Exfoliation syndrome: new genetic and pathophysiologic insights.

PURPOSE OF REVIEW: Exfoliation syndrome is the most common identifiable cause of glaucoma in the world. It has been associated with many ocular problems, such as secondary open angle glaucoma, corneal dysfunction, cataract, and zonular weakness, and may have systemic manifestations as well. This review focuses on recent genetic and pathophysiologic discoveries in the disease process. RECENT FINDINGS: Exfoliation syndrome is a progressive age-related condition of the extracellular matrix (ECM), which has various ocular implications, most notably open angle glaucoma, zonular abnormalities, and cataract formation. The pathophysiology behind exfoliation syndrome appears to involve both genetic and environmental components. The underlying genetic mechanisms are thought to be due to disruption of regulatory genes (lysyl oxidase-like and clusterin) that are involved in both the production and the breakdown of ECM material. Disease manifestations involve the accumulation and deposition of ECM fibrils throughout the eye thought to be engendered by an increased oxidative stress state. SUMMARY: A greater understanding of the genetic and pathophysiologic mechanisms underlying the disease may lead to the development of new approaches in its treatment and management.

Prevalence, treatment, and outcomes of coexistent ocular surface squamous neoplasia and pterygium.

PURPOSE: The purpose of this study was to determine the prevalence of ocular surface squamous neoplasia (OSSN) coexisting with pterygia in South Florida and to study the treatment and related outcomes. DESIGN: Noninterventional retrospective study. PARTICIPANTS: A total of 2005 patients with surgically excised pterygia at the Bascom Palmer Eye Institute from 2000 to 2010. METHODS: Pathology reports of patients with pterygia were reviewed for evidence of OSSN. Patients were divided into the following groups: pterygium and no OSSN (group 1), clinically suspected OSSN with pterygium (group 2), and unexpected OSSN with pterygium found on histopathology (group 3). Clinical charts of patients in groups 2 and 3 were reviewed. MAIN OUTCOME MEASURES: Period prevalence, treatment, and outcome. RESULTS: In surgically excised pterygia, the prevalence of coexistent OSSN was 1.7% (n = 34), of which 41% (n = 14) were clinically suspected preoperatively (group 2) and 59% (n = 20) were unexpectedly found on histopathology (group 3). Clinically suspected OSSN with pterygia was generally treated with wide surgical margins and cryotherapy, whereas unexpected OSSN with pterygia was treated with simple excision, followed by adjuvant interferon treatment in 30% (n = 6). After a mean follow-up of 2 years, there were no recurrences in the suspected OSSN group and 2 recurrences in the unexpected OSSN group. The recurrence rate in the latter group was 11% at 1 year and 24% at 2 years. CONCLUSIONS: Ocular surface squamous neoplasia is uncommonly found to coexist with pterygium. The prognosis in suspected OSSN cases is excellent, with no recurrences noted despite positive margins in 50% of cases. The recurrence rates of unexpected OSSN mirrors that of OSSN not associated with pterygium, and thus vigilance for recurrence is important.