Isolated Spherophakia and Phacodonesis in a Young Child With Short Stature: A Case Report.

Abstract

Bilateral spherophakia is a rare congenital condition, typically associated with syndromic disorders where distinctive features facilitate early recognition. Isolated cases without systemic involvement are often underdiagnosed and identified following angle-closure glaucoma or crystalline lens (CL) subluxation. In spherophakia, the CL adopts a spherical shape due to defective zonular fibers, inducing lenticular myopia. We report the case of a six-year-old boy presenting with short stature, high myopia, and bilateral low vision, initially misdiagnosed. A progressive myopic shift of -0.50 D every three to six months led to a refractive error of -16.00 D over 10 years. Axial lengths, keratometry (K) readings, and posterior segment findings were normal, supporting a diagnosis of lenticular rather than axial or corneal myopia. Anterior chamber depths (ACD) and angles were bilaterally shallow. The co-existence of isolated spherophakia and short stature initiated genetic evaluation, given established associations with sporadic ADAMTS17 mutations. However, the results were inconclusive. Isolated spherophakia should be considered in children presenting with short stature and high myopia, particularly in consanguineous families. Grade 1 phacodonesis or lens hypermobility was observed on slit-lamp biomicroscopy, indicating CL instability. This report aims to increase awareness of spherophakia in the absence of systemic involvement. Key features include progressive high myopia with normal axial length, K readings, and increased CL thickness and power. Bilaterally shallow ACD and symptoms of intermittent blurred vision in dim light suggest angle closure. Bilateral amblyopia is also common. Careful observation for phacodonesis is emphasized as it is a potential risk for CL subluxation in spherophakia. Management strategies are outlined to support timely intervention.