SR218

XL Cone and Cone Rod Dystrophy (IA1bi)

Male

Male

SR218

XL Cone and Cone Rod Dystrophy (IA1bi)

Male

Male

Highlighted Images

Age at visit: 39 years
OD OS

History

This 39 year old man was found to be color blind in the 5th grade, but he had good acuity until a few months ago.

Pedigree

Age at visit: 39 years
Age at visit: 40 years
Age at visit: 41 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 43 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 44 years
Age at visit: 45 years
Age at visit: 46 years
Age at visit: 47 years
Age at visit: 48 years
Age at visit: 49 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Cone and Cone Rod Dystrophy RPGR Glu1031 del2gaGG   XL
Gene:
Allele 1:
Glu1031 del2gaGG
Allele 2:
 
Inheritance:
XL
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