DR. LAKSHMI SHANMUGAVELU

Dr. RAVEENDRA T.

Abstract

A 35 year old man came to ophthalmology OPD with bilateral gradual diminution of vision since 3-4 months associated with dull headache.

ODDD is although a rare genetic disease but it is a potentially blinding condition, so early assessment of glaucoma is must. Apart from ophthalmological assessment, multispecialty approach to screen cardiological and neurological status should be done on regular basis. Also regular oral hygiene with timely dental treatment depending on age need to be advised. Orthopedic correction of skeletal abnormalities are other treatment modalities that can be offered to the patient for better cosmesis and prevention of functional morbidity.

ODDD occurs typically due to mutation in GJA1 gene located on human chromosome 6q22-q23, encoding Connexin43 (Cx43); this mutation was found by genetic testing.