Table 1.
Diseases associated with foveal hypoplasia
| Diseases | Factors (genes; roles) | Type of foveal hypoplasia | Frequency of foveal hypoplasia | Nystagmus and poor vision | Reduced macular pigment |
|---|---|---|---|---|---|
| Albinism | Genetic (albinism genes;[8] melanin synthesis) | I + O | Frequent | Common | Found |
| Aniridia | Genetic (PAX6; pan-ocular genesis) | I + O | Frequent | Common | Found |
| Idiopathic foveal hypoplasia | Genetic (PAX6, GPR143, SLC38A8; special forms of albinism or aniridia) | I + O | Frequent | Common | Found |
| Retinopathy of prematurity | Nongenetic (retinal vascularization) | I + O | Frequent in severe cases | Uncommon for isolated foveal hypoplasia | Not evident |
| Incontinentia pigmenti | Genetic (IKBKG; genesis of ectoderm) | I | Infrequent | Uncommon for isolated foveal hypoplasia | Not evident |
| Achromatopsia | Genetic (achromatopsia genes;[9] cone genesis) | I + O | 50%-80%[10,11,12] | Common due to cone dysfunction | Found (complicated as hyper-FAF with progressive retinal degeneration |
| Optic nerve hypoplasia | Genetic (PAX6, PAX2, and others;[13] ganglion cell genesis) | I | 24%-82%[14,15] | Common due to dysgenesis of retinal ganglion cells | Not evident |
| Familial exudative vitreoretinopathy | Genetic (Wnt signaling genes:[16] Retinal vascularization) | I | 20%[17] | Uncommon for isolated foveal hypoplasia | Not evident |
| Stickler syndrome | Genetic (procollagen genes[18]) | I | 82%[19] | Uncommon | Not evident |
FAF=Fundus autofluorescence, I=Persistence of the inner retinal layer, O=Failed cone specialization in the outer retinal layer