ALLMedicine™ Optic Atrophy Center

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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 ...

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...

Mar 4th, 2019 - To the Editor: In 1995, one of the authors (A. G.

Mar 4th, 2019 - To the Editor: In 1995, one of the authors (A. G.

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...