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BACKGROUND: Ocular vascular occlusions following intraocular procedures are a rare complication. We report a case series of patients with retinal vascular occlusions or anterior ischemic optic neuropathy (AION) after anterior and posterior segment surgery and demonstrate possible risk factors. METHODS: Observational case series. RESULTS: In ten patients, vascular occlusions were observed within ten weeks after intraocular surgery: branch retinal arterial occlusion (BRAO) (n = 2), central retinal artery occlusion (CRAO) (n = 2), central retinal vein occlusion (CRVO) (n = 1), branch retinal vein occlusion (BRVO) (n = 1), anterior ischemic optic neuropathy (AION) (n = 3), and combined central artery and vein occlusion (n = 1). AION occurred later (27-69 d) than arterial occlusions (14-60 d) or venous occlusions (1-2 d). In all cases, either specific surgical manipulations or general vascular disorders were identified as risk factors. In addition to general cardiovascular risk factors (arterial hypertension n = 6, diabetes mellitus n = 4), internal workup disclosed bilateral stenosis of the carotid arteries (n = 1) and myeloproliferative syndrome (n = 1). CONCLUSION: Vascular occlusions after surgical ocular procedures seem to be more frequent when cardiovascular diseases coexist. Surgical maneuvers and intra- or postoperative pressure changes may act as a triggering mechanism in patients with underlying systemic cardiovascular disorders. Affected patients should undergo thorough internal examination to identify possible underlying diseases.
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IMPORTANCE: We sought to unravel the genetic cause in a consanguineous Pakistani family with a complex neurological phenotype. OBSERVATIONS: Neurological and ophthalmological examination, including videotaping and fundoscopy, and genetic investigations, including homozygosity mapping and exome sequencing, were performed at the University of the Punjab and the University of Lübeck. Participants included 2 severely affected cousins from consanguineous parents, 10 of their reportedly unaffected relatives, and 342 Pakistani controls. Motor symptoms in the 2 patients started at the age of 3 to 4 years and included chorea, cerebellar ataxia, dystonia, and pyramidal tract signs. Genome-wide genotyping delineated 2 regions of homozygosity on chromosomes 13q12.11 to 13q12.13 and 19q12 to 19q13.41. Exome sequencing revealed 2 rare, homozygous variants (c.32 T>A [p.L11Q] in OPA3 and c.941 C>G [p.A314G] in TSHZ3) that segregated with the disease. Only the OPA3 variant was absent in the control subjects and predicted to be damaging. Subsequent ophthalmological assessment revealed bilateral optic atrophy in both patients. CONCLUSIONS AND RELEVANCE: Mutations in OPA3 have been reported in Costeff optic atrophy syndrome. We identify a novel missense mutation in OPA3 as the cause of a complex neurological disorder, expanding the OPA3 -linked phenotype by early-onset pyramidal tract signs and marked lower limb dystonia. Investigation of optic atrophy was initiated only after genetic analysis, a phenomenon referred to as reverse phenotyping.
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Corea/diagnóstico , Corea/genética , Exoma/genética , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/genética , Mutación Missense/genética , Atrofia Óptica/diagnóstico , Atrofia Óptica/genética , Fenotipo , Proteínas/genética , Análisis de Secuencia de ADN/métodos , Paraplejía Espástica Hereditaria/diagnóstico , Paraplejía Espástica Hereditaria/genética , Adolescente , Niño , Distonía/diagnóstico , Distonía/genética , Femenino , Estudio de Asociación del Genoma Completo/métodos , Humanos , Masculino , Enfermedades del Sistema Nervioso/diagnóstico , Enfermedades del Sistema Nervioso/genética , LinajeRESUMEN
PURPOSE: To compare the safety, efficacy, and postoperative management of canaloplasty in one eye versus trabeculectomy with mitomycin C in the contralateral eye in patients with open-angle glaucoma. METHODS: This study was a consecutive case series of 30 eyes of 15 patients who had prior trabeculectomy with mitomycin C (group II) and later were treated with canaloplasty (group I) in the fellow eye. Primary outcome measures included intraocular pressure (IOP) and glaucoma medication after 6- and 12-month follow-up. Secondary outcome measures were number of postoperative interventions, hospitalization, and follow-up visits. RESULTS: Mean preoperative IOP±SD was 26.73±6.4 mm Hg in group I and 26.3±10.9 mm Hg in group II (P=0.9), which decreased to 13.21±2.83 mm Hg for canaloplasty (P<0.0001) and 11.64±5.2 mm Hg for trabeculectomy (P<0.0005) including 3 patients with hypotony at 12 months. Glaucoma medication decreased from 2.5 in group I and 2.7 in group II to no medication in group I and 0.36±0.74 supplemental medication in group II 12 months postoperatively (P<0.0001). Best corrected visual acuity (±SD) was logMAR 0.06±0.09 (group I) and 0.28±0.56 (group II) before and logMAR 0.07±0.09 (group I) and 0.31±0.58 (group II) after surgery. In group I, 2 interventions were necessary. In group II, 8 eyes needed 112 interventions for filtering bleb management. Although canaloplasty took significantly longer to perform, trabeculectomy group required a longer initial postoperative hospitalization (mean 10.4 vs. 5.4 d, P<0.0001) and more postoperative follow-up visits (mean 3.9 vs. 8.5, P<0.001). CONCLUSIONS: Canaloplasty and trabeculectomy were both effective in lowering IOP. However, less follow-up visits and significantly fewer complications and interventions were favorable for canaloplasty.
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Alquilantes/administración & dosificación , Cateterismo/métodos , Síndrome de Exfoliación/cirugía , Glaucoma de Ángulo Abierto/cirugía , Glaucoma de Baja Tensión/cirugía , Mitomicina/administración & dosificación , Trabeculectomía/métodos , Adulto , Anciano , Anciano de 80 o más Años , Antihipertensivos/administración & dosificación , Síndrome de Exfoliación/fisiopatología , Femenino , Glaucoma de Ángulo Abierto/fisiopatología , Humanos , Presión Intraocular/fisiología , Glaucoma de Baja Tensión/fisiopatología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del Tratamiento , Agudeza Visual/fisiologíaRESUMEN
BACKGROUND: Diabetes mellitus, as well as subsequent ocular complications such as cystoid macular edema (CME), are of fundametal socio-economic relevance. Therefore, we evaluated the influence of internal limiting membrane (ILM) removal on longterm morphological and functional outcome in patients with diabetes mellitus (DM) type 2 and chronic CME without evident vitreomacular traction. METHOD: Forty eyes with attached posterior hyaloid were included in this prospective trial and randomized intraoperatively. Prior focal (n = 31) or panretinal (n = 25) laser coagulation was permitted. Group I (n = 19 patients) underwent surgical induction of posterior vitreous detachment (PVD), group II (n = 20 patients) PVD and removal of the ILM. Eleven patients with detached posterior hyaloid (group III) were not randomized, and ILM removal was performed. One eye had to be excluded from further analysis. Examinations included ETDRS best-corrected visual acuity (BCVA), fluorescein angiography (FLA) and OCT at baseline, 3 and 6 months postoperatively. Main outcome measure was BCVA at 6 months, secondary was foveal thickness. RESULTS: Mean BCVA over 6 months remained unchanged in 85% of patients of group II, and decreased in 53% of patients of group I. Results were not statistically significant different [group I: mean decrease log MAR 95% CI (0.06; 0.32), group II: (-0.02; 0.11)]. OCT revealed a significantly greater reduction of foveal thickness following PVD with ILM removal [group I: mean change: 95% CI (-208.95 µm; -78.05 µm), group II: (-80.90 µm: +59.17 µm)]. CONCLUSION: Vitrectomy, PVD with or without ILM removal does not improve vision in patients with DM type 2 and cystoid diabetic macular edema without evident vitreoretinal traction. ILM delamination shows improved morphological results, and appears to be beneficial in eyes with preexisting PVD.
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Membrana Basal/cirugía , Retinopatía Diabética/cirugía , Edema Macular/cirugía , Vitrectomía , Cuerpo Vítreo/cirugía , Anciano , Membrana Basal/metabolismo , Biomarcadores/metabolismo , Diabetes Mellitus Tipo 2/complicaciones , Retinopatía Diabética/fisiopatología , Femenino , Angiografía con Fluoresceína , Humanos , Técnicas para Inmunoenzimas , Verde de Indocianina , Edema Macular/fisiopatología , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Agudeza Visual/fisiologíaRESUMEN
BACKGROUND: A 23 year-old female presented to a neurology department with a 3 year history of recurrent episodes involving hearing loss, encephalopathy, focal neurological deficits, and visual field deficits. In the 3 years before presentation, the patient had been treated with methylprednisolone for suspected acute demyelinating encephalomyelitis and peripheral otogenic dysfunction from which she made a complete recovery, and for a visual defect in both eyes caused by bilateral branch retinal arterial occlusion, from which she partially improved and commenced long-term treatment with acetylsalicylic acid. INVESTIGATIONS: Detailed history, clinical examination, extensive laboratory work-up, cerebrospinal fluid analysis, cerebral and spinal MRI, periventricular single-voxel (1)H magnetic resonance spectroscopy, retinal fluorescence angiography, optical coherence tomography, audiometry, neurophysiological work-up (EEG, evoked potentials). DIAGNOSIS: Susac syndrome, characterized by a combination of encephalopathy, branch retinal artery occlusions, and hearing loss. MANAGEMENT: Long-term immunosuppressive treatment with azathioprine (150 mg/day) and prednisolone (10 mg/day), and inhibition of thrombocyte function with acetylsalicylic acid (100 mg/day).