual Impairment Survey. BMJ 2008;336:29-32.

SPSS for Windows, version 16.0, rel. 2008. Chicago, IL: SPSS Inc.

Dan-ning HU. Prevalence and mode of inheritance of major genetic eye diseases in China. J Med Genetics 1987;24:584-8.


Refbacks

  • There are currently no refbacks.


Copyright (c) 2020 Nasir Ali, Zahid Rauf, Muhammad Ayaz Khan, Muhammad Akhlaq, Ghulam Mustafa, Muzammil Ahmad Khan

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.