This case report describes a 22-year-old pregnant woman whose sister's child had bilateral anophthalmia. At her 21-week ultrasound, the fetus was found to have absent eye globes and lenses. Termination was performed at 23 weeks. Post-termination examination found sealed eyelids and no eyeballs. Anophthalmia is the absence of the eye globe in the orbit and has a rare birth prevalence. It can be associated with genetic syndromes or environmental factors like infections and toxic exposures. The classification and causes of anophthalmia are discussed.

1. Authors : Dr Apurva Kalra, Dr Dhaval Thakkar
Institute- Padmashree Dr D.Y. Patil Medical College, Navi Mumbai.
E-Poster Presentation

2. A 22 years old primigravida came to the
out patient department for an anomaly
scan at 21 weeks gestation.
There is a significant family history.
Maternal history : Mothers sister has a
child with bilateral anophthalmia. Health
of the mother was normal.
No significant history from paternal
side.
CLINICAL PROFILE

3.  Ultrasound findings: The fetal eye globes and lenses could not be seen on
two-dimensional (2D) ultrasound. No other fetal malformations were
detected.
 Termination of pregnancy was done at 23 weeks of gestation.
 At birth both eyelids appear sealed and there is no sign of either eyebulbs.

4. Prenatal ultrasonographic features include an absent globe and an absent
lens. Gestational age at diagnosis was 21 weeks.

5. ANOPHTHALMIA
 Anophthalmia – It is absence of the eye globe in an orbit that otherwise contains
normal adnexal elements. The eyelids are structurally normal but are shorter.
 It is a rare condition with a birth prevalence of 3 per 1,00,000 population
respectively.[1]
 It is usually associated with CNS malformations, aneuploidies, cytomegalovirus
infection and mental retardation. It can also be part of genetic conditions such as
Fraser, Goltz, Goldenhar, Waardenburg and Lenz syndromes.

6. ANOPHTHALMIA
 Classification - True or Primary anophthalmia - failure of the optic vesicle to bud
from the cerebral vesicle; the optic nerves and tract are usually absent or
rudimentary. Secondary anophthalmia - eye rudiments are often detectable.
 Causes - chromosomal, monogenic and environmental. Chromosomal
duplications, deletions and translocations are implicated. Of monogenic causes
only SOX2 has been identified as a major causative gene, Gestational-acquired
infections ,maternal vitamin A deficiency, exposure to X-rays, solvent misuse and
thalidomide exposure.[2]
 Differential Diagnosis - Severe Microphthalmia, Cryptophthalmos, Cystic Eye.
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7. ANOPHTHALMIA
References-
1 ) Morrison D, Fitzpatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, Jones I, Chalmers J,
Campbell H: National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland:
investigation of genetic etiology. J Med Genet 2002, 39:16-22.
2) Mann I. Abnormalities affecting the eye as a whole. In: Mann I, ed. Developmental Abnormalities of
the Eye. Philadelphia, Pa: Lippin- cott; 1957:60–66