Author/Authors :
Khakshoor, H. mashhad university of medical sciences - Khatam Anbia Eye Hospital, Eye Research Center of Mashhad, ايران , Daneshvar, R. mashhad university of medical sciences - Khatam Al-Anbia Eye Hospital, Eye Research Centre - Department of Ophthalmology, ايران , Banaee, T. mashhad university of medical sciences - Khatam Anbia Eye Hospital, Eye Research Center of Mashhad, ايران , Tabatabaee Yazdi, S.A. mashhad university of medical sciences - Ghaem Hospital, ايران , Hasanzadeh Nazarabadi, M. mashhad university of medical sciences - Department of Medical Genetics, ايران , Moosavi, M. mashhad university of medical sciences - Khatam Anbia Eye Hospital, Eye Research Center of Mashhad, ايران , Tavassoli, F. mashhad university of medical sciences - Imam Reza Hospital, ايران , Mahdavi, R. mashhad university of medical sciences - Imam Reza Hospital, ايران
Abstract :
In Chaharborj, a village in north-eastern of the Islamic Republic of Iran, a high prevalence of congenital blindness (1.1%) has been reported. The clinical findings have not been fully described. We therefore assessed the clinical aspects of this condition in a case series of 20 congenitally blind patients and 24 of their parents. All patients had been blind since birth. There was anterior segment dysgenesis and retinal non-attachment in all patients. There were no systemic anomalies. Histopathologically, there was iridocorneal adhesion, normal angle structure and retinal dysplasia. No significant difference was found in the frequency of different HLA class I alleles compared with the general population. The anomaly causing congenital blindness in these patients has components of both anterior and posterior segment dysgenesis. It appears to be a distinct entity with an autosomal recessive pattern of inheritance.
