SR3570
Enhanced S-Cone Syndrome (IA2fiv)
Male
Male
SR3570
Enhanced S-Cone Syndrome (IA2fiv)
Male
Male
History
This 16 year old male first noticed difficulty reading the board in school when he was 12 years old. He has always had poor night vision and clearly recounts an episode of running into a closet door in the dark when he was six years old.
Pedigree
| Age at visit: 16 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Enhanced S-Cone Syndrome | NR2E3 | IVS1-2 A>C | Cys103Stop TGC>TGA | AR |
Disease:
Gene:
Allele 1:
IVS1-2 A>C
Allele 2:
Cys103Stop TGC>TGA
Inheritance:
AR