Definition:Congenital abnormalities in development of eye include anophthalmia, microphthalmia, macrophthalmia, staphyloma, cryptophthalmos, coloboma, morning glory disc

Morning Glory Anomaly of the Optic Nerve:Eye, Congenital Anomalies mglory_b.jpg
  • Rare case and usually unilateral.
  • Affects women more than men with a ratio of 2:1.
  • Clinical features:
    • Symptoms: poor vision, amblyopia and strabismus.
    • Signs:
      • Leukokoria in the first months or years of life
      • Funnel-shaped, excavation of the optic disc and peripapillary retina
      • Enlarged disc with indistinct border surrounded by depigmented areas
      • White, elevated, hyperplastic glial tissues occupies the central disc
      • Abnormally narrow, straight vessels radiated from the disc margins
  • Increased risk of non-rhegmatogenous serous retinal detachment.
  • May be associated with basal encephalocele in patients with mid-line facial defect.
Anophthalmia:

also known as anophthalmos (Greek: ανόφθαλμος, "without eye"), is the congenital absence of one or both eyes. It is a medical term that describes the lack of eye of occular tissue and globe from the eye. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar hypoplasia. Anophthalmia can be congenital or it can be acquired later in life. Genetic mutations, chromosomal abnormalities, and prenatal environment can all cause anophthalmia. Anophthalmia is an extremely rare disease and is mostly rooted in genetic abnormalities. It can also be associated with other syndromes


Microphthalmia :
also referred to as microphthalmos, nanophthalmia or nanophthalmos, is a developmental disorder of the eye that literally means small eye (micros = small; ophthalmos = eye). One (Unilateral Microphthalmia) or both (Bilateral Microphthalmia) eyes may be involved

Cryptophthalmos:
Cryptophthalmos is a rare congenital anomaly in which the skin is continuous over the eyeball with absence of eyelids. It is classified into three types: complete, incomplete and abortive. Failure of eyelid separation can be associated with maldevelopment of the underlying cornea and microphthalmia. Cryptophthalmos usually occurs on both sides and occurs in association with other multiple malformations collectively referred to as Fraser syndrome

Coloboma:
A coloboma (from the Greek koloboma, meaning defect,[1] and also part of the rare Cat eye syndrome) is a hole in one of the structures of the eye, such as the iris, retina, choroid or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure between two structures in the eye, which is present during early stages of prenatal development, fails to close up completely before a child is born. The classical description in medical literature is of a key-hole shaped defect. A coloboma can occur in one or both eyes.