ANOPHTHALMIA

Anophthalmia is the complete absence of ocular primordia, and is considered the most extreme form of microphthalmia. Clear distinction between anophthalmia and microphthalmia may not be possible antenatally may not be possible.

CLASSIFICATION

1. Primary
• No evagination of the neyral tube to form the optic vesicles.
• 75% bilateral and have no family history or systemic defects.
• Hereditary caes have been reported (1-3).
2. Secondary
• Malformation of the entire anterior end of the neural tube. In degenerative anophthalmia the optic vesicle begins to form but subsequently degenerates (1,2).

ULTRASOUND

1. Absence of all tissues of the eye.
2. The eyelids, lacrimal gland, choroid, sclera and extraocular muscles are present, but may be hypoplastic and disorganized.
3. ± hypoplasia or absence of the optic nerves, chiasm and tracts (1).

ASSOCIATED SYNDROMES

1. Trisomy 13.
2. Goldenhar-Gorlin syndrome.
3. Lenz's syndrome.

REFERENCES

1. Haberland C, Perou M. Primary bilateral anophthalmia. J Neuropathol Exp Neurol 1969;28:337.
2. Pearce WG, Nigam S, Rootman J. Primary anophthalmos. Histological and genetic features. Can J Ophthalmol 1974;9:141.
3. Hoefnagel D, Keenan ME, Allen FH. Heredofamilial bilateral anophthalmia. Arch Ophthalmol 1963;69:760.