Glaucoma with the oculocerebrorenal syndrome of Lowe

Abstract

Purpose: To further describe the glaucoma with the oculocerebrorenal syndrome of Lowe (OCRL) including the responsible filtration angle abnormalities and response to treatment.

Methods: The scientific literature regarding the glaucoma associated with OCRL from 1952, when the first report of the syndrome appeared, to the present was reviewed. The medical records of 7 patients with OCRL were studied. The occurrence of glaucoma, corneal changes secondary to glaucoma, gonioscopic abnormalities, iris features, and response to glaucoma surgery were recorded.

Results: Signs of glaucoma are defining abnormalities leading to recognition of OCRL. The OCRL medical literature reports the frequency of glaucoma, secondary clinical signs of increased intraocular pressure (IOP), and results of glaucoma surgery, but little information related to the responsible filtration angle abnormalities. Glaucoma was present in 71% (5 of 7) of patients studied, and was recognized in infancy in 9 of their 10 eyes. Gonioscopy was performed in 6 OCRL patients and revealed the constant presence of open angles, primary filtration angle anomalies, and defects considered secondary to previous infantile lens extractions. The observed anomalies were anterior insertion of the iris, narrowing of the ciliary body band, and decreased visibility of the scleral spur. The angle defects felt to be acquired following lens surgery included a more anterior insertion of the iris on to the trabecular meshwork, pigment dusting of the angle tissues, and iris synechial abnormalities related to the surgery. Bilateral goniotomies were unsuccessful in 4 of 4 patients. The fundi of 6 of 7 patients showed normal optic disc development with variable abnormalities secondary to glaucoma, and normal retinal vessels. Minimal evidence of macular development was observed in a single patient from 1 month of age to his most recent examination at 14 months of age.

Conclusion: A primary X-linked infantile glaucoma is a defining and frequent component of OCRL and is secondary to expression of a primary filtration angle anomaly. Goniotomy was unsuccessful in all (8) operated eyes. The adverse effects of cataract surgery on the filtration angle structures may influence the results of goniotomy surgery by superimposing a secondary aphakic glaucoma component that may explain the need for alternative glaucoma surgery.