The Experts below are selected from a list of 42 Experts worldwide ranked by ideXlab platform
S Tsang - One of the best experts on this subject based on the ideXlab platform.
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inborn errors of metabolism pseudoxanthoma elasticum
Advances in Experimental Medicine and Biology, 2018Co-Authors: S Tsang, Tarun SharmaAbstract:Pseudoxanthoma elasticum (PXE) is an autosomal recessive multisystem disorder that involves the skin, GI tract, and heart, as well as the eye. It affects approximately 1 in 50,000 people worldwide and is seen twice as frequently in females as in males. Fundus findings include Angioid Streaks (Fig. 38.1), reticular macular dystrophy, speckled appearance temporal to the macula (peau d'orange, like the dimpled texture of an orange peel), drusen of the optic nerve, and vitelliform-like deposits. Peau d'orange may precede the development of an Angioid Streak. "Comets," with or without a tail, are seen as solitary subretinal, nodular white bodies of retinal pigment epithelium (RPE) atrophy, usually present in the mid periphery (Fig. 38.2). The tail points toward the optic disc. Patients sometimes develop choroidal neovascular membrane. Skin changes (plucked chicken-like appearance) occur on the flexure areas, including the neck and axilla, as well as increased skin laxity with excessive skin folding. Cardiovascular changes include accelerated atherosclerosis with occlusive vascular disease leading to angina, hypertension, restrictive cardiomyopathy, mitral valve prolapse, and others. Progressive calcification and fragmentation of elastic fibers in the skin, eye, and cardiovascular system is the underlying pathophysiology.
Tarun Sharma - One of the best experts on this subject based on the ideXlab platform.
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inborn errors of metabolism pseudoxanthoma elasticum
Advances in Experimental Medicine and Biology, 2018Co-Authors: S Tsang, Tarun SharmaAbstract:Pseudoxanthoma elasticum (PXE) is an autosomal recessive multisystem disorder that involves the skin, GI tract, and heart, as well as the eye. It affects approximately 1 in 50,000 people worldwide and is seen twice as frequently in females as in males. Fundus findings include Angioid Streaks (Fig. 38.1), reticular macular dystrophy, speckled appearance temporal to the macula (peau d'orange, like the dimpled texture of an orange peel), drusen of the optic nerve, and vitelliform-like deposits. Peau d'orange may precede the development of an Angioid Streak. "Comets," with or without a tail, are seen as solitary subretinal, nodular white bodies of retinal pigment epithelium (RPE) atrophy, usually present in the mid periphery (Fig. 38.2). The tail points toward the optic disc. Patients sometimes develop choroidal neovascular membrane. Skin changes (plucked chicken-like appearance) occur on the flexure areas, including the neck and axilla, as well as increased skin laxity with excessive skin folding. Cardiovascular changes include accelerated atherosclerosis with occlusive vascular disease leading to angina, hypertension, restrictive cardiomyopathy, mitral valve prolapse, and others. Progressive calcification and fragmentation of elastic fibers in the skin, eye, and cardiovascular system is the underlying pathophysiology.
Salvatore Cillino - One of the best experts on this subject based on the ideXlab platform.
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Angioid Streak related choroidal neovascularization treated by intravitreal ranibizumab
Retina-the Journal of Retinal and Vitreous Diseases, 2010Co-Authors: Maria Vadala, Alfredo Pece, Stefano Cipolla, Carla Monteleone, Federico Ricci, Francesco Boscia, Salvatore CillinoAbstract:PURPOSE The purpose of this study was to report the visual outcome of intravitreal therapy with ranibizumab of choroidal neovascularization secondary to Angioid Streaks after 1-year follow-up. METHODS Nine patients (age, 58 +/- 4 years; range, 53-65 years) were treated with off-label intravitreal injections of 0.3 mg ranibizumab. Primary outcomes were best-corrected visual acuity changes (Early Treatment Diabetic Retinopathy Study logarithm of the minimum angle of resolution and letters) and optical coherence tomography macular thickness changes. RESULTS Mean follow-up was 14 months (+/-2; range, 12-18 months). Mean visual acuity was 0.52 logarithm of the minimum angle of resolution and 30 letters (range, 0.2-1.2; 0-47 letters) at baseline and 0.37 logarithm of the minimum angle of resolution (P = 0.014) and 37 letters (range, 0-1.2; 2-55 letters) (P = 0.01) at the last examination. Seven of 9 patients (78%) gained vision (mean, 2 lines), 1 patient (11 %) was stable, and 1 patient (11 %) lost 1 line of vision (5 letters). Two patients (22%) gained >or=3 lines of visual acuity, no patient lost >1 line. Mean optical coherence tomography macular thickness was 262.4 microm (+/-34.4 standard deviation) at baseline and 216.4 microm (+/-19 standard deviation) at the last examination (P = 0.05). The mean number of injection was 5 (range, 3-7); 78% of patients needed to be retreated after the loading dose of 3 monthly injections. CONCLUSION Ranibizumab can be considered as an effective therapy in Angioid Streak-related neovascularization, even if in an off-label setting.
Русановская Анна Владимировна - One of the best experts on this subject based on the ideXlab platform.
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Grönblad-Strandberg syndrome
Ophthalmology journal, 2014Co-Authors: Vladimir Leonidovich Timokhov, Тимохов Владимир Леонидович, Anna Vladimirovna Rusanovskaya, Русановская Анна ВладимировнаAbstract:The Gronblad-Strandberg syndrome is an inherited disease characterized by mineralization of elastic fibers in the skin, blood vessels, and the eye. Skin lesions are represented by flat xanthomatous ivory-white nodules. Eye lesions are divided into stages. In the first stage, there is Angioid Streak formation. In the second stage, subretinal neovascular membranes may form. If this occurs in the subfoveal area, the patient may lose central vision. The third stage is characterized by scarring.
Maria Vadala - One of the best experts on this subject based on the ideXlab platform.
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Angioid Streak related choroidal neovascularization treated by intravitreal ranibizumab
Retina-the Journal of Retinal and Vitreous Diseases, 2010Co-Authors: Maria Vadala, Alfredo Pece, Stefano Cipolla, Carla Monteleone, Federico Ricci, Francesco Boscia, Salvatore CillinoAbstract:PURPOSE The purpose of this study was to report the visual outcome of intravitreal therapy with ranibizumab of choroidal neovascularization secondary to Angioid Streaks after 1-year follow-up. METHODS Nine patients (age, 58 +/- 4 years; range, 53-65 years) were treated with off-label intravitreal injections of 0.3 mg ranibizumab. Primary outcomes were best-corrected visual acuity changes (Early Treatment Diabetic Retinopathy Study logarithm of the minimum angle of resolution and letters) and optical coherence tomography macular thickness changes. RESULTS Mean follow-up was 14 months (+/-2; range, 12-18 months). Mean visual acuity was 0.52 logarithm of the minimum angle of resolution and 30 letters (range, 0.2-1.2; 0-47 letters) at baseline and 0.37 logarithm of the minimum angle of resolution (P = 0.014) and 37 letters (range, 0-1.2; 2-55 letters) (P = 0.01) at the last examination. Seven of 9 patients (78%) gained vision (mean, 2 lines), 1 patient (11 %) was stable, and 1 patient (11 %) lost 1 line of vision (5 letters). Two patients (22%) gained >or=3 lines of visual acuity, no patient lost >1 line. Mean optical coherence tomography macular thickness was 262.4 microm (+/-34.4 standard deviation) at baseline and 216.4 microm (+/-19 standard deviation) at the last examination (P = 0.05). The mean number of injection was 5 (range, 3-7); 78% of patients needed to be retreated after the loading dose of 3 monthly injections. CONCLUSION Ranibizumab can be considered as an effective therapy in Angioid Streak-related neovascularization, even if in an off-label setting.