Microspherophakia and megalocornea with or without secondary glaucoma: A case series

Abstract

AbstractPurpose: To report a case series of 6 eyes of 3 children diagnosed with microspherophakia and megalocornea with or without secondary glaucoma (MSPKA) and to discuss its clinical features and management.Methods: We reviewed 3 cases of a boy (case 1) and 2 sisters (cases 2,3) diagnosed with MSPKA from two consanguineous families. Ultrasound biomicroscopy was performed in 2 eyes and anterior‐segment swept‐source optical coherence tomography in 6 eyes.Results: Mean corneal diameter was 13 mm. Lens equatorial diameters were, in case 1, 6.2 mm in the right eye (RE) and 6.1 mm in the left eye (LE); in case 2, 7.4 mm (RE) and 7.7 mm (LE). Systemic work‐up was unremarkable.Case 1: A 6‐year‐old boy presented with bilateral lens subluxation and advanced secondary angle‐closure glaucoma (SACG). Best‐corrected visual acuity (BCVA) was 20/200 (RE) and was limited to counting fingers (LE). We performed phacoemulsification, anterior vitrectomy and retro‐pupillary iris‐claw intraocular lens implantation (RPIC‐IOL) in both eyes. At 5 months follow‐up, BCVA was 20/50 (RE) and 20/100 (LE). Intraocular pressure (IOP) decreased to 14 mmHg in both eyes.Case 2: Ophthalmologic examination in a 5‐year‐old girl showed in both eyes: a BCVA of 20/50, megalocornea, normal IOP and iridophacodonesis. Surgery with scleral fixation of the capsular bag will be considered.Case 3: An 8‐year‐old girl was referred after a bilateral lensectomy following spontaneous luxation of the lens into the anterior chamber in her RE. Examination showed bilateral megalocornea, aphakia and normal IOP. Secondary RPIC‐IOL implantation and amblyopia management were planned.Genetic testing for the Latent Transforming Growth Factor Beta Binding Protein 2 (LTBP2) gene mutation was performed in both sisters.Conclusions: MSPKA is a rare condition that can be associated with extraocular manifestations. Patients are at a high risk of lens dislocation and SACG. Surgical management remains challenging and should not be delayed.