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
Harboyan G, Mamo J, Der Kaloustian VM, et al: Congenital corneal dystrophy,
progressive sensorineural deafness in a family. Arch Ophthamol