Dataset Information

Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13.

ABSTRACT: The association of congenital corneal dystrophy with teenage onset perceptive hearing loss (Harboyan syndrome) has been reported in two sibships, one with consanguineous parents, which were consistent with autosomal recessive transmission. We have observed a Moroccan sibship where four girls and one boy were affected with this rare syndrome. The parents were first cousins once removed and unaffected. Genome wide homozygosity mapping using 386 microsatellite markers linked the locus to 20p13. A maximum multipoint lod score of 4.20 was obtained at marker D20S179. The minimal critical region is 7.73 cM between markers D20S199 and D20S437. These results confirm the syndromic association of congenital corneal dystrophy and teenage onset hearing loss, and further increase the genetic heterogeneity of recessive deafness.

SUBMITTER: Abramowicz MJ

PROVIDER: S-EPMC1735049 | biostudies-other | 2002 Feb

REPOSITORIES: biostudies-other

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Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13.

Abramowicz M J MJ Albuquerque-Silva J J Zanen A A

Journal of medical genetics 20020201 2

The association of congenital corneal dystrophy with teenage onset perceptive hearing loss (Harboyan syndrome) has been reported in two sibships, one with consanguineous parents, which were consistent with autosomal recessive transmission. We have observed a Moroccan sibship where four girls and one boy were affected with this rare syndrome. The parents were first cousins once removed and unaffected. Genome wide homozygosity mapping using 386 microsatellite markers linked the locus to 20p13. A m ...[more]

PMID: 11836359

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Project description:Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED) accompanied by progressive, postlingual sensorineural hearing loss. To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, Dominican) have been reported. More than 50% of the reported cases have been associated with parental consanguinity. The ocular manifestations in Harboyan syndrome include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. They are apparent at birth or within the neonatal period and are indistinguishable from those characteristic of the autosomal recessive CHED (CHED2). Hearing deficit in Harboyan is slowly progressive and typically found in patients 10-25 years old. There are no reported cases with prelinglual deafness, however, a significant hearing loss in children as young as 4 years old has been detected by audiometry, suggesting that hearing may be affected earlier, even at birth. Harboyan syndrome is caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13-p12, indicating that CHED2 and Harboyan syndrome are allelic disorders. A total of 62 different SLC4A11 mutations have been reported in 98 families (92 CHED2 and 6 Harboyan). All reported cases have been consistent with autosomal recessive transmission. Diagnosis is based on clinical criteria, detailed ophthalmological assessment and audiometry. A molecular confirmation of the clinical diagnosis is feasible. A variety of genetic, metabolic, developmental and acquired diseases presenting with clouding of the cornea should be considered in the differential diagnosis (Peters anomaly, sclerocornea, limbal dermoids, congenital glaucoma). Audiometry must be performed to differentiate Harboyan syndrome from CHED2. Autosomal recessive types of CHED (CHED2 and Harboyan syndrome) should carefully be distinguished from the less severe autosomal dominant type CHED1. The ocular abnormalities in patients with Harboyan syndrome may be treated with topical hyperosmolar solutions. However, corneal transplantation (penetrating keratoplasty) represents definitive treatment. Corneal transplantation produces a substantial visual gain and has a relatively good surgical prognosis. Audiometric monitoring should be offered to all patients with CHED2. Hearing aids may be necessary in adolescence.

Dataset Information

Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13.

Publications

Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13.

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