تلخیص
This young boy, 14 years of age, from tehsil Paroa, district Dera Ismail Khan is a case of bilateral microphthalmia with bilateral opaque corneae . The disease onset was congenital. The patient had no history of deafness and was mentally stable. The patient belongs to an extended consanguineous family with 7 affected individuals presenting the same clinical phenotype. Pedigree analysis indicated that disease is segregated in autosomal recessive fashion. The parents of all affected individuals are asymptomatic.
Muzammil Ahmad Khan. (2016) MICROPHTHALMIA: AN IMPORTANT GENETIC EYE DISORDER, Gomal Journal of Medical Sciences , Volume 14, Issue 3.
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