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