Congenital Corneal Dystrophy

Harboyan, Garbis; Mamo, Jubran G.; Kaloustian, Vazken Der; Karam, F

doi:10.1001/archopht.1971.00990050029005

Cited by 37 publications

(6 citation statements)

References 9 publications

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“…14 The sensorineural deafness associated with Harboyan syndrome may only become fulminant in the second decade of life. 2 Hence, genetic testing of suspected patients with CHED2 may be predicative of subsequent hearing defects in patients. It is inevitable that investigation of temporal changes in phenotype associated with mutations in patients with the newly identified SLAC4A11 gene will initially use retrospective data.…”

Section: Discussionmentioning

confidence: 99%

Absence of Phenotype-Genotype Correlation of Patients Expressing Mutations in the SLC4A11 Gene

Hemadevi¹,

Vithana²,

Arunkumar³

et al. 2010

Cornea

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Corneal endothelial cells are more vulnerable to defects in the functional activity of SLC4A11 than cells of the striae vascularis of the inner ear. Both congenital hereditary endothelial dystrophy 2 and Harboyan syndrome have similar ocular phenotypes, ie, diffuse bilateral corneal edema present at birth or within the neonatal period; hence, audiometry must be performed to differentiate the two conditions.

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Section: Discussionmentioning

confidence: 99%

Absence of Phenotype-Genotype Correlation of Patients Expressing Mutations in the SLC4A11 Gene

Hemadevi¹,

Vithana²,

Arunkumar³

et al. 2010

Cornea

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“…Later, it was shown that SLC4A11 mediates the flux of Na ϩ and OH Ϫ into cells, although SLC4A11 can also mediate Na ϩ /borate cotransport in the presence of borate (6). Mutations in SLC4A11 are associated with autosomal recessive corneal endothelial dystrophy (CHED2) (7,8) and are also found in the Harboyen syndrome (9), a congenital corneal endothelial dystrophy associated with progressive perceptive deafness (10). It has been speculated that endothelial dystrophy and hearing loss result from improper proliferation during fetal development caused by borate-dependent effects on cell proliferation mediated via a mitogen-activated protein kinase (MAPK) pathway or by fluid imbalance in the inner ear (7).…”

mentioning

confidence: 99%

SLC4A11 Prevents Osmotic Imbalance Leading to Corneal Endothelial Dystrophy, Deafness, and Polyuria

Gröger

Fröhlich

Maier

et al. 2010

Journal of Biological Chemistry

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Maintenance of ion concentration gradients is essential for the function of many organs, including the kidney, the cornea, and the inner ear. Ion concentrations and fluid content in the cornea are regulated by endothelial cells that separate the collagenous avascular corneal stroma from the anterior eye chamber. Failure to maintain correct ion concentrations leads to swelling and destruction of the cornea. In the inner ear, the stria vascularis is responsible for generating proper ion concentrations in the endolymph, which is essential for hearing. Mutations of SLC4A11 in humans lead to syndromes associated with corneal dystrophy and perceptive deafness. The molecular mechanisms underlying these symptoms are poorly understood, impeding therapeutic interventions. The ion transporter SLC4A11 mediates sodium-dependent transport of borate as well as flux of sodium and hydroxyl ions in vitro. Here, we show that SLC4A11 is expressed in the endothelial cells of the cornea where it prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, SLC4A11 is located in fibrocytes underlying the stria vascularis. Loss of SLC4A11 leads to morphological changes in the fibrocytes and deafness. We demonstrate that SLC4A11 is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, SLC4A11 is expressed in the thin descending limb of Henle loop. SLC4A11 is essential for urinary concentration, suggesting that SLC4A11 participates in the countercurrent multiplication that concentrates urine in the kidney medulla.

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“…The latter is a rare inherited disease manifested by eye lesions and progressive sensorineural hearing loss. 1 2 …”

Section: Review Of the Literaturementioning

confidence: 99%

“…It is a hereditary disease manifested by eye lesions consistent with corneal endothelial dystrophy and progressive sensorineural hearing loss. 1 …”

Section: Introductionmentioning

confidence: 99%

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Rehabilitation with Cochlear Implant in Patient with Harboyan Syndrome

Paniagua

Dorfman

Lavinsky

et al. 2013

Int. Arch. Otorhinolaryngol.

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Background Harboyan syndrome, defined as congenital corneal dystrophy associated with progressive sensorineural hearing loss, was first described by Harboyan in 1971. It is a hereditary disease manifested by eye lesions consistent with corneal endothelial dystrophy and progressive sensorineural hearing loss. There is bilateral symmetric progressive hearing loss, which may be either dominant or recessive. Objective To report a case of a patient with a diagnosis of Harboyan syndrome. Case Report A 25-year-old woman with profound bilateral sensorineural hearing loss, showing poor hearing performance while using a personal sound amplification device, underwent hearing rehabilitation with a cochlear implant. Conclusion Rehabilitation was imperative in this case. The cochlear implant has proven to be the best therapeutic option, providing the patient with a better quality of life.

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Congenital Corneal Dystrophy

Cited by 37 publications

References 9 publications

Absence of Phenotype-Genotype Correlation of Patients Expressing Mutations in the SLC4A11 Gene

Absence of Phenotype-Genotype Correlation of Patients Expressing Mutations in the SLC4A11 Gene

SLC4A11 Prevents Osmotic Imbalance Leading to Corneal Endothelial Dystrophy, Deafness, and Polyuria

Rehabilitation with Cochlear Implant in Patient with Harboyan Syndrome

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