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Very rare condition characterized by corneal opacities present at birth and later-onset deafness.

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Corneal Dystrophy Perceptive Deafness.

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Very rare; autosomal recessive inheritance. Gene located on 20p13.

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Features involve eyes (corneal clouding or opacity, abnormal corneal structure, severe visual loss, glaucoma, buphthalmos). Sensory neural deafness also occurs but later in age.

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Avoid ototoxic drugs. Eye care protection is necessary because of buphthalmos. Medications that might increase eye pressure, such as atropine, succinylcholine, and ketamine, should be avoided.

Abramowicz MJ, Albuquerque-Silva J, Zanen A: Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13. J Med Genet 39:110, 2002.  [PubMed: 11836359]
Harboyan G, Mamo J, Der Kaloustian VM, et al: Congenital corneal dystrophy, progressive sensorineural deafness in a family. Arch Ophthamol 85:27, 1971.  [PubMed: 5312820]

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