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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 293603
Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground- glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.
Prevalence of this form of corneal dystrophy is unknown. Most cases have been identified in children of consanguineous parents from Saudi Arabia, India, Pakistan, Myanmar (Burma) and Ireland.
Diffuse ground glass lesions are present from birth and are accompanied by nystagmus. Tearing and photophobia are minimal or absent. The course is relatively stable. Patients also occasionally have sensorineural deafness. The cornea is swollen due to extensive stromal edema.
Most cases are caused by homozygous mutations in the SLC4A11 gene. A high degree of mutational heterogeneity has been detected and genetic heterogeneity may exist as no mutations in SLC4A11 or in its promoter region have been detected in some affected families. In CHED II, an increased tendency for the abnormal endothelium to synthesize a homogenous, posterior, non-banded Descemet membrane is observed.
Transmission appears to be autosomal recessive.
Management and treatment
Patients with CHED II usually require a penetrating keratoplasty. Procedures for repairing the posterior surface of the cornea, such as a deep lamellar endothelial keratoplasty (DLEK), Descemet stripping endothelial keratoplasty (DSEK), or Descemet stripping automated endothelial keratoplasty (DSAEK) are technically difficult in young children.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Most cases of corneal endothelial dystrophy type 2 are caused by homozygous mutations in the SLC4A11 gene. The condition is transmitted in an autosomal recessive manner. This means that two unaffected parents each carry one copy of a gene mutation for the condition. Neither parent will show signs or symptoms of the condition because two copies are needed for the condition to occur. There have been several families with corneal endothelial dystrophy type 2 where no mutation was found in the SLC4A11 gene. To find laboratories offering genetic testing to confirm a diagnosis, please visit the Tests and Diagnosis section of the Web site. http://rarediseases.info.nih.gov/gard/6196/ched2/resources/12
Last updated on 05-01-20
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