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Abstract #18905 Published in IGR 3-1
Familial occurrence of pigment dispersion syndrome
Bovell AM; Damji KF; Dohadwala AA; Hodge WG; Allingham RRCanadian Journal of Ophthalmology 2001; 36:11-17
BACKGROUND: Pigment dispersion syndrome affects up to 4% of the white population. It is characterized by the presence of transillumination defects, Krukenberg's spindle and dense trabecular meshwork pigmentation. Open-angle glaucoma will develop in as many as 50% of affected patients. In this study, the authors describe the familial occurrence of pigment dispersion syndrome in six North American pedigrees and the phenotypic characteristics with respect to pigment dispersion syndrome and glaucoma. METHODS: Probands with pigment dispersion syndrome were identified in glaucoma clinics at university eye centres in Ottawa and Durham, NC. Families with two or more affected members were evaluated. All willing members in each family underwent a thorough clinical examination and were classified as affected with pigment dispersion syndrome, suspect or unaffected. The previous medical records were reviewed to obtain the past medical and ocular history, including risk factors for glaucoma. RESULTS: All six families are white. Three families show at least two generations of affected members. Of the 43 subjects examined, 58% were women. All 14 affected members showed moderate to heavy trabecular meshwork pigmentation and either Krukenberg's spindle or transillumination defects. The affected members were also considerably more myopic (mean spherical equivalent for the right eye -4.72 diopters) than the suspect group or the unaffected group (mean spherical equivalent -0.79 D and +1.19 D, respectively) (p < or = 0.001), and the intraocular pressure was higher for the affected than the unaffected group (mean for the right eye 20 mmHg versus 16 mmHg) (p = 0.004). Half those affected also had open-angle glaucoma. INTERPRETATION: The authors have identified and phenotypically characterized six North American families with autosomal dominant pigment dispersion syndrome. Their ultimate goal is to identify the gene(s) that causes this disorder in order to clarify its molecular etiology and pathophysiology. This may give rise to a molecular classification of the disease as well as provide the foundation for genetic testing and new treatment approaches.
Dr A.M. Bovell, University of Ottawa Eye Institute, Ottawa Hospital, Ottawa, Ontario, Canada
Classification:
1.2 Population genetics (Part of: 1 General aspects)