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Gene: SLC4A11

Red List (low evidence)

CHED2 is often present at birth or within the first 6 months, but the age of onset, disease progression, and degree of visual impairment can be variable. Corneal edema and opacification present at birth or shortly thereafter. The degree of opacification varies from mild to severe.
Corneal endothelial dystrophy and perceptive deafness is also known as Harboyan syndrome. Sensorineural hearing loss usually develops later (1st to 3rd decade, PMID: 17220209).
Both conditions 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. Inter- and intra-familial variability is observed.
SLC4A11 mutations identified in patients with CHED2 patients and patients with Harboyan syndrome patients are very similar and it is not clear why some cause only corneal defects and others corneal and auditory defects. However, it is clear that of the two cell types, corneal endothelial cells are more vulnerable to defects in the functional activity of SLC4A11 than cells of the striae vascularis of the inner ear (PMID: 20118786).
Treated with corneal transplant.

Created: 2 Jan 2025, 1:39 a.m. | Last Modified: 2 Jan 2025, 1:39 a.m.

Panel Version: 1.984

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Corneal endothelial dystrophy and perceptive deafness, MIM #217400 (CDPD); Corneal endothelial dystrophy, autosomal recessive, MIM#217700 (CHED2)

Publications

• PMID: 20118786
• 21203343
• 26451371
• 17220209
• 32884076

Red List (low evidence)

Significant visual impairment unlikely with treatment.

Created: 26 Aug 2022, 6:19 a.m. | Last Modified: 26 Aug 2022, 6:19 a.m.

Panel Version: 0.160

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Corneal endothelial dystrophy, autosomal recessive, MIM# 217700

I don't know

Well established gene-disease association. Inter- and intra-familial variability and no genotype-phenotype correlation
Sources: Literature

Created: 26 Jul 2022, 3:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268; Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Corneal endothelial dystrophy, autosomal recessive, MIM# 217700

Publications

• 26451371
• 20118786
• 21203343