Glaucoma secondary to spherophakia/ectopia lentis and megalocornea

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea (Orphanet code 238763) is a rare inherited ocular disorder characterized by the combination of an abnormally spherical lens (spherophakia), displacement of the lens from its normal position (ectopia lentis), and an enlarged cornea (megalocornea), which together predispose the eye to the development of secondary glaucoma. The condition primarily affects the anterior segment of the eye. Spherophakia causes the lens to become more rounded and smaller than normal, which can lead to pupillary block as the abnormal lens pushes forward, obstructing the flow of aqueous humor between the posterior and anterior chambers. This obstruction results in elevated intraocular pressure and secondary angle-closure glaucoma. Megalocornea, defined as a corneal diameter greater than 13 mm, further contributes to structural abnormalities of the anterior chamber. Ectopia lentis may cause visual disturbances including significant refractive errors and can worsen the mechanical obstruction of aqueous outflow. Patients typically present with decreased visual acuity, eye pain, and progressive visual field loss if glaucoma is not adequately managed. The condition may occur as an isolated ocular finding or in association with systemic connective tissue disorders such as Marfan syndrome, Weill-Marchesani syndrome, or homocystinuria, where lens abnormalities are a recognized feature. Diagnosis is made through comprehensive ophthalmic examination including slit-lamp biomicroscopy, gonioscopy, measurement of intraocular pressure, and assessment of corneal diameter. Treatment focuses on controlling intraocular pressure through medical therapy (topical and systemic anti-glaucoma medications, including miotics or cycloplegics depending on the mechanism), laser iridotomy to relieve pupillary block, and surgical intervention when necessary, which may include lensectomy (removal of the displaced lens), glaucoma filtering surgery, or combined procedures. Early detection and management are critical to prevent irreversible optic nerve damage and vision loss.

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