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Harboyan syndrome: family case

Poster Details

First Author: H.Nazim Youcef ALGERIA

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Abstract Details


Harboyan syndrome is an oculo auditory disease consisting of congenital hereditary endothelial dystrophy associated with progressive sensorineural hearing loss.The condition is caused by mutations in the SLC4A11 gene located on chromosome 20p13, this allelic disorder is also found in congenital hereditary endothelial dystrophy (CHED2).The treatment is based on corneal transplantation ; penetrating or endothelial keratoplasty


CHU Hussein-Dey, Nafissa Hamoud Hospital (Algiers, Algeria)


We present the cases of 2 patients (a women and her brother) aged 42 and 36 respectively , they are 2 of 10 sibs , no consanguineous mating has been reported , and all members of the family underwent a clinical examination .


Concerning the ocular manifestations , the onset of disorders can be traced back to early childhood marked by a progressive decrease in visual acuity leading to bilateral horizontal nystagmus .Slit lamp examination revealed an opaque cornea related to endothelial dystrophy When to hearing deficit , a progressive deafness appeared after the acquisition of speech. Penetrating Keratoplastie has been performed in the two cases.


Major features of Harboyan syndrome include autosomal recessive inheritance , congenital dystrophy with slow progression ; and childhood onset of slowly progressive sensorineural hearing loss.

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