Macular hyperpigmentary changes in ABCA4-Stargardt disease

Abstract Background Stargardt disease (STGD) and age-related macular degeneration (AMD) share clinical and pathophysiological features. In AMD, macular hyperpigmentary changes are associated to a worse prognosis. The purpose of this study was to characterize macular hyperpigmentary changes in patients with STGD and associate them with the severity of phenotype. Materials and methods This retrospective cross-sectional study included 141 patients with STGD. Hyperpigmentary changes were evaluated on color fundus photography and spectral-domain optical coherence tomography. Severity of phenotype was assessed by full-field electroretinogram (ffERG) and fundus autofluorescence (FAF) patterns, and visual acuity (VA). Results Thirty patients (21.7%) showed macular hyperpigmentary changes in four distinct patterns. Out of seventeen patients who had follow-up images, eleven patients demonstrated increases of the hyperpigmented lesions, and progression of the underlying RPE atrophy overtime. VA remained stable. Of 28 patients who had ffERG, 17 patients presented with reduction of photopic and scotopic responses, while 8 presented with reduction of photopic responses only, and 3 presented with preserved photopic and scotopic responses. Of 25 patients who had FAF available, 12 presented with widespread disease extending anteriorly to the vascular arcades, while eight presented with widespread disease, extending beyond the vascular arcades, and 5 presented with disease confined to the foveal area. Conclusion In this study, we demonstrated that patients with STGD with macular hyperpigmented lesions had a severe phenotype. Overtime, hyperpigmented lesions increased in size, spread across the retina, and migrated to different retinal layers. Macular hyperpigmentation may be a marker of advanced stage of the disease.https://deepblue.lib.umich.edu/bitstream/2027.42/148528/1/40942_2019_Article_160.pd

Contrast sensitivity deficits in patients with mutation-proven inherited retinal degenerations

Abstract Background Patients with retinal diseases frequently complain of poor visual function even when visual acuity is relatively unaffected. This clinical finding has been attributed to deficits in contrast sensitivity (CS). The purpose of our study was to evaluate the CS in patients with clinical and genetic diagnosis of inherited retinal degeneration (IRD) and relatively preserved visual acuity. Methods Seventeen patients (30 eyes) with IRD and visual acuity of 20/40 or better, and 18 controls (18 eyes) without any ocular condition underwent slit lamp examination, visual acuity testing via standard Snellen chart testing, CS testing via the Quick Contrast Sensitivity Function (QCSF), and Spectral Domain Optical Coherence Tomography (SD-OCT). CS were measured at 1.0, 1.5, 3.0, 6.0, 12.0, and 18.0 cycles per degree (cpd). T tests with general estimated equations were used to compare CS between groups. Wald chi square followed by pairwise comparisons was used to compare CS between multiple groups. Results We included 12 patients with rod-cone dystrophy (RCD), 3 patients with Stargardt disease (STGD) and 2 patients with Best disease. Patients with IRD had significantly worse CS than controls (p < 0.001) in all spatial frequencies. Patients with STGD had more marked deficits in CS than patients with Best disease (p < 0.001) and RCD (p < 0.001) despite having similar visual acuities. Conclusion Patients with IRD, especially patients with STGD with relatively preserved visual acuity have marked deficits in CS when measured across a range of spatial frequencies. We recommend that clinical trials for STGD incorporate CS measured over a range of spatial frequencies as a secondary clinical endpoint for monitoring visual function. CS may provide an explanation for complaints of visual dysfunction when visual acuity is not significantly altered.https://deepblue.lib.umich.edu/bitstream/2027.42/146723/1/12886_2018_Article_982.pd

Prospective evaluation of intravitreal bevacizumab for ischemic central retinal vein occlusion

Abstract Background Although previous studies have evaluated the effect of anti-VEGF therapies for central retinal vein occlusion (CRVO) patients, the majority of previous studies have excluded or included a very small number of patients with ischemic CRVO (iCRVO). The aim of our study is to examine the effects of bevacizumab on macular edema secondary to ischemic central retinal vein occlusion, as well as the effects on central choroidal thickness and best-corrected visual acuity. Methods In this prospective, interventional case series, iCRVO was defined by the presence of ≥ 10 or more disc diameter areas of retinal nonperfusion by fluorescein angiography (FA) and by the presence of a b/a ratio less than 1.5 by full-field electroretinogram (ffERG). Nine eyes with iCRVO received monthly bevacizumab 0.5 mg injections at baseline and months 1 to 5 for a maximum of six injections. Main outcome measures were visual acuity (Snellen), central foveal thickness, and central choroidal thickness as measured by Spectral-Domain Optical Coherence Tomography (SD-OCT) at baseline and at 6 month following initial intravitreal bevacizumab injection. Pairwise t-tests and the Wilcoxon signed-rank test were conducted to compare the outcome measures. Results After intravitreal administration of bevacizumab, there was a significant reduction of central foveal thickness from 858 ± 311 μm at baseline to 243 ± 106 μm at the 6-month follow-up, as well as a significant reduction of central choroidal thickness from 282 ± 38 μm at baseline to 227 ± 56 μm at the 6-month follow-up (p = 0.0006, p = 0.0003 respectively). The visual acuity worsened from a median of 1.3 to 1.7 (p = 0.02). Conclusion In patients with iCRVO, intravitreal bevacizumab led to a reduction of central macular edema and central choroidal thickness, but a worsening of visual acuity. Intravitreal bevacizumab reduces macular edema but is not able to overcome the poor prognosis of iCRVO.https://deepblue.lib.umich.edu/bitstream/2027.42/152181/1/40942_2019_Article_183.pd

The State of Patient-Reported Outcome Measures for Pediatric Patients with Inherited Retinal Disease

Abstract Patient-reported outcome measures (PROMs) are questionnaires that assess health outcomes meaningful to the patient. PROMs have multiple applications, such as supporting clinicians’ decision-making for patient care, understanding the impact of disease on patient functioning, and evaluating the efficacy of therapeutics. Though PROMs were developed for various eye conditions, no PROM was tailored to pediatric patients with inherited retinal disease (IRD). Hence, a literature search was conducted using MEDLINE and Embase to identify PROMs potentially relevant to this patient population. This review evaluated selected pediatric PROMs against the US Food and Drug Administration (FDA) guidelines and found restricted use in the context of IRD. As there is a need for PROMs tailored to pediatric patients with IRD, we provide a perspective on applying the International Society for Pharmacoeconomics and Outcomes Research and FDA standards on the development of PROMs specific to IRD.Plain Language Summary Inherited retinal diseases refer to a group of genetic conditions that affect the eye’s light-sensing cells and lead to vision loss. When a patient undergoes an eye assessment, the measures used are technical (e.g., visual acuity, visual field) and do not routinely address the patient’s experience. It is increasingly evident that the technical tools used do not really reflect how patients’ vision affects their daily lives. Questionnaires designed to assess how a condition impacts a daily activity are referred to as patient-reported outcome measures. The perspective of the impact of a condition on daily activities differs between adults and children. These tools are being created to evaluate health outcomes important to the patient on the basis of their condition and age. This is especially important when determining the value of therapies from the patient perspective. To date, no such questionnaire has been designed for pediatric patients with inherited retinal disease, an important cause of blindness. We explored the literature to evaluate existing pediatric vision tools and found that those could not be used to fill this gap. Given that we found a need to develop questionnaires tailored to pediatric patients with IRD, we also provide insight into how such a tool can be created for this population.http://deepblue.lib.umich.edu/bitstream/2027.42/173964/1/40123_2022_Article_514.pd

Prevalence of eye disease in Brazilian patients with psoriatic arthritis

OBJECTIVES: The aim of this study was to report the type and frequency of ocular manifestations in Brazilian psoriatic arthritis patients. METHODS: We conducted a cross-sectional study in a Brazilian tertiary hospital. The test group included 40 patients who had psoriatic arthritis according to the Classification Criteria for Psoriatic Arthritis. A control group of 40 individuals was matched for age and gender. All of the patients underwent ophthalmic evaluation, which included best-corrected visual acuity, slit lamp and fundus examinations, and dry eye diagnostic tests (Schirmer I, tear breakup time and rose bengal). Demographic parameters were also evaluated. RESULTS: The mean age of the patients was 53.9±13.1 years; the mean disease duration was 8±10.5 years. Most of the patients were women (60&#37;), and the majority had polyarticular disease (57.5&#37;). Several ocular abnormalities were found, including punctate keratitis, pinguecula, blepharitis, pterygium, cataract, glaucoma, uveitis, and retinal microvascular abnormalities. There were no significant differences in the rates of these abnormalities compared with the control group, however. The Keratoconjunctivitis sicca and dry eye diagnostic tests were more often positive in the patients with psoriatic arthritis than in the control group. CONCLUSIONS: In this study, keratoconjunctivitis sicca was the most common ocular finding related to psoriatic arthritis. Therefore, we recommend early ophthalmologic evaluations for all psoriatic arthritis patients who complain of eye symptoms

Subconjunctival 0.1% epinephrine versus placebo in maintenance of mydriasis during vitrectomy: a randomized controlled trial

Abstract Background Pupil dilation and mydriasis maintenance throughout vitreoretinal surgeries are important to allow satisfactory fundus visualization and reduce risk of complications. The purpose of this study is to evaluate the role of subconjunctival epinephrine 0.1% injection in mydriasis maintenance during vitrectomy. Methods Ninety-nine consecutive patients undergoing vitrectomy were enrolled. All subjects were preoperatively dilated with tropicamide 1%. Each patient was randomly allocated either in the epinephrine or placebo group. In epinephrine group, patients were submitted to a 0.2 cc subconjunctival injection of a 0.1% epinephrine solution just before first incisions. In placebo group, the same procedure was performed with 0.2 cc of saline 0.9%. Horizontal pupil diameter was measured with calipers before and in the end of the procedure. Results Patients in the epinephrine group showed a significantly larger mean pupil diameter in the end of the surgery compared to placebo. There was a significant increase of mean pupil diameter from the beginning to the end of the surgery in such patients. Blood pressure was significantly higher in the epinephrine group than in placebo group. No other adverse effects were noted. Conclusion Subconjunctival epinephrine is effective for maintaining and increasing pupil size during vitrectomy, compared to placebo. Caution should be taken regarding intraoperative blood pressure levels. Trial registration RBR; RBR-3qzhvg; Registered 8 May 2018—Retrospectively registered, http://www.ensaiosclinicos.gov.br/rg/RBR-3qzhvg/

Prevalence of eye disease in Brazilian patients with psoriatic arthritis

OBJECTIVES: The aim of this study was to report the type and frequency of ocular manifestations in Brazilian psoriatic arthritis patients. METHODS: We conducted a cross-sectional study in a Brazilian tertiary hospital. The test group included 40 patients who had psoriatic arthritis according to the Classification Criteria for Psoriatic Arthritis. A control group of 40 individuals was matched for age and gender. All of the patients underwent ophthalmic evaluation, which included best-corrected visual acuity, slit lamp and fundus examinations, and dry eye diagnostic tests (Schirmer I, tear breakup time and rose bengal). Demographic parameters were also evaluated. RESULTS: The mean age of the patients was 53.9±13.1 years; the mean disease duration was 8±10.5 years. Most of the patients were women (60&#37;), and the majority had polyarticular disease (57.5&#37;). Several ocular abnormalities were found, including punctate keratitis, pinguecula, blepharitis, pterygium, cataract, glaucoma, uveitis, and retinal microvascular abnormalities. There were no significant differences in the rates of these abnormalities compared with the control group, however. The Keratoconjunctivitis sicca and dry eye diagnostic tests were more often positive in the patients with psoriatic arthritis than in the control group. CONCLUSIONS: In this study, keratoconjunctivitis sicca was the most common ocular finding related to psoriatic arthritis. Therefore, we recommend early ophthalmologic evaluations for all psoriatic arthritis patients who complain of eye symptoms

Prevalence of eye disease in Brazilian patients with psoriatic arthritis

OBJECTIVES: The aim of this study was to report the type and frequency of ocular manifestations in Brazilian psoriatic arthritis patients. METHODS: We conducted a cross-sectional study in a Brazilian tertiary hospital. The test group included 40 patients who had psoriatic arthritis according to the Classification Criteria for Psoriatic Arthritis. A control group of 40 individuals was matched for age and gender. All of the patients underwent ophthalmic evaluation, which included best-corrected visual acuity, slit lamp and fundus examinations, and dry eye diagnostic tests (Schirmer I, tear breakup time and rose bengal). Demographic parameters were also evaluated. RESULTS: The mean age of the patients was 53.9±13.1 years; the mean disease duration was 8±10.5 years. Most of the patients were women (60&#37;), and the majority had polyarticular disease (57.5&#37;). Several ocular abnormalities were found, including punctate keratitis, pinguecula, blepharitis, pterygium, cataract, glaucoma, uveitis, and retinal microvascular abnormalities. There were no significant differences in the rates of these abnormalities compared with the control group, however. The Keratoconjunctivitis sicca and dry eye diagnostic tests were more often positive in the patients with psoriatic arthritis than in the control group. CONCLUSIONS: In this study, keratoconjunctivitis sicca was the most common ocular finding related to psoriatic arthritis. Therefore, we recommend early ophthalmologic evaluations for all psoriatic arthritis patients who complain of eye symptoms