MICROPHTHALMIA: AN IMPORTANT GENETIC EYE DISORDER

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 fami...

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Bibliographic Details
Main Author: Muzammil Ahmad Khan
Format: Article
Language:English
Published: Gomal Medical College, D.I.Khan, Pakistan 2017-01-01
Series:Gomal Journal of Medical Sciences
Subjects:
Online Access:http://gjms.com.pk/ojs24/index.php/gjms/article/view/1533
Description
Summary: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.
ISSN:1819-7973
1997-2067