Macular hypoplasia

Human retina cross-section
Macular hypoplasia
Other namesFoveal hypoplasia
This condition is inherited via autosomal dominant manner.

Macular hypoplasia (or foveal hypoplasia) is a rare medical condition involving the underdevelopment of the macula,[1] a small area on the retina (the eye's internal surface) responsible for seeing in detail and sensing light.[2] Macular hypoplasia is often associated with albinism.[1]

When the foveal area of the eye is compromised, visual clarity and color perception are reduced.[2] Diagnosing is done by an ophthalmologist.[2] The foveal area of the eye is located in the back of the eyeball. It is placed in front of the optic nerve and is responsible for light sensory and visual perceptiveness.[3][4]

Other diseases with foveal hypoplasia besides albinism include aniridia, retinopathy of prematurity, and Alport syndrome.[5][6]

  1. ^ a b "OMIM Entry - # 136520 - FOVEAL HYPOPLASIA 1; FVH1". omim.org. Retrieved 2017-07-28.
  2. ^ a b c "Foveal Hypoplasia 1 | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2022-07-13.
  3. ^ Rehman, Ibraheem; Mahabadi, Navid; Motlagh, Mahsaw; Ali, Tayyeba (2022), "Anatomy, Head and Neck, Eye Fovea", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 29493926, retrieved 2022-07-28
  4. ^ "Foveal Hypoplasia 1 | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2022-07-28.
  5. ^ Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I (November 2020). "Normal and abnormal foveal development". Br J Ophthalmol. 106 (5): 593–599. doi:10.1136/bjophthalmol-2020-316348. PMID 33148537. S2CID 226248229.
  6. ^ Hess K, Pfau M, Wintergerst MW, Loeffler KU, Holz FG, Herrmann P (February 2020). "Phenotypic Spectrum of the Foveal Configuration and Foveal Avascular Zone in Patients With Alport Syndrome". Invest Ophthalmol Vis Sci. 61 (2): 5. doi:10.1167/iovs.61.2.5. PMC 7324255. PMID 32031577.