Search Results - "Khan, Naheed W"
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1
Inhibiting autophagy reduces retinal degeneration caused by protein misfolding
Published in Autophagy (03-07-2018)“…Mutations in the genes necessary for the structure and function of vertebrate photoreceptor cells are associated with multiple forms of inherited retinal…”
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2
Prolonged Inner Retinal Photoreception Depends on the Visual Retinoid Cycle
Published in The Journal of neuroscience (13-04-2016)“…In addition to rods and cones, mammals have inner retinal photoreceptors called intrinsically photosensitive retinal ganglion cells (ipRGCs), which use the…”
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3
Autophagy-mediated catabolism of visual transduction proteins prevents retinal degeneration
Published in Autophagy (01-12-2016)“…Autophagy is a lysosomal degradation pathway critical to preventing the accumulation of cytotoxic proteins. Deletion of the essential autophagy gene Atg5 from…”
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4
Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15
Published in PloS one (01-05-2012)“…Animal models of human disease are an invaluable component of studies aimed at understanding disease pathogenesis and therapeutic possibilities. Mutations in…”
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5
Autoimmune retinopathy associated with monoclonal gammopathy of undetermined significance: a case report
Published in BMC ophthalmology (16-04-2020)“…Monoclonal gammopathy of undetermined significance (MGUS) is a plasma cell dyscrasia and precursor to multiple myeloma. It has known ocular manifestations, but…”
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6
Contrast sensitivity deficits in patients with mutation-proven inherited retinal degenerations
Published in BMC ophthalmology (07-12-2018)“…Patients with retinal diseases frequently complain of poor visual function even when visual acuity is relatively unaffected. This clinical finding has been…”
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7
A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration
Published in Human molecular genetics (15-05-2011)“…Late-onset retinal macular degeneration (L-ORD) is an autosomal dominant inherited disorder caused by a single missense mutation (S163R) in the CTRP5/C1QTNF5…”
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8
Distinct signature of altered homeostasis in aging rod photoreceptors: implications for retinal diseases
Published in PloS one (08-11-2010)“…Advanced age contributes to clinical manifestations of many retinopathies and represents a major risk factor for age-related macular degeneration, a leading…”
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9
Inherited Retinal Degeneration: Genetics, Disease Characterization, and Outcome Measures
Published in Journal of ophthalmology (01-01-2017)“…With advances in genetic testing methodology, there is an increased detection of variants in multiple genes in the same family or even in the same individual,…”
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10
Macular hyperpigmentary changes in ABCA4 -Stargardt disease
Published in International journal of retina and vitreous (01-04-2019)“…Stargardt disease (STGD) and age-related macular degeneration (AMD) share clinical and pathophysiological features. In AMD, macular hyperpigmentary changes are…”
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11
Rapid visual field constriction in a patient with retinitis pigmentosa and pituitary adenoma
Published in American journal of ophthalmology case reports (01-09-2020)“…To report a case of pituitary adenoma in a patient with retinitis pigmentosa (RP) and consequent rapid constriction of the visual field in each eye, which is…”
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12
Acute panretinal structural and functional abnormalities after intravitreous ocriplasmin injection
Published in JAMA ophthalmology (01-04-2014)“…IMPORTANCE Ocriplasmin cleaves fibronectin and laminin, components of the vitreous gel, and is used as a pharmacologic treatment for vitreomacular traction…”
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13
Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy
Published in Documenta ophthalmologica (01-12-2012)“…Purpose To establish the normal range of values for rod-isolated b-wave amplitudes in achromatopsia and cone dystrophies. Methods We reviewed charts of 112…”
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14
Adherence and satisfaction in Argus II prosthesis users: a self determination theory model
Published in Ophthalmic genetics (01-08-2022)“…Self-determination theory (SDT) of human motivation was used to examine associations between different forms of motivation in Argus II retinal prosthesis users…”
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15
Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa
Published in Human gene therapy (01-07-2023)“…The use of vectors for gene supplementation has achieved spectacular success as a treatment for individuals with autosomal recessive retinal disease caused by…”
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16
Multifocal visual evoked potentials for early glaucoma detection
Published in Ophthalmic surgery, lasers & imaging (01-07-2012)“…To compare multifocal visual evoked potentials (mfVEP) with other detection methods in early open-angle glaucoma. Ten patients with suspected glaucoma and 5…”
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17
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12 -associated retinal degeneration
Published in British journal of ophthalmology (01-12-2019)“…Defects in retinol dehydrogenase 12 ( ) account for 3.4%-10.5 % of Leber congenital amaurosis and early-onset severe retinal dystrophy (EOSRD) and are a…”
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18
ISCEV extended protocol for the photopic On–Off ERG
Published in Documenta ophthalmologica (01-06-2018)“…The International Society for Clinical Electrophysiology of Vision (ISCEV) standard for full-field electroretinography (ERG) describes a minimum procedure, but…”
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19
Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis
Published in Vision research (Oxford) (01-12-2001)“…Thirteen retinoschisis males with genotyped XLRS1 gene mutations were examined by electroretinogram (ERG) techniques to determine photoreceptor involvement and…”
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Development of a Gene Therapy Vector for RDH12 -Associated Retinal Dystrophy
Published in Human gene therapy (01-11-2019)“…Early-onset severe retinal dystrophy (EOSRD) is a genetically heterogeneous group of diseases resulting in serious visual disability in children. A significant…”
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