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About 1,713 results

ALLMedicine™ Optic Atrophy Center

Research & Reviews  651 results

Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a...
https://doi.org/10.1002/jimd.12476
Journal of Inherited Metabolic Disease; van Esveld SL, Rodenburg RJ et. al.

Jan 14th, 2022 - SUPV3L1 encodes a helicase that is mainly localised in the mitochondria. It has been shown in vitro to possess both double-stranded RNA and DNA unwinding activity that is ATP-dependent. Here we report the first two patients for this gene who prese...

WFS1 gene associated diabetes phenotypes and identification of a founder mutation in So...
https://doi.org/10.1210/clinem/dgac002
The Journal of Clinical Endocrinology and Metabolism; Chapla A, Johnson J et. al.

Jan 13th, 2022 - Wolfram Syndrome (WFS) is a rare autosomal recessive disorder characterized by juvenile-onset diabetes, diabetes insipidus, optic atrophy, deafness and progressive neurodegeneration. However, due to the progressive nature of the disease and a lack...

Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744633
International Journal of Environmental Research and Publi... Salzano G, Rigoli L et. al.

Jan 12th, 2022 - Wolfram syndrome 1 is a rare, autosomal recessive, neurodegenerative, progressive disorder. Insulin-dependent, non-autoimmune diabetes mellitus and bilateral progressive optic atrophy are both sensitive and specific criteria for clinical diagnosis...

Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.
https://doi.org/10.1002/ajmg.a.62608
American Journal of Medical Genetics. Part A; Aggarwal A, Pillai NR et. al.

Dec 15th, 2021 - We present the case of a 20-year-old male with a history of myopathy and multiple episodes of rhabdomyolysis, and lactic acidosis. He needed hemodialysis for severe rhabdomyolysis-related acute renal failure at the time of initial presentation (ag...

Evaluation of Average Retinal Nerve Fiber Layer Measurement in Eyes with Refractive Err...
https://doi.org/10.1097/OPX.0000000000001818
Optometry and Vision Science : Official Publication of Th... Shpak AA, Korobkova MV

Dec 15th, 2021 - Optical coherence tomography (OCT) measurements of peripapillary retinal nerve fiber layer (pRNFL) play an important role in the diagnosis of glaucoma and optic atrophy. However, the interpretation of these measurements in patients with refractive...

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Drugs  9 results see all →

Clinicaltrials.gov  10 results

Efficacy Study of Daily Administration of VPA in Patients Affected by Wolfram Syndrome
https://clinicaltrials.gov/ct2/show/NCT04940572

Dec 9th, 2021 - Open label, phase II study non randomized single group assignment of 20 evaluable patients 13 years and older, over 37,5 kg body-weight, with sensorineural hearing loss of at least 20 dB at 8 kHz in high frequency average (HFA), AND with documente...

Natural History Study of ATP1A3-related Disease
https://clinicaltrials.gov/ct2/show/NCT03857607

Feb 11th, 2021 - Alternating hemiplegia of childhood (AHC) is a rare very disabling neurodevelopmental syndrome caused by mutations in the gene ATP1A3. AHC is characterized by paroxysmal events including attacks of hemiplegia (weakness), dystonia (painful stiffeni...

Safety and Efficacy of Etravirine in Friedreich Ataxia Patients
https://clinicaltrials.gov/ct2/show/NCT04273165

Nov 13th, 2020 - Friedreich ataxia is a rare progressive neurodegenerative disease presenting in childhood or late adolescence for which no treatment is currently available. The disease is caused by the defective synthesis of Frataxin, a mitochondrial protein synt...

Erythropoietin in Methanol Associated Optic Neuropathy: A Phase-2 Clinical Trial (EPO-MAON Study)
https://clinicaltrials.gov/ct2/show/NCT02376881

Mar 10th, 2020 - Methanol poisoning could result in severe optic neuropathy, profound visual loss and finally optic atrophy and permanent, irreversible optic atrophy and visual loss. Erythropoietin (EPO) has recently emerged as a drug that may help retinal ganglio...

Effects of Subtenon-injected Autologous Platelet-rich Plasma on Visual Functions in Eyes With Retinitis Pigmentosa
https://clinicaltrials.gov/ct2/show/NCT04238858

Jan 23rd, 2020 - More than 240 genetic mutations are involved in inherited retinal dystrophies, which constitute an overlapping group of genetic and clinical heterogeneous disorders. Retinitis pigmentosa (RP) is a heterogeneous genetic disorder (autosomal dominant...

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News  14 results

Cachexia Common in Lupus
https://www.medpagetoday.com/rheumatology/lupus/87893

Aug 4th, 2020 - Cachexia is an underappreciated complication of systemic lupus erythematosus, researchers reported. A total of 56.3% of patients developed the involuntary weight loss accompanied by loss of homeostatic control of protein and energy balance within ...

A 10-Year-Old Boy With Fainting Spells and Seizure Activity
https://reference.medscape.com/viewarticle/884107_6

Sep 25th, 2019 - Question 1 of 2 Which of the following conditions is not associated with congenital LQTS? Your Peers Chose: Congenital sensorineural hearing loss 0% Congenital optic atrophy 0% Syncopal attacks 0% Seizures 0% Sudden cardiac death 0% Important clue...

A 63-Year-Old Woman With Decreased Vision
https://www.medscape.com/viewarticle/894595_2

Apr 3rd, 2018 - Case Diagnosis Funduscopy showed a marked asymmetry in the optic disc cup size, with focal tissue loss inferiorly of the right optic disc. There was no optic disc pallor. The cupping of the optic disc, in the absence of optic disc pallor, was sugg...

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Patient Education  1 results see all →