Foveal Hypoplasia

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

Ocular Associations

  • Aniridia (PAX6)
  • 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

Diagnostic Procedures

  • Visual acuity
    • VA is variable but can range from 20/40 to 20/200
  • Oculomotor
    • Nystagmus and strabismus
  • Ophthalmoscopy
    • absence of foveal reflex and foveal avascular zone and typical macular pigment
  • OCT
    • Absence of foveal pit, persistent inner retinal layers through fovea
    • Example of an OCT report of a child with foveal hypoplasia

ASCII���Screenshot

  • OCT-A
    • absence of superficial capillary plexus and variable decrease in deep capillary plexus in the fovea

References