Age-Dependent Iris Abnormalities in Collagen XVIII/Endostatin Deficient Mice with Similarities to Human Pigment Dispersion Syndrome

2003 ◽  
Vol 44 (6) ◽  
pp. 2367 ◽  
Author(s):  
Alexander G. Marneros ◽  
Bjorn R. Olsen
Keyword(s):  
Pigment Dispersion ◽  
Pigment Dispersion Syndrome ◽  
Collagen Xviii ◽  
Age Dependent ◽  
Deficient Mice

scholarly journals Iris configuration in accommodation in pigment dispersion syndrome

Eye ◽  
2002 ◽  
Vol 16 (6) ◽  
pp. 694-700 ◽  
Author(s):  
M O Balidis ◽  
C Bunce ◽  
C J Sandy ◽  
R P L Wormald ◽  
M H Miller
Keyword(s):  
Pigment Dispersion ◽  
Pigment Dispersion Syndrome

scholarly journals Exome-based investigation of the genetic basis of human pigmentary glaucoma

BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Carly van der Heide ◽  
Wes Goar ◽  
Kacie J. Meyer ◽  
Wallace L. M. Alward ◽  
Erin A. Boese ◽  
...  
Keyword(s):  
Genetic Basis ◽  
Immunohistochemical Analysis ◽  
Pigment Dispersion ◽  
Pigmentary Glaucoma ◽  
Visual Disability ◽  
Primary Analysis ◽  
Human Donor ◽  
Similar Frequency ◽  
Pigment Dispersion Syndrome ◽  
Rare Mutations

Abstract Background Glaucoma is a leading cause of visual disability and blindness. Release of iris pigment within the eye, pigment dispersion syndrome (PDS), can lead to one type of glaucoma known as pigmentary glaucoma. PDS has a genetic component, however, the genes involved with this condition are largely unknown. We sought to discover genes that cause PDS by testing cohorts of patients and controls for mutations using a tiered analysis of exome data. Results Our primary analysis evaluated melanosome-related genes that cause dispersion of iris pigment in mice (TYRP1, GPNMB, LYST, DCT, and MITF). We identified rare mutations, but they were not statistically enriched in PDS patients. Our secondary analyses examined PMEL (previously linked with PDS), MRAP, and 19 other genes. Four MRAP mutations were identified in PDS cases but not in controls (p = 0.016). Immunohistochemical analysis of human donor eyes revealed abundant MRAP protein in the iris, the source of pigment in PDS. However, analysis of MRAP in additional cohorts (415 cases and 1645 controls) did not support an association with PDS. We also did not confirm a link between PMEL and PDS in our cohorts due to lack of reported mutations and similar frequency of the variants in PDS patients as in control subjects. Conclusions We did not detect a statistical enrichment of mutations in melanosome-related genes in human PDS patients and we found conflicting data about the likely pathogenicity of MRAP mutations. PDS may have a complex genetic basis that is not easily unraveled with exome analyses.

scholarly journals Rescue from excitotoxicity and axonal degeneration accompanied by age-dependent behavioral and neuroanatomical alterations in caspase-6-deficient mice

2012 ◽  
Vol 21 (9) ◽  
pp. 1954-1967 ◽  
Author(s):  
Valeria Uribe ◽  
Bibiana K.Y. Wong ◽  
Rona K. Graham ◽  
Corey L. Cusack ◽  
Niels H. Skotte ◽  
...  
Keyword(s):  
Axonal Degeneration ◽  
Age Dependent ◽  
Caspase 6 ◽  
Deficient Mice

Pigment dispersion syndrome (PDS) assessment by dynamic light scattering

2003 ◽  
Author(s):  
Luca Pollonini ◽  
Andrea Pasquali ◽  
Luigi Rovati ◽  
Rafat R. Ansari ◽  
Alessandra Franzoni ◽  
...  
Keyword(s):  
Light Scattering ◽  
Dynamic Light Scattering ◽  
Pigment Dispersion ◽  
Pigment Dispersion Syndrome

Pigment dispersion syndrome and its implications for glaucoma

2021 ◽  
Author(s):  
Andres Bustamante-Arias ◽  
Raul E. Ruiz-Lozano ◽  
J. Carlos Alvarez-Guzman ◽  
Sara Gonzalez-Godinez ◽  
Alejandro Rodriguez-Garcia
Keyword(s):  
Pigment Dispersion ◽  
Pigment Dispersion Syndrome

scholarly journals Clinical Characteristics of Pigment Dispersion Syndrome and Pigmentary Glaucoma Patients: A Cross-sectional Study

2020 ◽  
Author(s):  
Vijay Pratap Singh Tomar ◽  
Sandeep Sharma ◽  
Rahul Bhardwaj ◽  
Sindhuja Singh ◽  
Virendra Kumar Pal ◽  
...  
Keyword(s):  
Visual Field ◽  
Optic Disc ◽  
Clinical Characteristics ◽  
Cross Sectional Study ◽  
Pigment Dispersion ◽  
Pigmentary Glaucoma ◽  
Spherical Equivalent ◽  
Sectional Study ◽  
Cross Sectional ◽  
Pigment Dispersion Syndrome

Introduction: Pigmentary Glaucoma (PG) and Pigment Dispersion Syndrome (PDS) are two different spectrums of a single disease. Since the disease is seen in younger population and is rapidly progressive blinding disease, therefore early diagnosis and treatment will reduce the burden of the disease and improve the quality of life. Aim: To evaluate clinical characteristics of PDS and PG patients in eastern part of Uttar Pradesh. Materials and Methods: This was a two years (1st January 2018 to 31st December 2019) hospital‑based retrospective cross‑sectional study of patients who attended the glaucoma clinic. Diagnosis of PDS was made when they had normal optic disc, normal visual field {with or without increased Intra Ocular Pressure (IOP)} and at least two of the following three signs were found clinically: Krukenberg spindle, homogenous moderate‑to‑heavy (≥Spaeth 2+) Trabecular Meshwork (TM) pigmentation, and any degree of zonular and/or lenticular pigment granule dusting. Patients with PDS were diagnosed with PG, if they had two or more of the following findings: initial IOP >21 mmHg, glaucomatous optic nerve damage or glaucomatous visual field loss. Various parameters such as influence of demographics, IOP, Best‑Corrected Visual Acuity (BCVA), Central Corneal Thickness (CCT), Mean Deviation (MD), Visual Field Index (VFI %), spherical equivalent and clinical finding of anterior segment of study patients were analysed. Mean, standard deviation and percentage were calculated using GraphPad Instat version 3.0. Results: Among 40 patients, nine eyes of the six patients had myopia of ‑0.5D or greater, with mean refractive error of ‑3.55±4.72 spherical equivalent. The average baseline IOP in study patients (PDS+PG), was 30.21±11.42 mmHg. Twenty four (60%) patients, either in one or both eyes had glaucoma, secondary to PDS at the initial diagnosis. Thirty three (82.5%) patients had Krukenberg spindles. Homogeneous TM pigmentation was seen in all patients. Typical spoke‑like radial Iris Transillumination Defects (ITDs) were not observed in any of the patients except in one patient, who had isolated short slit‑like trans‑illumination defects in iris crypts. Conclusion: PDS patients with normal optic disc and visual field and raised IOP, should be started prophylactic treatment and needs to be monitored more closely. Thus, the finding of PDS in Indians should alert the ophthalmologist to look for glaucoma during the initial examination.

scholarly journals Pigment Dispersion Syndrome Progression to Pigmentary Glaucoma in a Latin American Population

2015 ◽  
Vol 9 (3) ◽  
pp. 69-72 ◽  
Author(s):  
Hector Fernando Gomez Goyeneche ◽  
Diana Patricia Hernandez-Mendieta ◽  
Diego Andres Rodriguez ◽  
Ana Irene Sepulveda ◽  
Jose Daniel Toledo
Keyword(s):  
Latin American ◽  
Pigment Dispersion ◽  
Pigmentary Glaucoma ◽  
American Population ◽  
Pigment Dispersion Syndrome ◽  
Latin American Population

Pigment dispersion syndrome and pigmentary glaucoma: a review and update

2018 ◽  
Vol 39 (7) ◽  
pp. 1651-1662 ◽  
Author(s):  
Gianluca Scuderi ◽  
Maria Teresa Contestabile ◽  
Luca Scuderi ◽  
Aloisa Librando ◽  
Vito Fenicia ◽  
...  
Keyword(s):  
Pigment Dispersion ◽  
Pigmentary Glaucoma ◽  
Pigment Dispersion Syndrome
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