enhanced S-cone syndrome 2

info · Eye

A retinal disease that is characterized by an increased number of cones in the retina, primarily those expressing S-cone opsins that has_material_basis_in compound heterozygous and homozygous mutation in the NRL gene on chromosome 14q11.

Signs and symptoms

Constriction of peripheral visual field
Mild myopia
Nyctalopia
Hypermetropia
Pigmentary retinopathy
Retinal thinning on OCT
Nummular pigmentation of the retina
Retinitis
Patchy atrophy of the retinal pigment epithelium
Amblyopia