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TitreHarboyan Syndrome due to Novel Mutations in the Borate Transporter Gene SLC4A11
ButTo describe a patient with Harboyan syndrome, a combination of congenital hereditary endothelial dystrophy (CHED) and perceptive hearing loss, who is compound heterozygous for two novel mutations in the SLC4A11 gene.
MéthodesA 25-year old man presented with bilateral corneal clouding and nystagmus at birth. He also suffered from sensorineural hearing loss. He underwent a full ophthalmological, ENT and systemic work-up.
RésultatsBilateral corneal clouding and nystagmus was noted at birth. He was operated (goniotomy)for congenital glaucoma at the age of 14 as the diagnosis of CHED was delayed. Hearing loss was first noticed at the age of 5 by routine screening. Extensive blood and urine analyses were unremarkable.
BCVA was 1/10 in the right eye and counting fingers in the left. Slit lamp examination revealed a diffusely oedematous stroma with marked thickening more pronounced in the left eye than in the right. Small, localized areas of confluent endothelial bullae could be observed in both eyes. The anterior chamber and lens were unremarkable. Fundoscopy showed no gross abnormalities of the posterior pole and retinal periphery. An ERG performed at birth was normal.
DNA analysis confirmed the clinical diagnosis of Harboyan syndrome and revealed compound heterozygosity for two novel mutations in the SLC4A11 gene (c.427G>A & c.453-454insTG).
ConclusionA patient with Harboyan syndrome due to compound heterozygosity for two novel mutations in the SLC4A11 gene is described, increasing the total number of mutations and confirming the role of this gene in the pathogenesis of this rare disorder.
Auteur 1
NomDE ZAEYTIJD
InitialesJ
InstitutUZ
VilleGent
Auteur 2
NomVITHANA
InitialesE
InstitutSingapore Eye Research Institute
VilleSingapore
Auteur 3
NomMEIRE
InitialesF
InstitutQueen Fabiola Children's UZ
VilleBrussel
Auteur 4
NomRAEMDONCK
InitialesT
InstitutUZ
VilleGent
Auteur 5
NomCLAERHOUT
InitialesI
InstitutUZ
VilleGent
Auteur 6
NomDE BAERE
InitialesE
InstitutUZ
VilleGent
Auteur 7
NomKESTELYN
InitialesP
InstitutUZ
VilleGent
Auteur 8
NomLEROY
InitialesBP
InstitutUZ
VilleGent
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