Dataset Information

Pigment dispersion syndrome: A brief overview.

ABSTRACT:

Background

Pigment dispersion syndrome (PDS) is characterized by dispersion of pigment in the anterior chamber structures and can present with deposits on the central corneal endothelium or Krukenberg spindle, iris trans-illumination spoke-like defects, and increased pigmentation in the iridocorneal angle. It is more common in myopic patients with a predominance in young males in the third to fifth decade of life that affects about 1-2% of the population. PDS is a risk factor and can give lead to a rise in intraocular pressure (IOP) and secondary glaucoma. Pigmentary glaucoma (PG) can develop from PDS in the presence of elevated IOP coupled with glaucomatous optic neuropathy, retinal nerve fiber thinning, and/or visual field defects. PDS and PG have the same clinical features, representing different levels of severity on the same clinical spectrum.

Relevance for patients

Early diagnosis, appropriate management, and follow-up of patients with PDS are important to prevent vision deterioration or blindness due to glaucomatous optic neuropathy.

SUBMITTER: Zeppieri M

PROVIDER: S-EPMC9741933 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature

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Publications

Pigment dispersion syndrome: A brief overview.

Zeppieri Marco M

Journal of clinical and translational research 20220907 5

<h4>Background</h4>Pigment dispersion syndrome (PDS) is characterized by dispersion of pigment in the anterior chamber structures and can present with deposits on the central corneal endothelium or Krukenberg spindle, iris trans-illumination spoke-like defects, and increased pigmentation in the iridocorneal angle. It is more common in myopic patients with a predominance in young males in the third to fifth decade of life that affects about 1-2% of the population. PDS is a risk factor and can giv ...[more]

PMID: 36518550

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Project description:PURPOSE: Single nucleotide polymorphisms (SNPs) in the LOXL1 gene have been implicated in exfoliation syndrome (XFS) and exfoliation glaucoma (XFG). We have shown that these SNPs are not associated with the primary glaucomas such as primary open-angle (POAG) glaucoma and primary angle-closure glaucoma (PACG). To further establish the specificity of LOXL1 SNPs for XFS and XFG, we determined whether these SNPs were involved in pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). METHODS: Three SNPs of LOXL1 (rs1048661, rs3825942, and rs2165241) were screened in a cohort of 78 unrelated and clinically well characterized glaucoma cases comprising of PG (n=44) and PDS (n=34) patients as well as 108 ethnically matched normal controls of Caucasian origin. The criteria for diagnosis of PDS/PG were Krukenberg spindle, hyperpigmentation of the trabecular meshwork, and wide open angle. Transillumination defects were detected by infrared pupillography, and the presence of a Zentmayer ring was considered as a confirmatory sign. All three SNPs were genotyped in cases and controls by resequencing the genomic region of LOXL1 harboring these variants and were further confirmed by polymerase chain reaction (PCR)-based restriction digestions. Haplotypes were generated from the genotype data, and the linkage disequilibrium (LD) and haplotype analysis were done with Haploview software that uses the expectation maximization (EM) algorithm. RESULTS: The LOXL1 SNPs showed no significant association with PDS or PG. There was no significant difference in the frequencies of the risk alleles of rs1048661 ('G' allele; p=0.309), rs3825942 ('G' allele' p=0.461), and rs2165241 ('T' allele; p=0.432) between PG/PDS cases and controls. Similarly, there was no involvement of the XFS/XFG-associated haplotypes, 'G-G' (p=0.643; [OR=1.08, 95%CI, 0.59-1.97]) and 'T-G' (p=0.266; [OR=1.35, 95%CI, 0.70-2.60]), with the PDS/PG phenotypes. The risk haplotype 'G-G' was observed in ~55% of the normal controls. CONCLUSIONS: There was no involvement of the LOXL1 SNPs in patients with PDS and PG. The results further indicate that the associations of these SNPs are specific to XFS/XFG.

Dataset Information

Pigment dispersion syndrome: A brief overview.

Background

Relevance for patients

Publications

Pigment dispersion syndrome: A brief overview.

Similar Datasets

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