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A distinct autosomal recessive ocular anomaly in Chaharborj, Islamic Republic of Iran

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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 congenially 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
Citation
Khakshoor, H., Daneshvar, R., Banoee, T., Yazdi, S.A. Tabatabaee, Nazarabadi M. Hasanzadeh. et al. (‎2012)‎. A distinct autosomal recessive ocular anomaly in Chaharborj, Islamic Republic of Iran. EMHJ - Eastern Mediterranean Health Journal, 18 (‎1)‎, 24-30, 2012 https://apps.who.int/iris/handle/10665/118241
Journal
EMHJ - Eastern Mediterranean Health Journal, 18 (‎1)‎, 24-30, 2012
Description
24-30
ISSN
1020-3397
Other Identifiers
http://applications.emro.who.int/emhj/V18/01/18_1_2012_0024_0030.pdf
Language
English
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