Results 21 to 30 of about 51,591 (290)
LGMD R18 Mimicking Wilson Disease: 6-Year Longitudinal Muscle MRI Evolution and Clinical Insights into <i>TRAPPC11</i> Mutation. [PDF]
Diagnostics (Basel)Background and Clinical Significance: Limb-girdle muscular dystrophy R18 is a rare autosomal recessive disorder that may present with both muscular and hepatic involvement, potentially leading to diagnostic confusion.
Chou YT, Chou HP, Chen YW.
europepmc +2 more sources
Deep Learning to Distinguish ABCA4-Related Stargardt Disease from PRPH2-Related Pseudo-Stargardt Pattern Dystrophy. [PDF]
J Clin Med, 2021 (1) Background: Recessive Stargardt disease (STGD1) and multifocal pattern dystrophy simulating Stargardt disease (“pseudo-Stargardt pattern dystrophy”, PSPD) share phenotypic similitudes, leading to a difficult clinical diagnosis.
Miere A +9 more
europepmc +2 more sources
Multimodal imaging in multifocal pattern dystrophy simulating fundus flavimaculatus.
Indian J Ophthalmol, 2016 Roy R +4 more
europepmc +2 more sources
Diagnostics, 2021 A case of a patient with an early and severe visual impairment is described. Due to the occurrence of skin papules a suspect of pseudoxanthoma elasticum (PXE) was posed.
Francesco Demetrio Lofaro +5 more
doaj +1 more source
Pachychoroid disease mimicking pattern dystrophy
Kerala Journal of Ophthalmology, 2022 We report a case of pachychoroid disease with bilateral vitelliform lesions simulating pattern dystrophy. One eye showed spontaneous resolution of the deposits, while the other eye demonstrated recurrent deposition with onset of choroidal neovascular ...
Soman Manoj +3 more
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Multimodal Imaging in a Case with Bilateral Choroidal Folds
Case Reports in Ophthalmology, 2021 We highlight the use of multimodal imaging to diagnose and report what is, to our knowledge, a novel presentation of bilateral choroidal neovascularization (CNV) and prominent macular choroidal folds (CFs) in a patient with pattern dystrophy.
David Xu, Ambar Faridi
doaj +1 more source
Revista Brasileira de Oftalmologia, 2022 Reticular pigmentary retinal dystrophy, also known as Sjögren’s reticular dystrophy, is a rare condition characterized by macular lesions with a reticular pattern, which are best seen on fluorescein angiogram.
Carolina Campos Reis +3 more
doaj +1 more source
Indian Journal of Ophthalmology, 2020 A 47-year-old lady (index case) with diabetes and deafness showed multiple oval circumferential areas of perifoveal atrophy in both eyes. Autofluorescence revealed areas of hypoautofluorescence.
Koushik Tripathy +2 more
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Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]
, 2011 Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
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An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
, 1981 An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core +1 more source