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      Unilateral pigmentary retinopathy: a retrospective case series

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          Most cited references 49

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          Somatic mutation, genomic variation, and neurological disease.

          Genetic mutations causing human disease are conventionally thought to be inherited through the germ line from one's parents and present in all somatic (body) cells, except for most cancer mutations, which arise somatically. Increasingly, somatic mutations are being identified in diseases other than cancer, including neurodevelopmental diseases. Somatic mutations can arise during the course of prenatal brain development and cause neurological disease-even when present at low levels of mosaicism, for example-resulting in brain malformations associated with epilepsy and intellectual disability. Novel, highly sensitive technologies will allow more accurate evaluation of somatic mutations in neurodevelopmental disorders and during normal brain development.
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            Pattern electroretinography (PERG) and an integrated approach to visual pathway diagnosis.

            The pattern electroretinogram (PERG) provides an objective measure of central retinal function, and has become an important element of the author's clinical visual electrophysiological practice. The PERG contains two main components, a positivity at approximately 50ms (P50) and a larger negativity at approximately 95ms (N95). The P50 component is affected by macular dysfunction with concomitant reduction in N95. The PERG therefore complements the Ganzfeld ERG in the assessment of patients with retinal disease. In contrast, the ganglion cell origins of the N95 component allow electrophysiological evaluation of ganglion cell function both in primary disease and in dysfunction secondary to optic nerve disease, where selective loss of N95 can be observed. Both macular dysfunction and optic nerve disease can give abnormalities in the visual evoked cortical potential (VEP), and the PERG thus facilitates more meaningful VEP interpretation. This review addresses the origins and recording of the PERG, and then draws on extensive clinical data from patients with genetically determined retinal and macular dystrophies, other retinal diseases and a variety of optic nerve disorders, to present an integrated approach to diagnosis.
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              Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies.

              Paraneoplastic and autoimmune retinopathies are immunologically mediated retinal degenerations that are associated with antibodies directed against any of several retinal proteins, including alpha-enolase. We report the clinical and electrophysiological features of antienolase retinopathy in contrast to the features of antirecoverin retinopathy. Retrospective, observational case series. Patients were referred for evaluation of unexplained acquired visual symptoms, including photopsias, and loss of visual acuity or field considered of possible retinal origin. Full-field and multifocal electroretinograms (ERGs) were performed. Sera from patients were examined for antiretinal antibodies by Western blot analysis using proteins extracted from human retinas and by immunohistochemistry; antienolase was confirmed by incubating patient sera with purified alpha-enolase. Of 87 patients with unexplained retinal visual symptoms associated with abnormal ERGs, 37 (43%) demonstrated autoantibodies to retinal antigens, including 12 against alpha-enolase, of whom 4 had cancer. Initial visual loss was typically central and often asymmetric. The ERGs demonstrated mostly normal rod responses but central cone abnormalities (evident on multifocal ERG) and, for many, global cone abnormalities. Seven patients developed optic disk pallor. Corticosteroid and immunosuppressive therapy, when attempted, was clinically ineffective. Antienolase retinopathy is a protean autoimmune retinopathy that characteristically presents with cone dysfunction. The visual impairment and course vary from relative stability for years to slow progression with loss of central vision. With time, optic disk pallor can evolve, presumably from attrition of ganglion cells.
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                Author and article information

                Contributors
                (View ORCID Profile)
                Journal
                Acta Ophthalmologica
                Acta Ophthalmol
                Wiley
                1755-375X
                1755-3768
                October 15 2018
                June 2019
                December 31 2018
                June 2019
                : 97
                : 4
                : e601-e617
                Affiliations
                [1 ]Moorfields Eye Hospital London UK
                [2 ]Quinze‐Vingts National Ophthalmology Hospital DHU Sight Restore. CIC 1423 Sorbonne‐Universités UPMC Université ParisFrance
                [3 ]Institute of Ophthalmology University College London UK
                [4 ]Oxford University Hospitals NHS Foundation Trust UK. Nuffield Department of Clinical Neurosciences John Radcliffe Hospital Oxford UK
                Article
                10.1111/aos.13981
                © 2019

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