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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 (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

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

References

  • Study of the Leicester Grading system, Rufai et al 2020
    • Rufai SR, Thomas MG, Purohit R, Bunce C, Lee H, Proudlock FA, Gottlob I. Can Structural Grading of Foveal Hypoplasia Predict Future Vision in Infantile Nystagmus?: A Longitudinal Study. Ophthalmology. 2020 Apr;127(4):492-500. doi: 10.1016/j.ophtha.2019.10.037. Epub 2019 Nov 4. PMID: 31937464; PMCID: PMC7105819