The Heritability of Pigment Dispersion Syndrome and Pigmentary Glaucoma

American Journal of Ophthalmology
Anamika TandonW L Alward

Abstract

Pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG) are presumed to be inherited in an autosomal dominant manner. We examine relatives of patients with PDS and PG in order to determine the heritability of these diseases. This was a prospective, cross-sectional study. One hundred and one patients with PDS were prospectively recruited over 11 months. Four of the patients had PDS without ocular hypertension or glaucoma, 6 had PDS and ocular hypertension, and 91 had PG. Criteria for PDS were 2 of 3 signs: Krukenberg spindle, midperipheral iris transillumination defects, and/or heavy trabecular meshwork pigmentation. Criteria for PG were PDS and 2 of 3 signs: intraocular pressure >21 mm Hg, glaucomatous optic nerve damage, and/or glaucomatous visual field loss. Ninety-nine first-degree relatives living within a 100-mile radius of Iowa City, Iowa were examined in the clinic to determine the probability of familial transmission. A total of 10 of 99 (10.10%) first-degree relatives were diagnosed with PDS (1 with PDS alone, 2 with PDS and ocular hypertension, and 7 with PG). Seven families with ≥2 affected members were identified. The majority of affected family members (8/10) showed moderate to heavy trabecular meshwork pigm...Continue Reading

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Citations

Jan 15, 2021·Survey of Ophthalmology·Andres Bustamante-AriasAlejandro Rodriguez-Garcia
Nov 21, 2020·BMC Ophthalmology·Igor Šivec Trampuž
Apr 20, 2021·Klinische Monatsblätter für Augenheilkunde·Matthias Nobl, Marc Mackert
Jun 28, 2021·BMC Genomics·Carly van der HeideJohn H Fingert

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