Une anomalie oculaire autosomique récessive particulière à chahar borj (République islamique d'Iran)

Translated title of the contribution: A distinct autosomal recessive ocular anomaly in Chaharborj, Islamic Republic of iran

H. Khakshoor, R. Daneshvar, T. Banaee, S. A. Tabatabaee Yazdi, M. Hasanzadeh Nazarabadi, M. Moosavi, F. Tavassoli, R. Mahdavi

Research output: Contribution to journalArticlepeer-review

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.

Translated title of the contributionA distinct autosomal recessive ocular anomaly in Chaharborj, Islamic Republic of iran
Original languageFrench
Pages (from-to)25-30
Number of pages6
JournalEastern Mediterranean Health Journal
Volume18
Issue number1
DOIs
StatePublished - Jan 2012
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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