SR879

Occult Macular Dystrophy (IIE)

Male

Male

SR879

Occult Macular Dystrophy (IIE)

Male

Male

Highlighted Images

Age at visit: 36 years
OD OS

History

This 36 year old man had normal vision until age 25, at which time he noticed a decreased acuity in his left eye. As time passed, he developed similar symptoms in the right eye. The patient has a male cousin on his maternal side who had a decreased vision in infancy.

Pedigree

Age at visit: 36 years
Age at visit: 37 years
Age at visit: 37 years (Visit 2)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Occult Macular Dystrophy RP1L1 Arg45Trp CGG>TGG   AD
Gene:
Allele 1:
Arg45Trp CGG>TGG
Allele 2:
 
Inheritance:
AD
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