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https://www.readbyqxmd.com/read/28527573/retinoid-related-orphan-receptor-%C3%AE-and-transcriptional-control-of-neuronal-differentiation
#1
Hong Liu, Michihiko Aramaki, Yulong Fu, Douglas Forrest
The ability to generate neuronal diversity is central to the function of the nervous system. Here we discuss the key neurodevelopmental roles of retinoid-related orphan receptor β (RORβ) encoded by the Rorb (Nr1f2) gene. Recent studies have reported loss of function of the human RORB gene in cases of familial epilepsy and intellectual disability. Principal sites of expression of the Rorb gene in model species include sensory organs, the spinal cord, and brain regions that process sensory and circadian information...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28524147/-complex-treatment-results-in-a-congenital-glaucoma-patient-case-report
#2
O L Fabrikantov, S I Nikolashin, Yu V Matrosova, V A Kozlov, A E Kopylov, E S Pirogova
Early diagnosis of congenital glaucoma allows surgery to be performed at the stage of reversible glaucomatous alterations of the optic disc and retina. In primary congenital glaucoma, the main reason for visual acuity reduction following surgical stabilization of the intraocular pressure are corneal changes. These include an increased corneal diameter, Haab's striae, areas of thickening and a greater posterior elevation. The resultant irregular astigmatism leads to amblyopia and a marked decrease in visual acuity...
2017: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/28512424/optical-coherence-tomography-angiography-of-retinal-microvascular-changes-overlying-choroidal-nodules-in-neurofibromatosis-type-1
#3
Catherine Cassiman, Ingele Casteels, Peter Stalmans, Eric Legius, Julie Jacob
PURPOSE: To report 3 cases of neurofibromatosis type 1 (NF1) with choroidal nodules associated with retinal microvascular changes imaged with optical coherence tomography angiography (OCTA). METHODS: Small case series in 3 NF1 patients. OCTA examinations were performed by a trained examiner (J.J.) after pupillary dilation. A standard scan, centered over the macula measuring 6 × 6 mm and 3 × 3 mm was obtained according to the findings on standard color photography...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28506716/mek-retinopathy-clinical-case-reports
#4
P Rocha Cabrera, E Quijada Fumero, M J Losada Castillo, J A Abreu Reyes, J Lorenzo Morales
CASE REPORTS: Three clinical cases are presented of MEK retinopathy associated with the combination of cobimetinib and vemurafenib characterised by alteration of the retinal pigment epithelium and neurosensory detachment. Two of the cases conserved the vision of the unit, and the third developed a large bilateral neurosensory detachment with final visual acuity of 0.6 for the right eye and 0.1 for the left one. DISCUSSION: The new therapeutic strategies against metastatic cutaneous melanoma condition the appearance of alterations of the pigmentary epithelium of the retina with serous detachments, leading to close monitoring with macular optical coherence tomography...
May 12, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28506260/atypical-retinal-pigment-epithelial-defects-with-retained-photoreceptor-layers-a-so-far-disregarded-finding-in-age-related-macular-degeneration
#5
Helena Giannakaki-Zimmermann, Giuseppe Querques, Inger Christine Munch, Daraius Shroff, David Sarraf, Xuejing Chen, Eduardo Cunha-Souza, Sarah Mrejen, Vittorio Capuano, Murilo W Rodrigues, Charu Gupta, Andreas Ebneter, Martin S Zinkernagel, Marion R Munk
BACKGROUND: To report patients with age-related macular degeneration and atypical central retinal pigment epithelium (RPE) defects not attributable to geographic atrophy (GA) or RPE-tears with overlying preserved photoreceptor layers. METHODS: Multimodal imaging case-series evaluating the course of atypical RPE- defects in patients with AMD using Color fundus images, Optical coherence tomography (OCT), OCT-Angiography, fundus autofluorescence (FAF) and fluorescein-angiography (FA)...
May 15, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28501829/genetic-causes-of-optic-nerve-hypoplasia
#6
REVIEW
Chun-An Chen, Jiani Yin, Richard Alan Lewis, Christian P Schaaf
Optic nerve hypoplasia (ONH) is the most common congenital optic nerve anomaly and a leading cause of blindness in the USA. Although most cases of ONH occur as isolated cases within their respective families, the advancement in molecular diagnostic technology has made us realise that a substantial fraction of cases has identifiable genetic causes, typically de novo mutations. An increasing number of genes has been reported, mutations of which can cause ONH. Many of the genes involved serve as transcription factors, participating in an intricate multistep process critical to eye development and neurogenesis in the neural retina...
May 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28499056/recurrent-macular-detachment-due-to-occult-retinal-break-in-a-patient-with-optic-disc-pit
#7
Xi Chen, John B Miller, Dean Eliott
Serous macular detachment occurs in nearly 50% of eyes with optic disc pit. These macular detachments have been historically difficult to treat. The authors report a case of macular retinal detachment due to an occult juxtapapillary retinal break in a patient with optic disc pit refractory to prior treatments. This case demonstrates that a presumed serous detachment associated with an optic disc pit may have a rhegmatogenous etiology. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:432-434.].
May 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28499055/sequential-sterile-intraocular-inflammation-associated-with-consecutive-intravitreal-injections-of-aflibercept-and-ranibizumab
#8
Dilraj S Grewal, Tayler Schwartz, Sharon Fekrat
The authors report the unique response of two patients treated for cystoid macular edema (CME) secondary to central retinal vein occlusion (CRVO) who developed sequential episodes of likely sterile inflammatory responses following separate intravitreal injections of aflibercept (Eylea; Regeneron, Tarrytown, NY) and ranibizumab (Lucentis; Genentech, South San Francisco, CA) despite multiple previous uneventful injections for CME secondary to CRVO. Following the twenty-fifth aflibercept and seventh ranibizumab injection, two patients developed an acute inflammatory response, which was treated empirically with intravitreal antibiotics and topical and oral steroids (in Case 2)...
May 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28499054/manual-removal-of-intraocular-lens-silicone-oil-droplets-and-dystrophic-calcifications-using-a-nitinol-loop-a-case-series
#9
Kareem Moussa, Theodore Leng, Julius T Oatts, Robert B Bhisitkul, David G Hwang, Jay M Stewart
Deposition of dystrophic calcifications on the posterior surface of silicone intraocular lenses (IOLs) has been reported in patients with asteroid hyalosis. Accumulation of silicone oil droplets on the posterior surface of silicone IOLs in silicone-filled eyes has also been reported. Recently, a novel technique to manually remove dystrophic calcifications using a nickel titanium loop (Finesse Flex Loop; Alcon, Fort Worth, TX) was described, obviating the need for IOL exchange. Here, the authors report their outcomes with this technique in five eyes with IOL dystrophic calcifications as well as one eye with IOL silicone oil droplet accumulation...
May 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28499052/outcomes-of-27-gauge-vitrectomy-assisted-choroidal-and-subretinal-biopsy
#10
Dilraj S Grewal, Thomas J Cummings, Prithvi Mruthyunjaya
BACKGROUND AND OBJECTIVE: To report the initial experience of 27-gauge vitrectomy-assisted choroidal and subretinal biopsy PATIENTS AND METHODS: Retrospective, interventional case series. Eighteen eyes of 18 patients undergoing 27-gauge vitrectomy-assisted choroidal (n = 16) or subretinal biopsy (n = 2). Clinical and lesion characteristics, cytopathology, histology, gene expression profiling (GEP), visual acuity (VA), complications including vitreous hemorrhage (VH), development of rhegmatogenous retinal detachment (RD), and need for additional surgeries were analyzed...
May 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28499051/safety-and-efficacy-of-ziv-aflibercept-in-the-treatment-of-refractory-diabetic-macular-edema
#11
Mohammed Ashraf, Hassan El Kayal, Ahmed A R Souka
BACKGROUND AND OBJECTIVE: To evaluate the safety and efficacy of ziv-aflibercept (Zaltrap; Sanofi-Aventis, Bridgewater, NJ/Regeneron Pharmaceuticals, Tarrytown, NY) in the treatment of refractory diabetic macular edema (DME). PATIENTS AND METHODS: Retrospective case series looking at the safety of ziv-aflibercept in patients with DME refractory to previous anti-vascular endothelial growth factor (VEGF) therapy. Detailed ophthalmologic examination, best-corrected visual acuity, and optical coherence tomography measurements were performed pre-switch, as well as at each monthly follow-up visit...
May 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28491432/renal-transitional-cell-carcinoma-with-bilateral-ocular-metastasis-in-a-cat
#12
Irit Grader, Teresa L Southard, Marjorie H Neaderland
Case summary A 4-year-old, spayed female, domestic shorthair cat was presented for evaluation due to a 4 day history of inappetence and lethargy. Physical examination revealed mild dehydration and blindness of the left eye. Abnormal imaging findings included a well-margined soft tissue mass with irregular central cavity located in the dorsal aspect of the caudal lung lobe. Cytological examination of the mass revealed chronic inflammation with hemorrhage. Tests for parasitic and fungal diseases were negative...
July 2016: JFMS Open Rep
https://www.readbyqxmd.com/read/28489788/cytomegalovirus-retinitis-in-a-patient-with-secondary-acute-lymphosarcoma-leukemia-undergoing-allogeneic-hematopoietic-stem-cell-transplantation-a-rare-case-report-a-care-compliant-article
#13
Ning Zhao, Lei Liu, Junjie Xu
RATIONALE: Cytomegalovirus (CMV) retinitis is a common opportunistic infection in immunocompromised patients, which may lead to blindness. CMV retinitis is not an uncommon infectious disease in patients with immune regulatory abnormalities, for example, human immunodeficiency virus (HIV) patients. However, CMV retinitis in a patient with acute lymphosarcoma leukemia (ALL) undergoing allogeneic hematopoietic stem-cell transplantation (HSCT) phase is very rare. PATIENT CONCERNS: A case of CMV retinitis in a patient receiving immunosuppressive therapy as a part of ALL allogeneic HSCT is described including the pathogenesis, clinical signs, and therapy...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28481155/a-unique-case-series-of-autosomal-recessive-bestrophinopathy-exhibiting-multigenerational-inheritance
#14
Joshua S Hardin, G Bradley Schaefer, Ahmed B Sallam, M Kathryn Williams, Sami Uwaydat
INTRODUCTION: Autosomal recessive bestrophinopathy (ARB) is a retinal disease caused by biallelic mutations of the BEST1 gene. It has a variable phenotype with white flecks in the retina, multifocal yellow subretinal deposits, macular edema, choroidal neovascularization, hyperopia, and electrophysiological abnormalities. We describe a family with ARB and multigenerational inheritance. METHODS: Three generations of a Middle Eastern family (a woman, one son, and two grandchildren) were evaluated by our ocular genetics team...
May 8, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28471894/diffusion-restriction-in-the-optic-nerve-and-retina-in-patients-with-carotid-occlusion
#15
Mikel Vicente, Alba R Serrano, Neus Falgàs, Sergio Borrego, Sergio Amaro, Carlos Cardenal, Xabier Urra
OBJECTIVES: The primary role of magnetic resonance imaging (MRI) in a patient with suspected optic neuropathy is to rule out nonischemic disorders, and many of the reported cases of ischemic optic neuropathy with positive neuroimaging are atypical forms of ischemic optic neuropathy. We studied the role of diffusion-weighted images of MRI in patients with ocular ischemia. METHODS: We describe the clinical, fundoscopic and neuroimaging characteristics of 3 patients with definite ocular ischemia related to occlusion of the carotid artery...
May 2017: Neurologist
https://www.readbyqxmd.com/read/28464487/a-novel-xp22-13-microdeletion-in-nance-horan-syndrome
#16
Andrea Accogli, Monica Traverso, Francesca Madia, Tommaso Bellini, Maria Stella Vari, Francesca Pinto, Valeria Capra
BACKGROUND: Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental anomalies and facial dysmorphisms. Notably, up to 30% of NHS patients have intellectual disability and a few patients have been reported to have congenital cardiac defects. Nance-Horan syndrome is caused by mutations in the NHS gene that is highly expressed in the midbrain, retina, lens, tooth, and is conserved across vertebrate species. Although most pathogenic mutations are nonsense mutations, a few genomic rearrangements involving NHS locus have been reported, suggesting a possible pathogenic role of the flanking genes...
May 2, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28419405/optical-coherence-tomography-angiography-features-in-melanocytoma-of-the-optic-nerve
#17
Adriano Carnevali, Lea Querques, Ilaria Zucchiatti, Vincenzo Scorcia, Francesco Bandello, Giuseppe Querques
Optic disc melanocytoma (ODM) is a pigmented tumor with malignant potential characterized clinically as a dark brown to black lesion with feathery margins. The authors report a case of ODM and describe the utility of optical coherence tomography angiography (OCTA) in detecting superficial tumor vascularization. This case report demonstrated the ability of OCTA to reveal the fine abnormal retinal vasculature on the surface of the lesion, a characteristic of ODM, which has been previously correlated with tumor growth...
April 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28419403/adaptive-optics-of-small-choroidal-melanoma
#18
Murilo W Rodrigues, Emil A Say, Carol L Shields, Rodrigo Jorge
The authors report the use of an adaptive optics (AO) system in an asymptomatic patient with small choroidal melanoma. A noninvasive, novel assessment that detected potential photoreceptor abnormalities in the retina overlying the choroidal lesion and adjacent retina is presented. These findings may help current clinical evaluation to monitor structural damage to the outer retina and possibly justify earlier intervention in borderline cases. Future research is warranted to recognize full potential of this imaging modality...
April 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28419401/unilateral-pigmented-paravenous-retinochoroidal-atrophy-associated-with-presumed-ocular-tuberculosis
#19
Guillermo Fernandez-Sanz, Ester Carreño, Sonia Mall, Magella M Neveu, Graham E Holder, Dhanes Thomas
This report describes a case of unilateral pigmented paravenous retinochoroidal atrophy (PPRCA) in a patient with low-grade unilateral intermediate uveitis. A 31-year-old woman, previously diagnosed with intermediate uveitis in the right eye (OD) presented to the clinic. Best-corrected visual acuity was 20/20 OD. Fundus examination, fluorescein angiography, autofluorescence, and optical coherence tomography OD were in keeping with a phenotypic diagnosis of PPRCA. Electrophysiology showed severe photoreceptor dysfunction of both the rod and the cone systems OD...
April 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28413410/eccentric-macular-hole-after-pars-plana-vitrectomy-for-idiopathic-macular-hole-a-case-report
#20
Irini Chatziralli, George Theodossiadis, Maria Douvali, Alexandros A Rouvas, Panagiotis Theodossiadis
INTRODUCTION: Postoperative eccentric macular hole (MH) formation is an uncommon complication after pars plana vitrectomy (PPV) with internal limiting membrane (ILM) peeling for epiretinal membrane or MH treatment. Herein, we present a case of eccentric MH formation after PPV with ILM peeling for MH. CASE DESCRIPTION: A 72-year-old female patient underwent 23-gauge PPV with ILM peeling for idiopathic MH in her right eye. The visual acuity was 6/24 in the right eye...
January 2017: Case Reports in Ophthalmology
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