Conditions / Eye
foveal hypoplasia 2
info · Eye
A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segm
A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen.
Signs and symptoms
- Astigmatism
- Nystagmus
- Hypoplasia of the fovea
- Reduced visual acuity
- Strabismus
- Optic nerve misrouting
- Foveal hyperpigmentation
- Axenfeld anomaly
- Posterior embryotoxon
- Microphthalmia
Also known as: FVH2; foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis