Challenges in Diagnosing Microspherophakia in a Pediatric Patient

Abstract

Microspherophakia (MSP) is a rare condition of the crystalline lens characterized by increased anteroposterior diameter and reduced equatorial diameter [1]. It is theorized that underdeveloped zonules of Zinn do not exert enough force on the lens to form the typical oval shape [1,2]. Although classically present in Weill-Marchesani (WMS) syndrome [3], microspherophakia can be associated with a number of other systemic or ocular conditions including Marfan’s syndrome [2,4], iridocorneal endothelial syndrome [5] and Axenfeld-Rieger syndrome [6] (Table 1). Non-syndromic cases of MSP are rare. Both autosomal recessive and autosomal dominant heredity have been reported [7–9]. Since 1901, isolated MSP disease was described in different ethnic groups, mostly in the Asian continent and North Africa [10]. Here we describe an unusual case of isolated microspherophakia in a pediatric patient that presented for esotropia and required ultrasound biomicroscopy (UBM) to aid in diagnosis