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Foveal Hypoplasia

  • Lack of formation of the foveal depression
    • Foveal plana = absent foveal pit
  • associated with poor vision and nystagmus

Ocular Associations

  • Aniridia
  • Achromatopsia
  • Congenital retinal macrovessel
  • Coloboma
  • Optic Nerve Hypoplasia
  • Retinopathy of Prematurity

Isolated Foveal Hypoplasia

  • Autosomal Dominant from PAX 6 gene variants
  • Autosomal Recessive from SLC38A8 gene variants
    • SLC38A8 codes for a glutamine transporter in photoreceptors, mutations in the 6th transmembrane domain cause underdevelopment of the retina
  • X-linked from FRMD7 gene variants
    • FRMD7 regulates neuronal outgrowth
    • also associated with familial infantile nystagmus

Systemic Associations