++
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]