| Autor: |
Damji, Karim F., Sohocki, Melanie M., Khan, Ravesh, Gupta, Sanjoy K., Rahim, Musa, Loyer, Magali, Hussein, Naushad, Karim, Nermin, Ladak, Shenif S., Jamal, Alnoor, Bulman, Dennis, Koenekoop, Robert K. |
| Zdroj: |
Canadian Journal of Ophthalmology; August 2001, Vol. 36 Issue: 5 p252-259, 8p |
| Abstrakt: |
Background:Leber's congenital amaurosis (LCA) represents the earliest and severest form of retinal dystrophy leading to congenital blindness. A total of 20% of children attending blind schools have this disease. LCA has a multigenic basis and is proving central to our understanding of the development of the retina. We describe the clinical and molecular genetic features of four inbred pedigrees from neighbouring remote villages in northern Pakistan, in which some of the affected members have concurrent keratoconus. |
| Databáze: |
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