title: A distinct autosomal recessive ocular anomaly in Chaharborj, Islamic Republic of Iran.
abstract: In Chaharborj, a village in north-eastern ofthe 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.
authors.affiliation: Khatam Anbia Eye Hospital, Eye Research Center of Mashhad University of Medical Sciences, Mashhad, Islamic Republic of Iran.
authors.forename: H
authors.initials: H
authors.lastname: Khakshoor
authors.forename: R
authors.initials: R
authors.lastname: Daneshvar
authors.forename: T
authors.initials: T
authors.lastname: Banaee
authors.forename: S A
authors.initials: SA
authors.lastname: Tabatabaee Yazdi
authors.forename: M
authors.initials: M
authors.lastname: Hasanzadeh Nazarabadi
authors.forename: M
authors.initials: M
authors.lastname: Moosavi
authors.forename: F
authors.initials: F
authors.lastname: Tavassoli
authors.forename: R
authors.initials: R
authors.lastname: Mahdavi
mesh_terms: D000293:Adolescent; D000328:Adult; D000869:Anterior Eye Segment / Q000002:abnormalities* / Q000473:pathology; D001766:Blindness / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007492:Iran; D008297:Male; D057972:Posterior Eye Segment / Q000002:abnormalities / Q000473:pathology; D012163:Retinal Detachment / Q000151:congenital* / Q000235:genetics / Q000473:pathology