Posters

Concurrent macular dystrophy with retinitis pigmentosa in 3 member of a family: a case report

Poster Details

First Author: F. Nejat IRAN, ISLAMIC REPUBLIC OF

Co Author(s):    K. Jadidi   H. Aghamollaei   S. Pirhadi   E. Golchin   M. Nejat        

Abstract Details

Purpose:

a rare case of macular corneal dystrophy (MCD) in association with Retinitis Pigmentosa (RP) in 3 members of a family.

Setting:

Bina Eye Hospital , Tehran, Iran

Methods:

A 9-members family with 2 girls and 5boys referred to Bina Eye Hospital is reported. Diagnostic procedures were performed for all patients

Results:

Both parents, one of the girls and one of the boys have normal eye vision and another boy has keratoconus. The clinical diagnosis showed concurrent MCD and RP in 3 children (1 girl and 2 boys).

Conclusions:

Based on family tree it seems that the inheritance of the both disease is autosomal recessive. Molecular genetic investigation is needed to clarify the mechanism of MCD and RP concurrent

Financial Disclosure:

NONE