Journal article
The Heritability of Pigment Dispersion Syndrome and Pigmentary Glaucoma
American journal of ophthalmology, Vol.202, pp.55-61
06/2019
DOI: 10.1016/j.ajo.2019.02.017
PMID: 30796891
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 pigmentation and either Krukenberg spindle or transillumination defects.
Most of the cases of PDS in our study were sporadic, and the risk to first-degree relatives is lower than previously reported. However, there are families with apparent autosomal dominant inheritance of PDS in which the risk to relatives may be high.
Details
- Title: Subtitle
- The Heritability of Pigment Dispersion Syndrome and Pigmentary Glaucoma
- Creators
- Anamika Tandon - University of IowaZe Zhang - University of IowaJohn H Fingert - University of IowaYoung H Kwon - University of IowaKai Wang - University of IowaWallace L.M Alward - University of Iowa
- Resource Type
- Journal article
- Publication Details
- American journal of ophthalmology, Vol.202, pp.55-61
- DOI
- 10.1016/j.ajo.2019.02.017
- PMID
- 30796891
- NLM abbreviation
- Am J Ophthalmol
- ISSN
- 0002-9394
- eISSN
- 1879-1891
- Publisher
- Elsevier Inc
- Grant note
- DOI: 10.13039/100001818, name: Research to Prevent Blindness; DOI: 10.13039/100000053, name: National Eye Institute, award: R21 EY028172; DOI: 10.13039/100009857, name: Regeneron
- Language
- English
- Date published
- 06/2019
- Academic Unit
- Biostatistics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984181078702771
Metrics
24 Record Views