[Efficacy of visual rehabilitation of patients with pellucid marginal degeneration fitted with SPOT® scleral contact lenses]. / Efficacité de la réhabilitation visuelle de patients atteints de dégénérescence marginale pellucide adaptés en lentilles sclérales SPOT.

PURPOSE: To assess visual improvement in patients with pellucid marginal degeneration (PMD) after fitting with SPOT® scleral contact lenses (Scleral Protection & Ocular Treatment, Laboratoires d'Appareillage Oculaire, Amphion-Les-Bains, France). METHODS: We report a case series of 5 patients with PMD and unsatisfactory refractive correction managed at Clermont-Ferrand university hospital from January to December 2018 fitted with customized SPOT scleral lenses. We assessed the best-corrected visual acuity (BVCA) before and after fitting with SPOT, keratometric data and tolerability of the scleral lenses. RESULTS: Nine eyes of 5 patients aged 51.8±8.47 years were fitted. The BVCA was significantly improved from 0.51 logMAR (±0.39) to 0.04 logMAR (±0.07) (P<0.001). Sixty-six percent of the patients recovered optimal BVCA. No serious adverse event was reported. The presence of whitish deposits and an inordinate amount of manipulation required were the main disadvantages of the lenses. Nevertheless, all the patients considered them to be comfortable. CONCLUSION: Fitting PMD patients who have failed conventional optical devices with SPOT scleral lenses significantly improves BCVA, without serious adverse events, allowing surgery to be deferred even when it appears to be unavoidable.

Mild aerobic exercise blocks elastin fiber fragmentation and aortic dilatation in a mouse model of Marfan syndrome associated aortic aneurysm.

Regular low-impact physical activity is generally allowed in patients with Marfan syndrome, a connective tissue disorder caused by heterozygous mutations in the fibrillin-1 gene. However, being above average in height encourages young adults with this syndrome to engage in high-intensity contact sports, which unfortunately increases the risk for aortic aneurysm and rupture, the leading cause of death in Marfan syndrome. In this study, we investigated the effects of voluntary (cage-wheel) or forced (treadmill) aerobic exercise at different intensities on aortic function and structure in a mouse model of Marfan syndrome. Four-week-old Marfan and wild-type mice were subjected to voluntary and forced exercise regimens or sedentary lifestyle for 5 mo. Thoracic aortic tissue was isolated and subjected to structural and functional studies. Our data showed that exercise improved aortic wall structure and function in Marfan mice and that the beneficial effect was biphasic, with an optimum at low intensity exercise (55-65% V̇o2max) and tapering off at a higher intensity of exercise (85% V̇o2max). The mechanism underlying the reduced elastin fragmentation in Marfan mice involved reduction of the expression of matrix metalloproteinases 2 and 9 within the aortic wall. These findings present the first evidence of potential beneficial effects of mild exercise on the structural integrity of the aortic wall in Marfan syndrome associated aneurysm. Our finding that moderate, but not strenuous, exercise protects aortic structure and function in a mouse model of Marfan syndrome could have important implications for the medical care of young Marfan patients.NEW & NOTEWORTHY The present study provides conclusive scientific evidence that daily exercise can improve aortic health in a mouse model of Marfan syndrome associated aortic aneurysm, and it establishes the threshold for the exercise intensity beyond which exercise may not be as protective. These findings establish a platform for a new focus on promoting regular exercise in Marfan patients at an optimum intensity and create a paradigm shift in clinical care of Marfan patients suffering from aortic aneurysm complications.

Ectasia dural y dolor lumbar en pacientes con síndrome de Marfan / Ectasia and lumbar pain associated with marfan syndrome

Objetivo: Evaluar clínica y radiológicamente si la presencia y el volumen de la ectasia dural (ED) se asocia con dolor lumbar en pacientes con Síndrome de Marfan (SM). Material y Método: 92 pacientes diagnosticados de SM según los criterios de Gante fueron estudiados de forma prospectiva durante un año. Se les realizó una historia clínica, pruebas de imagen, incluyendo una resonancia magnética de columna lumbar volumétrica y se les entregaron 3 cuestionarios: SRS 22 (Scoliosis Research Society) y SF 36 v- 2 e Índice de discapacidad de Oswestry en función del que subdividimos la muestra en grupo I (pacientes con dolor lumbar moderado o grave) y grupo II (pacientes sin dolor lumbar). Resultados: Se realizó análisis multivariante de las variables relacionadas con el dolor lumbar, alcanzando la ED significación estadística. Estaba presente en el 75,9% de los pacientes del grupo I, y en el 49,2% del grupo II. La presencia de la ED se asocian con dolor lumbar en pacientes con SM (p= 0,016) y con la presencia de deformidad vertebral (p <0,001). Conclusiones: La presencia y el tamaño de la ED se asocian de forma significativa con dolor lumbar en el SM pero el scalloping no influye en la mayor intensidad del dolor (AU)

Objetive: Evaluate clinically and radiographically whether the presence and size of dural ectasia (ED) is associated with low back pain in patients with Marfan syndrome (MS). Material and method: 92 patients diagnosed with MS according to Ghent criteria were studied prospectively for one year. Underwent a medical history, imaging tests, including a lumbar spine MRI volumetric and 3 questionnaires were given: SRS 22 (Scoliosis Research Society) and SF 36 v-2 and Oswestry Disability Index subdivided according to the sample in group I (patients with moderate lower back pain and / or severe) and group II (patients without pain). Results: Multivariate analysis of variables related to low back pain, the ED reached statistical significance. ED was present in 75.9% of patients in group I, and 49.2% in group II. The presence of ED is associated with low back pain in patients with MS with an OR of 3.24 (1.21 to 8.68) p = 0.016 and the presence of vertebral deformity (scalloping) with an OR of 129, 83 (16.1 to 1047.74) p <0.001. Conclusion: The presence and size of ED was significantly associated with LBP in the SM but the «scalloping» does not affect the increased intensity of pain (AU)

Economic appraisal of the Boston Ocular Surface Prosthesis.

PURPOSE: To perform an economic appraisal of the Boston Ocular Surface Prosthesis in patients with corneal ectasia, irregular astigmatism, or ocular surface disease. DESIGN: Cost, incremental cost-effectiveness, and benefit-cost analyses in a prospective observational study. METHODS: The effects of this scleral lens on visual functioning were measured in 69 patients who received the prosthesis in 2006 and were reassessed 6 months after fitting the prosthesis. Benefits, based on improvements in visual functioning, were converted to quality-adjusted life years (QALYs), and economic values were derived using results from published studies. Costs were estimated from the provider organization's 2006 operating financial statement with additions for donated resources and future scale-up. RESULTS: Mean scores on a 100-point visual functioning questionnaire (VFQ-25) improved from 57.0 to 77.8 (P < .0001). On average, each fitted patient cost $11,841 ($6001 for clinical services and $5840 to produce the prosthesis). Patients' quality of life improved by 0.10 QALYs per year. Assuming that benefits persist for an average of 5 years, the lifetime gain was 0.48 QALYs; the average cost-effectiveness of the prosthesis was $24,900 per QALY (95% confidence interval $19,100 to $29,600), and the average benefit-cost ratio was 4.0 to 1. In patients with the lowest baseline scores (average VFQ score 38.6), results were even more favorable: cost-effectiveness $17,100 per QALY and benefit-cost ratio 5.6 to 1. CONCLUSIONS: The Boston Ocular Surface Prosthesis is cost-effective and cost beneficial in patients with severely compromised visual function attributable to ectasia, irregular astigmatism, or ocular surface disease.

Visual rehabilitation and outcomes for ectasia after corneal refractive surgery.

PURPOSE: To analyze the visual outcomes and method of final visual correction in eyes with corneal ectasia after laser in situ keratomileusis (LASIK) or photorefractive keratectomy (PRK). SETTING: Emory University Department of Ophthalmology and Emory Vision, Atlanta, Georgia, USA. METHODS: This retrospective review comprised 74 eyes of 45 patients with corneal ectasia after LASIK (72 eyes) or PRK (2 eyes). Outcomes included postoperative uncorrected visual acuity (UCVA), best spectacle-corrected visual acuity (BSCVA), best corrected visual acuity (BCVA), and refraction; method of final visual correction; and time to rigid gas-permeable (RGP) contact lens failure. RESULTS: Corneal ectasia developed a mean of 19.2 months after surgery. Postoperatively, the mean UCVA was 20/400 and the mean BSCVA before ectasia management was 20/108. After ectasia management, the mean BCVA was 20/37 and the final BCVA was 20/40 or better in 78% of eyes. Final visual correction was achieved with RGP lenses in 77% of eyes, spectacles in 9%, collagen crosslinking in 3%, intracorneal ring segments in 1%, and penetrating keratoplasty (PKP) in 8%. Two eyes with intracorneal ring segments required segment explantation and subsequent PKP. One eye that had PKP had a graft-rejection episode; there were no graft failures. Two eyes (3%) did not require a visual device to improve visual acuity. The mean time for successful RGP lens wear was 24.8 months; 80% of cases initially managed with RGP lenses were successful with this form of treatment. CONCLUSIONS: The majority of eyes developing postoperative corneal ectasia achieved functional visual acuity with RGP lens wear and did not require further intervention. Penetrating keratoplasty can usually be postponed or avoided by alternative methods of visual rehabilitation; however, PKP, when necessary, can provide good visual outcomes.

Locked-in syndrome caused by basilar artery ectasia.

Despite various presentations of vertebrobasilar artery ectasia, the true incidence and its distribution and the frequency with which it produces symptoms are still uncertain. We report on a case of Locked-in syndrome caused by an ectatic elongated basilar artery, which predisposed to thrombosis and brain stem infarction.