keyword
https://read.qxmd.com/read/38397151/lack-of-association-between-loxl1-variants-and-pigment-dispersion-syndrome-pigmentary-glaucoma-a-meta-analysis
#1
JOURNAL ARTICLE
Shisong Rong, Xinting Yu
The phenotypic similarities between exfoliation syndrome (XFS)/exfoliation glaucoma (XFG) and pigment dispersion syndrome (PDS)/pigmentary glaucoma (PG), particularly their association with material deposition in the eye's anterior segment, have prompted investigations into genetic commonalities. This study focuses on the LOXL1 gene, conducting a comprehensive meta-analysis of three candidate gene association studies. We analyzed three single nucleotide polymorphisms (SNPs) of LOXL1 : rs1048661, rs3825942, and rs2165241...
January 26, 2024: Genes
https://read.qxmd.com/read/38397132/genetic-basis-of-pigment-dispersion-syndrome-and-pigmentary-glaucoma-an-update-and-functional-insights
#2
REVIEW
Shisong Rong, Xinting Yu, Janey L Wiggs
Pigment Dispersion Syndrome (PDS) and Pigmentary Glaucoma (PG) comprise a spectrum of ocular disorders characterized by iris pigment dispersion and trabecular meshwork changes, resulting in increased intraocular pressure and potential glaucomatous optic neuropathy. This review summarizes recent progress in PDS/PG genetics including rare pathogenic protein coding alterations ( PMEL ) and susceptibility loci identified from genome-wide association studies ( GSAP and GRM5/TYR). Areas for future research are also identified, especially the development of efficient model systems...
January 23, 2024: Genes
https://read.qxmd.com/read/38384405/causes-and-management-strategies-for-elevated-intraocular-pressure-after-implantable-collamer-lens-implantation
#3
REVIEW
Di Gong, Simin Deng, Kuanrong Dang, Zonghui Yan, Jiantao Wang
With the widespread application of Implantable Collamer Lens (ICL) implantation surgery in the field of myopia correction, a comprehensive understanding of its potential complications, especially those related to intraocular pressure (IOP), becomes crucial. This article systematically reviews various complications that may lead to IOP elevation after ICL surgery. Firstly, common complications after ICL surgery, including residual viscoelastic, steroid response, and excessive vault of the ICL, are detailed, emphasizing their potential impact on intraocular pressure...
2024: Frontiers in Medicine
https://read.qxmd.com/read/38304644/cardiovascular-manifestations-of-pseudoexfoliation-syndrome-a-narrative-review
#4
REVIEW
Rajal R Bora, Roshan Prasad, Swapneel Mathurkar, Kashish Bhojwani, Akshansh Prasad
Pseudoexfoliation syndrome (PEX) is a long-term, age-related extracellular matrix condition that causes aberrant fibrillary pseudoexfoliative material (PXM) to accumulate in various body tissues. The anterior portion of the eye is where this disorder most frequently presents. It affects the entire body. Most frequently, it is seen in older people, usually those over 50. Fibrillar deposits are a symptom of the pseudoexfoliation syndrome and are found in the anterior part of the eye. Deposition of fibrillary white flaky material is seen...
January 2024: Curēus
https://read.qxmd.com/read/38279201/sterile-granulomatous-panuveitis-in-dogs-in-the-united-kingdom-a-review-of-33-cases
#5
JOURNAL ARTICLE
J Burgess, E Scurrell, E Collier, H Featherstone
PURPOSE: To describe the clinical and histopathological features of a sterile granulomatous panuveitis syndrome in 33 dogs that underwent enucleation and ocular histopathology. METHODS: Retrospective review of the medical records and ocular histopathology reports of 33 cases. Inclusion criteria were enucleation in conjunction with characteristic clinical and histopathological features. RESULTS: Thirteen breeds were represented (including crossbreeds)...
January 26, 2024: Veterinary Ophthalmology
https://read.qxmd.com/read/38228233/long-anterior-zonule-trait-lessons-learned-about-an-uncommon-form-of-secondary-angle-closure-a-case-report
#6
J González Martín-Moro, Y Fernández Miguel, C Izquierdo Rodríguez, V Miralles Pechuán, K Villar Zarra, M Castro Rebollo
A 62-year-old black woman with uncontrolled chronic narrow-angle glaucoma on 3-drug therapy underwent phaco-non-perforating deep sclerectomy of her left eye. During surgery it was revealed that she had long zonule trait. She later required goniopuncture and conjuntival needling, presenting an iris herniation in the goniopuncture that could be reduced conservatively. Long anterior zonule trait should be suspected in those patients presenting with a combination of narrow angle and pigment dispersion syndrome...
January 14, 2024: Archivos de la Sociedad Española de Oftalmología
https://read.qxmd.com/read/38033738/unilateral-congenital-lenticular-pigmentation
#7
Yahya Al-Najmi, Abdulrahman Alsaggaf, Maram E A Abdalla Elsayed, Mohammed Albeedh
INTRODUCTION: Release of pigments in the anterior chamber is frequently observed in pigment dispersion syndrome, an autosomal dominant disorder marked by bilateral pigment deposition on the anterior and possibly posterior lens capsule, zonules of the lens, trabecular meshwork, and corneal endothelium, in addition to radial, spoke-like transillumination defects in the mid peripheral iris [J Ayub Med Coll Abbottabad. 2017;29(3):412-414 and Optom Vis Sci. 1995;72(10):756-762]. Pigmentation of the anterior lens surface has also been associated with intraocular inflammation, pseudoexfoliation syndrome, siderosis, antipsychotic medication usage, and remnants of the tunica vasculosa lentis [Br J Ophthalmol...
2023: Case Reports in Ophthalmology
https://read.qxmd.com/read/37868183/bilateral-serous-chorioretinopathy-and-pigmentary-glaucoma-what-is-the-association
#8
Dina Lešin Gaćina, Sonja Jandroković, Sania Vidas Pauk, Ana Pupić-Bakrač, Nenad Vukojević, Igor Petriček, Ivan Škegro, Martina Galiot Delić
We present a patient with concurrent pigmentary glaucoma, bilateral central serous chorioretinopathy and unilateral optic disc pit, and propose a possible association of these conditions. Comprehensive ophthalmic examination of a 36-year-old man who was complaining of blurry vision and pain in the eyes showed reduced visual acuity on the left eye, elevated intraocular pressure in the right eye, bilateral signs of pigment dispersion syndrome, and bilateral central serous chorioretinopathy, combined with optic disc pit in the left eye...
December 2022: Acta Clinica Croatica
https://read.qxmd.com/read/37833870/disrupting-the-repeat-domain-of-premelanosome-protein-pmel-produces-dysamyloidosis-and-dystrophic-ocular-pigment-reflective-of-pigmentary-glaucoma
#9
JOURNAL ARTICLE
Elizabeth D Hodges, Paul W Chrystal, Tim Footz, Lance P Doucette, Nicole C L Noel, Zixuan Li, Michael A Walter, W Ted Allison
Pigmentary glaucoma has recently been associated with missense mutations in PMEL that are dominantly inherited and enriched in the protein's fascinating repeat domain. PMEL pathobiology is intriguing because PMEL forms functional amyloid in healthy eyes, and this PMEL amyloid acts to scaffold melanin deposition. This is an informative contradistinction to prominent neurodegenerative diseases where amyloid formation is neurotoxic and mutations cause a toxic gain of function called "amyloidosis". Preclinical animal models have failed to model this PMEL "dysamyloidosis" pathomechanism and instead cause recessively inherited ocular pigment defects via PMEL loss of function; they have not addressed the consequences of disrupting PMEL's repetitive region...
September 22, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37680309/unilateral-acute-iris-transillumination-syndrome-with-glaucoma-and-iris-pigment-epithelium-dispersion-simulating-iris-melanoma
#10
Orlando G Gonzalez Martinez, Carol L Shields, Jerry A Shields, Patricia Chévez-Barrios, Debbie Rigney Walley, Ralph C Eagle, Tatyana Milman
PURPOSE: To report a patient with a unilateral presentation of glaucoma, pain, and acute iris transillumination syndrome simulating iris melanoma. OBSERVATIONS: A 53-year-old male presented with blurred vision and pain in his right eye several weeks following a respiratory sinus infection managed by oral azithromycin. Examination of the right eye was notable for elevated intraocular pressure of 46 mm Hg, an irregular mid-dilated pupil, and diffuse iris transillumination with pigmentary seeding on the iris surface, in the anterior chamber angle, and on the sclera, suspicious for diffuse iris melanoma with glaucoma and extrascleral extension...
December 2023: American Journal of Ophthalmology Case Reports
https://read.qxmd.com/read/37674269/bilateral-acute-iris-transillumination-syndrome-following-covid-19-infection-and-moxifloxacin-use
#11
JOURNAL ARTICLE
Katerina Lazari, Sofia Androudi, Efthymios Dardiotis, Evangelia E Tsironi, Eleni Papageorgiou
No abstract text is available yet for this article.
September 6, 2023: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://read.qxmd.com/read/37669762/secondary-glaucoma-toward-interventions-based-on-molecular-underpinnings
#12
REVIEW
Anna Mueller, Isabel Lam, Krishna Kishor, Richard K Lee, Sanjoy Bhattacharya
Glaucoma is a heterogeneous group of progressive diseases that leads to irreversible blindness. Secondary glaucoma refers to glaucoma caused by a known underlying condition. Pseudoexfoliation and pigment dispersion syndromes are common causes of secondary glaucoma. Their respective deposits may obstruct the trabecular meshwork, leading to aqueous humor outflow resistance, ocular hypertension, and optic neuropathy. There are no disease-specific interventions available for either. Pseudoexfoliation syndrome is characterized by fibrillar deposits (pseudoexfoliative material) on anterior segment structures...
September 5, 2023: WIREs Mech Dis
https://read.qxmd.com/read/37491816/domestication-related-changes-in-seed-dispersal-and-pigmentation-visual-selection-and-functional-trait
#13
JOURNAL ARTICLE
Petr Smýkal, Travis Parker
No abstract text is available yet for this article.
August 7, 2023: Molecular Plant
https://read.qxmd.com/read/37160763/bilateral-acute-iris-transillumination-bait-syndrome-differential-diagnosis-based-on-clinical-oct-and-ubm-findings
#14
JOURNAL ARTICLE
Sebastião Cronemberger, Daniel Vítor Vasconcelos-Santos, Clóvis Correia de Carvalho, José Herculano Carvalho, Júlia Calixto, Alberto Diniz-Filho
INTRODUCTION: Bilateral acute iris transillumination (BAIT) is a relatively new syndrome whose etiopathogenesis is still not fully understood. It is characterized by acute bilateral onset of intense pigment dispersion in the anterior chamber, iris depigmentation with severe transillumination defects, accentuated pigment deposition in the angle, and elevated intraocular pressure (IOP). In literature, the first case was of bilateral acute iris depigmentation (BADI) reported in 2004 in a 77-year-old woman...
January 2024: European Journal of Ophthalmology
https://read.qxmd.com/read/37073188/haptic-amputation-under-endoscopic-guidance-in-uveitis-glaucoma-hyphema-syndrome-a-case-report
#15
Merai Alshehri, Ali Al Beshri, Dania Bamefleh
Uveitis-glaucoma-hyphema (UGH) syndrome is a rare ophthalmic postoperative complication in which the intraocular implants or devices like intraocular lenses (IOLs) produce chronic mechanical chaffing to the adjacent uveal tissues and/or trabecular meshwork (TM) resulting in a wide spectrum of clinical ophthalmic manifestations ranging from chronic uveitis to secondary pigment dispersion, iris defects, hyphema, macular oedema, or spiked intraocular pressure (IOP). Spiked IOP is a result of direct damage to the TM, hyphema, pigment dispersion, or recurrent intraocular inflammation...
March 2023: Curēus
https://read.qxmd.com/read/37007257/histopathology-of-pigment-dispersion-syndrome-and-glaucoma-a-case-report
#16
Dipankar Das, Ganesh Chandra Kuri, Shahinur Tayab, Harsha Bhattacharjee, Saurabh Deshmukh, Apurba Deka
Pigment dispersion syndrome (PDS) can have varied manifestations. Anterior and posterior segment involvement by dispersed pigments was documented in gross pathology and by staining under microscopy. Pigmentary changes in the sclera, cornea, anterior chamber, iris, trabecular meshwork, lens, and retinal pigment epithelium and optic nerve findings were consistent with PDS. External scleral and vitreous pigmentation has never been reported before in the scientific literature. Retinal pigment degeneration and granule dispersion were seen throughout the retina which could be a contributing factor in the etiology of PDS...
2023: Oman Journal of Ophthalmology
https://read.qxmd.com/read/36835439/germline-nup98-variants-in-two-siblings-with-a-rothmund-thomson-like-spectrum-protein-functional-changes-predicted-by-molecular-modeling
#17
JOURNAL ARTICLE
Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D'Ursi, Lidia Larizza
Two adult siblings born to first-cousin parents presented a clinical phenotype reminiscent of Rothmund-Thomson syndrome (RTS), implying fragile hair, absent eyelashes/eyebrows, bilateral cataracts, mottled pigmentation, dental decay, hypogonadism, and osteoporosis. As the clinical suspicion was not supported by the sequencing of RECQL4 , the RTS2-causative gene, whole exome sequencing was applied and disclosed the homozygous variants c.83G>A (p.Gly28Asp) and c.2624A>C (p.Glu875Ala) in the nucleoporin 98 ( NUP98 ) gene...
February 16, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/36800590/axenfeld-rieger-syndrome-combined-with-ectropion-uveae-and-pigment-dispersion-syndrome-a-case-report
#18
JOURNAL ARTICLE
Yang Li, Jie Liu, Qingmei Tian, Xianzhen Ma, Yuhui Zhao, Hongsheng Bi
BACKGROUND: In January 2021, we found one case of Axenfeld-Rieger syndrome combined with pigment dispersion syndrome (PDS), and this patient additionally manifested a symptom of ectropion uveae. The co-existence of both 2 syndromes is very rare and has not been reported in any literature yet. CASE PRESENTATION: A 34-year-old female truck driver presented to our institution with a dimness of vision in her right eye. The patient had obvious posterior embryotoxons at bitamporal, and peripheral anterior synechia could be visualized by the slit lamp...
February 17, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/36747504/bilateral-acute-iris-transillumination-syndrome-after-topical-moxifloxacin-dexamethasone-initially-misdiagnosed-as-uveitis-case-report
#19
Daniella Socci da Costa, Aluisio Rosa Gameiro Filho, Andrea Lima Barbosa, Maria Vitória Moura Brasil
Bilateral acute iris transillumination (BAIT) syndrome is a rare condition of unknown etiology, characterized by acute onset of pigment dispersion in the anterior chamber, depigmentation of the iris, and heavy pigment deposition in the anterior chamber angle, with bilateral involvement in most cases. We present a case of a 46-year-old healthy woman, who developed BAIT in both eyes, following the use of topical moxifloxacin/dexamethasone for bilateral bacterial conjunctivitis, followed by a nonarteritic anterior ischemic optic neuropathy in the left eye...
2023: Case Reports in Ophthalmology
https://read.qxmd.com/read/36653737/bilateral-acute-iris-transillumination-bait-a-rare-syndrome-possibly-associated-with-covid-19-and-moxifloxacin-use-a-report-of-2-cases
#20
JOURNAL ARTICLE
Kristina Lončarić, Rašeljka Tadić, Marin Radmilović, Zoran Vatavuk
Bilateral acute iris transillumination (BAIT) is a rare clinical entity, presumed to be associated with preceding upper respiratory tract infection and/or use of certain antibiotics, marked by bilateral acute loss of iris pigment epithelium with pigment dispersion in the anterior chamber and trabecular meshwork, which can cause elevated intraocular pressure and glaucoma, and with iris transillumination and sphincter paralysis which lead to photophobia and blurry vision. We report the first two cases of BAIT in our center which both had a history of preceding COVID-19 (coronavirus disease 2019) and moxifloxacin use...
January 18, 2023: Seminars in Ophthalmology
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