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

Corneal Dystrophy Perceptive Deafness.

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

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

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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