Congenital Corneal Dystrophy

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

“…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.…”

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

“…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.…”

Harboyan Syndrome: A Novel SLC4A11 Variant With Unique Genotype–Phenotype Correlation

“…1 The association of congenital autosomal recessive CHED with bilateral progressive sensorineural hearing loss is known as Harboyan syndrome (OMIM #217400). 2 Solute carrier family 4 member 11 (SLC4A11) homozygous and compound heterozygous gene mutations have been identified in Harboyan syndrome and in 76% of CHED pedigrees. 1,3 SLC4A11 gene encodes the sodium-borate cotransporter (NaBC1) expressed in various organs, including corneal endothelium, inner ear, and kidney.…”

Rehabilitation with Cochlear Implant in Patient with Harboyan Syndrome

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

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

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

“…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.…”

Harboyan Syndrome: A Novel SLC4A11 Variant With Unique Genotype–Phenotype Correlation

“…1 The association of congenital autosomal recessive CHED with bilateral progressive sensorineural hearing loss is known as Harboyan syndrome (OMIM #217400). 2 Solute carrier family 4 member 11 (SLC4A11) homozygous and compound heterozygous gene mutations have been identified in Harboyan syndrome and in 76% of CHED pedigrees. 1,3 SLC4A11 gene encodes the sodium-borate cotransporter (NaBC1) expressed in various organs, including corneal endothelium, inner ear, and kidney.…”

Rehabilitation with Cochlear Implant in Patient with Harboyan Syndrome

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

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

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

“…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.…”

Harboyan Syndrome: A Novel SLC4A11 Variant With Unique Genotype–Phenotype Correlation

“…1 The association of congenital autosomal recessive CHED with bilateral progressive sensorineural hearing loss is known as Harboyan syndrome (OMIM #217400). 2 Solute carrier family 4 member 11 (SLC4A11) homozygous and compound heterozygous gene mutations have been identified in Harboyan syndrome and in 76% of CHED pedigrees. 1,3 SLC4A11 gene encodes the sodium-borate cotransporter (NaBC1) expressed in various organs, including corneal endothelium, inner ear, and kidney.…”

Rehabilitation with Cochlear Implant in Patient with Harboyan Syndrome

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

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