SR1939

Best Disease (IIB)

Male

Male

SR1939

Best Disease (IIB)

Male

Male

Highlighted Images

Age at visit: 78 years
OD OS

History

This 54 year old man has a son with bilateral macular lesions.

Pedigree

Age at visit: 50 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 75 years
Age at visit: 76 years
Age at visit: 78 years
Age at visit: 79 years
Age at visit: 80 years
Age at visit: 81 years
Age at visit: 83 years
Age at visit: 84 years
Age at visit: 85+ (Visit 1)
Age at visit: 85+ (Visit 2)
Age at visit: 85+ (Visit 3)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Tyr227Asn TAC>AAC   AD
Disease:
Gene:
Allele 1:
Tyr227Asn TAC>AAC
Allele 2:
 
Inheritance:
AD
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