Case
SR28
Student Mode
Enhanced S-Cone Syndrome (IA2fiv)
Male
Male
Hidden
SR28
Student Mode
Enhanced S-Cone Syndrome (IA2fiv)
Male
Male
History
This 23 year old man has had poor night vision OU and reduced acuity OD since at least his second year of life.
| Color Vision: | Correctly named 9/11 Ishihara plates OD and 10/11 OS. |
|---|---|
| Refraction OD: | -1.25 +1.50 x 90 |
| Refraction OS: | -1.50 +1.50 x 90 |
Pedigree
Teaching Points
The clinical features supporting the diagnosis of the enhanced S-cone syndrome (ESCS) in this patient include: stable night blindness since at least the second year of life, normally sighted parents, nummular pigment in the mid-periphery of the fundus that stops abruptly at the temporal arcades and disorganization of the retinal layers (seen on OCT) anterior to the temporal arcades. His esotropia and amblyopia are unrelated to his genetic disorder.
| Age at visit: 37 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Enhanced S-Cone Syndrome | NR2E3 | Arg311Gln CGG>CAG | Arg73Ser AGG>AGC | AR |
Disease:
Gene:
Allele 1:
Arg311Gln CGG>CAG
Allele 2:
Arg73Ser AGG>AGC
Inheritance:
AR