SR1887

Occult Macular Dystrophy (IIE)

Male

Male

SR1887

Occult Macular Dystrophy (IIE)

Male

Male

Highlighted Images

Age at visit: 12 years
OD OS

History

This 12 year old boy first had difficulty with his acuity at age 9 when he had difficulty seeing the target during archery class. One year later he failed a vision screen at this pediatrician. He denies sun gazing and playing laser pointers. He has no difficulty with color vision, no night blindness and no photophobia.

Pedigree

Age at visit: 12 years

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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