SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts [PDF]
, 2017 Acknowledgements We sincerely thank the patients and family members who participated in this study. We would also like to thank Stefan Esher, Umeå University, for help with genealogy, and Anna Westerlund for excellent technical assistance.
Ameur, Adam +15 more
core +1 more source
Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters
American Journal of Ophthalmology Case Reports, 2022 Purpose: To present a case of two siblings with optic atrophy associated with Wolfram Syndrome. Observations: Two young adult siblings presented with serious bilateral loss of vision and dyschromatopsia established in early adolescence.
Tryfon Rotsos +4 more
doaj +1 more source
Uniplanar nystagmus associated with perceptual and cognitive visual dysfunction due to presumed focal ischemic occipital cortical atrophy: a missed diagnosis and new observation [PDF]
, 2012 Uniplanar nystagmus has been described in relation to pathology of the brain stem, retina, optic nerve, sensory visual deprivation, periventricular leucomalacia, and drug toxicity.
Dorris, Liam +2 more
core +3 more sources
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy
EMBO Molecular Medicine, 2023 Graphical Abstract Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).
Sylvie Gerber +11 more
doaj +1 more source
Blindness incidence in Germany - A population-based study from Württemberg-Hohenzollern [PDF]
, 1999 Few data on the incidence of blindness in Germany are available. We analysed causes of legal blindness for the region Württemberg-Hohenzollern (population 5.5 million) in order to help fill in this gap.
Klauss, V. +4 more
core +1 more source
Optic atrophy 1 (OPA1) is essential for NET formation and antibacterial functions in neutrophils
, 2016 Poorya Amini
openalex +3 more sources
Molecular Genetics and Metabolism Reports, 2014 OPA3-related 3-methylglutaconic aciduria, or Costeff Optic Atrophy syndrome, is a neuro-ophthalmologic syndrome of early-onset bilateral optic atrophy and later-onset spasticity, and extrapyramidal dysfunction.
Christina Lam +8 more
doaj +1 more source
The clinical profile of childhood optic neuritis [PDF]
Arquivos de Neuro-Psiquiatria, 2001 PURPOSE: To report the clinical features and outcome of a series of children with optic neuritis. METHODS: We reviewed the medical records of patients up to 16 years old with optic neuritis. Group 1 comprised children seen up to two weeks after the onset
Marco Aurélio Lana-Peixoto +1 more
doaj +1 more source
Visual pathway function and structure in Wolfram syndrome: Patient age, variation and progression [PDF]
, 2018 Background/aimsTo report alterations in visual acuity and visual pathway structure over an interval of 1–3 years in a cohort of children, adolescents and young adults who have Wolfram syndrome (WFS) and to describe the range of disease severity evident ...
Al-Lozi, Amal +6 more
core +2 more sources
Melanopsin-expressing retinal ganglion cells are resistant to cell injury, but not always [PDF]
, 2017 Melanopsin retinal ganglion cells (mRGCs) are intrinsically photosensitive RGCs deputed to non-image forming functions of the eye such as synchronization of circadian rhythms to light-dark cycle.
Carelli, Valerio +7 more
core +1 more source