Chapter 7

■Congenital clinical anophthalmos and blind microphthalmos are extremely rare conditions, with a prevalence rate of 1–20/100,000 newborns.

■Distribution of the conditions is approximately equal between males and females.

■Unilateral anophthalmos is encountered almost twice as frequently as bilateral anophthalmos. Microphthalmos is the least-common reason why patients present for surgery.

■With a single exception, the family histories were not positive for the conditions.

■The course of pregnancy itself was routinely unexceptional. Consanguinity and pathological chromosomal abnormalities point to the possible role of genetic factors, which are increasingly becoming the focus for research.

■As expected, obstetric delivery was not a determinant of the clinical condition.

■Comprehensive evaluation of each case requires a thorough ophthalmological examination supplemented by assessment by an experienced pediatrician.

■Associated systemic findings were more numerous in patients with anophthalmos (50%) than in

those with microphthalmos (17.6%). There was no difference in the rate of developmental anomalies in unilateral and bilateral anophthalmos. Typically, the pathology is characterized by Goldenhar syndrome and clefting.

■Magnetic resonance imaging (MRI) is generally necessary to detect developmental cerebral anomalies.

■Nasolacrimal duct pathology was present in about 75% of the affected children. Canalicular stenoses were the most common finding.

■Twenty-five percent of patients with unilateral microphthalmos and 50% of patients with unilateral anophthalmos had anomalies in the fellow eye, chiefly in the form of coloboma, dermoid, sclerocornea, and glaucoma.

■On account of this pathology in a single eye, 2 (12.5%) of the patients with unilateral microphthalmos and 13 (34.2%) of the patients with unilateral anophthalmos, as well as all 20 patients with bilateral anophthalmos, were classified as legally blind.

■Therefore, the overall blindness rate was 17.6% in microphthalmos and 3.4 times higher (56.9%) in anophthalmos.

7.1Introduction

Congenital clinical anophthalmos and blind microphthalmos are rare conditions with prevalence rates per 100,000 live births of between 1.1 [22] and 4 [2] for anophthalmos and between 2.2 [21] and 19.8 [11] for microphthalmos.

In the course of developing and establishing a new treatment strategy for this special patient group using self-inflating, highly hydrophilic hydrogel expanders [8, 18, 19], we have treated a comparatively large patient population since 1997.

This chapter first investigates the frequency of systemic disease in these patients and identifies possible pathologies of the fellow eye in primarily unilateral disease.

Summary for the Clinician

■Congenital clinical anophthalmos and blind microphthalmos are extremely rare conditions.