This 45 year old man has had poor night vision since at least age 2 years.
Refraction OD: | +0.25 +0.50 x 30 |
---|---|
Refraction OS: | Plano +1.00 x 155 |
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.
Age at visit: 45 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Enhanced S-Cone Syndrome | NR2E3 | IVS1-2 A>C | Arg311Gln CGG>CAG | AR |