Authors : Dr Apurva Kalra, Dr Dhaval Thakkar

Institute- Padmashree Dr D.Y. Patil Medical College, Navi Mumbai.

E-Poster Presentation

A 22 years o ld pr imig rav ida came to the

out pat ient depar tment for an anomaly

scan at 21 weeks gesta t ion .

There is a s igni f icant fami ly his tor y.

Materna l h is tor y : Mothers s is ter has a

chi ld with bi la tera l anophtha lmia . Hea l th

of the mother was nor mal .

No s ignif icant his tor y from paterna l

s ide.

CLINICAL PROFILE

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.

Prenatal ultrasonographic features include an absent globe and an absent

lens. Gestational age at diagnosis was 21 weeks.

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.

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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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