SR2550

Wolfram Syndrome (IIIC2a)

Male

Male

SR2550

Wolfram Syndrome (IIIC2a)

Male

Male

Highlighted Images

Age at visit: 26 years
OD OS

History

This 26 year old man had significant myopia since childhood and uncorrectable reduction of acuity since his mid teens. Optic nerve abnormalities were noticed on a routine exam at age 5 and a diagnosis of Retinitis Pigmentosa was suggested. His medical history is also positive for profound hearing loss at birth and type 1 diabetes mellitus.

Pedigree

Age at visit: 26 years
Age at visit: 29 years
Age at visit: 30 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Wolfram Syndrome WFS1 Ala684Val GCG>GTG   AD
Disease:
Gene:
Allele 1:
Ala684Val GCG>GTG
Allele 2:
 
Inheritance:
AD
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