Results 31 to 40 of about 51,591 (290)
Inherited Macular Dystrophies in a Tertiary Care Centre
Journal of Nepal Health Research Council, 2020 Background: Inherited macular dystrophies constitute a group of diseases characterized by bilateral central visual loss with symmetrical macular abnormalities usually presenting in the first two decades of life.
Priyanka Shrestha +7 more
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Güncel Retina Dergisi (Current Retina Journal), 2021 Pattern dystrophies have been known since 1950 which have autosomal dominant inheritance pattern. Pattern dystrophies have been classified based on the pattern of the pigment distribution. Despite significant retinal changes, good visual acuity is often maintained.
openaire +1 more source
Spectrum of Pattern Dystrophy in Pseudoxanthoma Elasticum [PDF]
Archives of Ophthalmology, 2005 To study the prevalence, type, and features of pattern dystrophy in patients with pseudoxanthoma elasticum (PXE).A search of the photographic records at the Vanderbilt Eye Institute using the keywords "angioid streaks and pseudoxanthoma elasticum" yielded 28 names.
Anita, Agarwal +3 more
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Triple dystrophy—A rare occurrence: A case report
TNOA Journal of Ophthalmic Science and Research, 2023 A 46-year-old female presented with decreased vision in both eyes for 2 years, with the best corrected visual acuity of 20/50 in the right eye (OD), 20/100 in the left eye (OS).
Sree Divya Koya +2 more
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Acta Neuropathologica Communications, 2022 The descriptions of muscle pathology in dysferlinopathy patients have classically included an inflammatory infiltrate that can mimic inflammatory myopathies.
Nicole Becker +2 more
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Adult Onset Foveo-Macular Vitelliform Dystrophy Variant
Delhi Journal of Ophthalmology, 2019 Adult onset Foveo-macular vitelliform dystrophy is a relatively uncommon condition and often misdiagnosed. We describe one case of AOFVD, the case underwent a complete ophthalmic examination, fluorescein angiography, systemic evaluation including ...
Anant Prakash Tripathi, Deepa Sharma
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Growth pattern trajectories in boys with Duchenne muscular dystrophy
Orphanet Journal of Rare Diseases, 2022 Objectives The objective of this study is to analyse retrospective, observational, longitudinal growth (weight, height and BMI) data in ambulatory boys aged 5–12 years with Duchenne muscular dystrophy (DMD).
Georgia Stimpson +11 more
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Molecular insights into the regulatory interactions of Dystrophia myotonica protein kinase [PDF]
, 2006 Dystrophia Myotonica Protein Kinase (DMPK) is the defining member of a family of complex, multidomain kinases of major biomedical relevance. These kinases are characterized by a highly conserved catalytic domain and a coiled-coil motif (CC) involved in ...
Garcia, Pilar
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Topographic mapping of retinal function with the SLO-mfERG under simultaneous control of fixation in Best's disease [PDF]
, 2003 Purpose: To introduce the scanning laser ophthalmoscope-evoked mfERG (SLO-mfERG) as a new method to measure focal retinal function. Methods: Sixty-two healthy individuals and 12 patients with Best's disease were examined.
Kalpadakis, P., Rudolph, G.
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Indian Journal of Ophthalmology, 2018 Posterior polar annual choroidal dystrophy is a rare disease which affects the retina and choroid in an annular pattern. Our patient was referred to us a case of atypical retinitis pigmentosa.
Raja Narayanan
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