True anophthalmos is defined by Duke-Eider' as lacking any essential eye structures whatsoever. Because the presence of some amount of ocular tissue is a requisite stimulus for orbital development,2 the condition should be differentiated from cases of "clinical anophthalmos" (which may include extreme microphthalmos3), from congenital cystic eyeball, from microphthalmos with cyst, and from crypthophthalmos. Congenital anophthalmos traditionally has been difficult to diagnose: Sassani and Yanoff require histological sectioning to demonstrate absence of a rudimentary globe.4 In the living pediatric patient in whom blepharophimosis and a seemingly empty socket give rise to suspicion of congenital anophthalmos, definitive diagnosis heretofore has had to await surgical exploration under anesthesia.
We have recently confirmed the clinical diagnosis of true congenital anophthalmos in two infants using A- and B-scan ultrasonography.
Patient No. 1
C.B., a female, was born in July 1 977, two weeks prematurely to a 24-year-old, G-2, P-2 black woman following a completely normal pregnancy. The child weighed 3010 gm at birth, had an Apgar score of 7, and experienced considerable respiratory distress. Lung scans. revealed the diffuse haziness of pleural effusion. Upon persistence of dusky cyanosis, O2 therapy was instituted. Narrow palpebral fissures, sunken appearance of the lids, and apparently empty orbits strongly suggested anophthalmos (Fig. 1). Contact B-scan and ?-scan of both eyes demonstrated orbits containing nothing but fat pads (Fig. 2).
Fig. 1. Patient No. 1. The appearance of the baby with tiny palpebral apertures and a few normal looking cilia.
Fig. 2. Standardized A- and contact B-scan echograms of both orbits showed no cystic structure which might be interpreted as a cryptophthalmic eye.
Fig. 3. Patient No. 2. Note the sunken appearance of both pairs of eye/ids. in addition, note the prominent residua/ lanugo on the forehead.
Patient No. 2
LS., a full-term, otherwise healthy, infant, was born in July 1976, to a G-1, P-1 Latino mother after normal labor and delivery. The pre- and perinatal histories were totally unremarkable. During routine administration of AgNÜ3 postnatally, a nurse discovered the child to have "empty sockets" (Fig. 3). Ultrasonography subsequently failed to disclose the presence of any ocular structures at all in either orbit (Fig. 4).
Bruckner5 has said that micro- and macropthalmic diagnoses are best and most safely made by ultrasound. To this claim we would add our recommendation for ultrasound as an initial examining technique in cases of suspected anophthalmos, believing that this method can eliminate time, trauma, and cost involved in more traditional diagnostic efforts.
Congenital anophthalmos must be differentiated from "clinical anophthalmos" where blepharophimosis renders examination of the contents of the orbit impossible. Ultrasonographic examination of these orbits can be performed for documentation of the total absence of cyst-like ocular structures without the need for examination under anesthesia and surgical exploration. Two cases of true anophthalmos have recently been seen by us and the diagnosis confirmed ultrasonographically.
Fig. 4. Standardized A- and contact ? -scan of both orbits failed to demonstrate any eye-like structure.
1. Duke-Elder S (ed): System of Ophthalmology, Vol. III. St. Louis, CV Mosby Co, 1963, ? 416.
2. Kennedy RE: The effect of early enucleation on the orbit in animals and humans. Trans Am Ophthalmol Soc 62:459-510, 1964.
3. Soil DB, Asbell RL: In Symposium on Plastic Surgery of the Orbital Region, Vol. 12, Paul Tessier, et al (eds). St. Louis, CV Mosby Co, 1976, ? 141.
4. Sassani JW, Yanoff M: Anophthalmos in an infant with multiple congenital anomalies. Am J Ophthalmol 83(1 ):43-8, 1977.
5. Bruckner HL: The role of ?-scan ultrasonics in ophthalmology. Ann Ophthalmol 3:1014-24, 1971.