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