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The British Journal of Ophthalmology Aug 2023Ophthalmic complications are profound in Marfan syndrome (MFS). However, the overall burden is not well described. Our purpose was to evaluate the ocular morbidity in a...
BACKGROUND
Ophthalmic complications are profound in Marfan syndrome (MFS). However, the overall burden is not well described. Our purpose was to evaluate the ocular morbidity in a nationwide perspective.
METHODS
We identified the ocular morbidity in patients with MFS (n=407) by use of Danish national healthcare registers, using number and timing of hospital contacts related to ophthalmic diagnoses, to ophthalmic surgery and to prescriptions for ophthalmic medication. An age-matched and gender-matched background population (n=40 700) was used as comparator.
RESULTS
Among MFS, 56% (226/407) of the patients had at least one registration of an ophthalmic diagnosis as inpatient or outpatient during the study period (HR of 8.0 (95% CI 7.0 to 9.2)). Seven out of 11 main groups of diagnoses were affected, including 'Lens', 'Choroid and retina', 'Ocular muscles, binocular movement, accommodation and refraction', 'Glaucoma', Visual disturbances and blindness', 'Vitreous body and globe', and 'Sclera, cornea, iris and ciliary body'. The number of surgical procedures as well as the use of ophthalmic medication in patients with MFS was significantly increased.
CONCLUSION
This nationwide epidemiological study of ocular morbidity in MFS demonstrates a profound burden and emphasises the need for thorough and experienced ophthalmological surveillance.
Topics: Humans; Marfan Syndrome; Cornea; Refraction, Ocular; Epidemiologic Studies; Morbidity
PubMed: 35318224
DOI: 10.1136/bjophthalmol-2021-320871 -
Journal of Medical Case Reports Mar 2024This case report is applicable to the field of ophthalmology because there is a paucity of medical literature related to the clinical presentation, diagnosis, and...
BACKGROUND
This case report is applicable to the field of ophthalmology because there is a paucity of medical literature related to the clinical presentation, diagnosis, and management of uveal effusion syndrome. This is an urgent concern because there are severe complications associated with this disease, including non-rhegmatogenous retinal detachment, angle closure glaucoma, and possible blindness. This report will fill clinical knowledge gaps using a patient example.
CASE PRESENTATION
A 68-year-old white male with multiple cardiovascular risk factors initially presented to the Eye Institute Urgent Care Clinic with new onset visual symptoms, including eye pain, eye lid swelling, redness, and tearing of his left eye. He had experienced a foreign body sensation in the left eye and bilateral floaters weeks prior to his presentation. The patient was examined, and vision was 20/30 in both eyes, and intraocular pressure was 46 in the right eye and 36 in the left eye. After initial assessment, including compression gonioscopy, intermittent angle closure glaucoma was suspected. He received oral diamox 500 mg, one drop of alphagan in both eyes, one drop of latanoprost in both eyes, one drop of dorzolamide in both eyes, and one drop of 2% pilocarpine in both eyes. There was only slight response in intraocular pressure. Owing to the bilateral angle closure, he underwent laser peripheral iridotomy to decrease intraocular pressure and open the angle that was found closed on gonioscopy. The patient was discharged on oral and topical glaucoma drops and scheduled for the glaucoma clinic. When he presented for follow-up in the glaucoma clinic, he was evaluated and noted to have bilateral narrow angles and intraocular pressure in the mid-twenties. A brightness scan (B-scan) was performed and was noted to have bilateral choroidal effusions, confirmed by Optos fundus photos. He was started on prednisone at 60 mg once per day (QD) with taper, continuation of oral and topical glaucoma medications, and a retina evaluation. Evaluation with a retina specialist showed resolving choroidal effusion in the left eye. He continued the prednisone taper as well as glaucoma drops as prescribed. Follow-up in the glaucoma clinic revealed a grade 3 open angle. He continued the prednisone taper, cosopt twice per day in both eyes, and discontinued brimonidine. The magnetic resonance imaging (MRI) that was performed showed results that were remarkable. No hemorrhage or mass was present. Follow-up with the retina specialist found that the choroidal effusions had resolved completely.
CONCLUSION
This case report emphasizes the value in early detection, keen diagnostic evaluation, and cross-collaboration between multiple ophthalmology specialists to optimize healthcare outcomes for patients with uveal effusion syndrome.
Topics: Humans; Male; Aged; Glaucoma, Angle-Closure; Prednisone; Uveal Effusion Syndrome; Intraocular Pressure; Eye; Brimonidine Tartrate
PubMed: 38509616
DOI: 10.1186/s13256-024-04496-1 -
Cryobiology Dec 2023The cornea is the transparent tissue in front of the eye that bends light to help the eye focus. More than five million people's vision can be restored by a corneal...
The cornea is the transparent tissue in front of the eye that bends light to help the eye focus. More than five million people's vision can be restored by a corneal transplant (keratoplasty), but there is a scarcity of suitable donor tissue. Cryopreservation could potentially increase the on-demand availability of corneas by reducing expiration and contamination during hypothermic storage, and allow equitable distribution. Understanding the transport of water and cryoprotectants across the tissue is important in developing effective cryopreservation protocols. Here, we first measured the shrinking and swelling kinetics at 22 °C and 0 °C of porcine corneoscleral discs when exposed to phosphate-buffered saline and to a cryoprotectant vehicle solution containing 2.5% chondroitin sulfate and 1% dextran. Other valuable measurements were made including the density and osmolality of the vehicle solution at 0 °C, and the water fraction of porcine cornea and sclera. Using the knowledge gained from this first part to minimize background swelling, we then examined permeation kinetics of dimethyl sulfoxide (MeSO) in porcine corneoscleral discs at 0 °C, the temperature at which cryoprotectant loading typically occurs. The concentration data obtained as a function of time were fitted to a Fick's law model of one-dimensional diffusion to measure an effective diffusion coefficient of MeSO, which was found to be 5.306×10 m/s. We further quantified permeation kinetics of MeSO in sclera alone at 0 °C to support our hypothesis that our measurements for corneoscleral discs will not be affected by the presence of the sclera. The obtained effective diffusion coefficient can be used in modelling aimed at developing cryopreservation protocols that minimize the exposure time of the corneas during the cryoprotectant loading step.
Topics: Humans; Animals; Swine; Dimethyl Sulfoxide; Cryopreservation; Cornea; Cryoprotective Agents; Water
PubMed: 37572874
DOI: 10.1016/j.cryobiol.2023.104566 -
Romanian Journal of Ophthalmology 2024To compare the anatomical and functional results and patient satisfaction following retropupillary implantation of Artisan Aphakia iris-fixated intraocular lens (rAAIF)...
To compare the anatomical and functional results and patient satisfaction following retropupillary implantation of Artisan Aphakia iris-fixated intraocular lens (rAAIF) and sutured scleral fixated intraocular lens (SFIOL). We presented a prospective double-arm non-blinded study. Forty-one eyes with acquired aphakia, no age-related macular degeneration, no previous keratoplasty, no combined procedures, no AC reaction (cells, fibrin), normal intraocular pressure, no history of endothelial corneal dystrophy in relatives or fellow eye were included. Indications, complications, corrected distance visual acuity (CDVA), endothelial cell density (ECD), and patient satisfaction score were assessed. Retropupillary AAIF was implanted in 21 (51.22%) eyes and SFIOL in 20 (48.78%) eyes. The most common indication was complicated cataract surgery in 18 cases (43.90%), followed by trauma in 16 (39.02%), and spontaneous dislocation in 7 (17.07%). No difference between rAAIF and SFIOL in terms of sex, laterality (χ=0.13, =0.72), indications (χ=0.78, =0.68), previous ocular history, and comorbidities was observed. The complications and the visual outcomes at 6 months postoperatively were similar between the two groups (=0.95 and =0.321, respectively). The ECD loss in the two groups was also similar (=0.89). The patient satisfaction score was 58.67±8.80 in the rAAIF and 56.69±11.50 in the SFIOL group, which was statistically similar (=0.764). Retropupillary AAIF and SFIOL showed similar results concerning visual acuity, endothelial cell loss, and patient satisfaction. Careful preoperative individual assessment is required to have optimal results with either technique. AAIF = Artisan Aphakia iris-fixated intraocular lens, rAAIF = retropupillary Artisan Aphakia iris-fixated intraocular lens, CDVA = corrected distance visual acuity, ECD = endothelial cell density, IOL = intraocular lens, SD = standard deviation, SFIOL = scleral fixated intraocular lens.
Topics: Humans; Prospective Studies; Lenses, Intraocular; Iris; Sclera; Aphakia
PubMed: 38617724
DOI: 10.22336/rjo.2024.04 -
Clinical Oncology (Royal College of... Aug 2023Uveal melanoma represents the most common intraocular neoplasia among adults. Brachytherapy (interventional radiotherapy; IRT) has a great advantage, when compared with...
Uveal melanoma represents the most common intraocular neoplasia among adults. Brachytherapy (interventional radiotherapy; IRT) has a great advantage, when compared with enucleation, both in terms of organ and function sparing. The Collaborative Ocular Melanoma Study introduced into clinical practice a standardised procedure that allowed the equivalence of IRT with enucleation in terms of overall survival to be demonstrated. IRT is carried out by placing a plaque in direct contact with the sclera under the uveal melanoma. Several radioactive sources may be used, including 106-ruthenium, 125-iodine, 103-palladium and 90-strontium. It is a multidisciplinary procedure requiring the collaboration of interventional radiation oncologists and ophthalmologists in the operating theatre and medical physicists for an accurate treatment time calculation. It also relies on ultrasound imaging to identify the lesion and verifiy the correct plaque placement. An emerging tool of paramount importance could be the use of artificial intelligence and predictive models to identify those patients at higher risk of developing late side-effects and therefore who may deserve preventive and supportive therapies.
Topics: Adult; Humans; Brachytherapy; Artificial Intelligence; Retrospective Studies; Uveal Neoplasms
PubMed: 36792447
DOI: 10.1016/j.clon.2023.01.021 -
Case Reports in Ophthalmology 2024Nanophthalmos is characterized by a short axial length, a thick choroid, and a thick sclera. Unilateral symptomatic disc swelling in nanophthalmos presents both a...
INTRODUCTION
Nanophthalmos is characterized by a short axial length, a thick choroid, and a thick sclera. Unilateral symptomatic disc swelling in nanophthalmos presents both a diagnostic and a therapeutic challenge.
CASE PRESENTATION
A healthy 59-year-old man reported a two-week-long abrupt vision reduction in his right eye. 20/100 best spectacle (+17.25 diopter) corrected visual acuity, unilateral widespread disc enlargement, central scotoma, and a slight color vision disruption without an afferent pupillary defect were among the positive findings in the right eye. Workup for neuro-ophthalmology was negative. Numerous consultations did not suggest any form of treatment for the patient. Review of the optical coherence tomography (OCT) indicated a small, crowded optic nerve head and substantial diffuse choroidal thickening with dome-shaped temporal peripapillary area with choroidal expansion. In addition to circumferential anterior four-quadrant 95%-deep sclerectomy from recti insertion to the vortices, radial nasal posterior sclerotomy reaching the optic nerve sheath was performed on the patient. After the procedure, 2 weeks later, the patient's vision returned, and it persisted until the 6-month follow-up. By OCT, the two eyes were comparable as far as disc contour and nerve fiber layer thickness.
CONCLUSION
This form of sclerectomy, which aims at decompressing the oncotic choroidal pressure, is an effective treatment for compressive optic neuropathy in the context of nanophthalmos. Could sclerectomy assist in treating other optic neuropathies associated with peripapillary pachychoroid?
PubMed: 38566820
DOI: 10.1159/000537829 -
FASEB Journal : Official Publication of... Sep 2023Episcleral vasculature malformation is a significant feature of Sturge-Weber syndrome (SWS) secondary glaucoma, the density and diameter of which are correlated with...
Episcleral vasculature malformation is a significant feature of Sturge-Weber syndrome (SWS) secondary glaucoma, the density and diameter of which are correlated with increased intraocular pressure. We previously reported that the GNAQ R183Q somatic mutation was located in the SWS episclera. However, the mechanism by which GNAQ R183Q leads to episcleral vascular malformation remains poorly understood. In this study, we investigated the correlation between GNAQ R183Q and episcleral vascular malformation via surgical specimens, human umbilical vein endothelial cells (HUVECs), and the HUVEC cell line EA.hy926. Our findings demonstrated a positive correlation between episcleral vessel diameter and the frequency of the GNAQ R183Q variant. Furthermore, the upregulation of genes from the Notch signaling pathway and abnormal coexpression of the arterial marker EphrinB2 and venous marker EphB4 were demonstrated in the scleral vasculature of SWS. Analysis of HUVECs overexpressing GNAQ R183Q in vitro confirmed the upregulation of Notch signaling and arterial markers. In addition, knocking down of Notch1 diminished the upregulation of arterial markers induced by GNAQ R183Q. Our findings strongly suggest that GNAQ R183Q leads to malformed episcleral vasculatures through Notch-induced aberrant arteriovenous specification. These insights into the molecular basis of episcleral vascular malformation will provide new pathways for the development of effective treatments for SWS secondary glaucoma.
Topics: Humans; Sturge-Weber Syndrome; Signal Transduction; Glaucoma; Human Umbilical Vein Endothelial Cells; Mutation; GTP-Binding Protein alpha Subunits, Gq-G11
PubMed: 37606556
DOI: 10.1096/fj.202300608R -
Ophthalmology Science Dec 2023Retinitis pigmentosa (RP) is the most common cause of inherited blindness, with onset occurring as early as 4 years of age in certain rare but severe forms caused by...
PURPOSE
Retinitis pigmentosa (RP) is the most common cause of inherited blindness, with onset occurring as early as 4 years of age in certain rare but severe forms caused by mutations in the gamma subunit of phosphodiesterase 6 (PDE6). Studies in humans and mice have shown that RP pathology begins with progressive photoreceptor death, which then drives changes in downstream neurons, neighboring retinal pigment epithelium (RPE), and vasculature. Here, we present the first detailed analysis of RP disease progression in -deficient mice.
DESIGN
Experimental study of an RP mouse model.
SUBJECTS
We studied and Pde6g mice at the age of 7, 16, 30, 44, and 56 days with n = 2 to 5 per group and time point.
METHODS
Photoreceptor degeneration and retinal remodeling were analyzed in retinal sections by immunofluorescence. Retinal blood vessel degradation was analyzed in flat-mounted retinas immunolabeled for isolectin GS-IB4. Protein expression was measured by immunoblot. Acellular capillaries were assessed in trypsin-digested and hematoxylin-eosin-stained retinas at postnatal day (P) 44. Retinal pigment epithelium cells were delineated in flat-mounted RPE-choroid-sclera by immunolabeling for the cell-adhesion protein β-catenin.
MAIN OUTCOME MEASURES
Immunofluorescence and morphometry (quantitative analysis of outer nuclear layer, dendrite area, vessel area, acellular vessels, RPE cell size, number of nuclei per RPE cell, RPE cell eccentricity, and RPE cell solidity).
RESULTS
This novel RP model exhibits early onset and rapid rod degeneration, with the vast majority gone by P16. This pathology leads to retinal remodeling, including changes of inner retinal neurons, early activation of glia cells, degradation of retinal vasculature, and structural abnormalities of the RPE.
CONCLUSIONS
The pathology in our mouse model precisely mirrors human RP progression. The results demonstrate the significant role of the gamma subunit in maintaining phosphodiesterase activity and provide new insights into the disease progression due to deficiency.
FINANCIAL DISCLOSURES
Proprietary or commercial disclosure may be found after the references.
PubMed: 37363133
DOI: 10.1016/j.xops.2023.100332