optic atrophy
Dominant optic atrophy
... optic atrophy. Thus, facing a multisystemic mitochondrial syndrome with optic atrophy it is important to check for OPA1 mutations, but many other mitochondrial diseases not related to OPA1 can ...
12
ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
... isolated optic atrophy (OPA9), 2 complex ataxia without optic atrophy, 4 and now spastic paraplegia and optic atrophy with survival into adulthood (figure, ...
6
A clinical and molecular genetic study of dominant optic atrophy mapping to chromosome 3q28-qter / m
... due to the lack of available material to study. There is no evidence for inflammation in the optic nerves of patients with dominant optic atrophy, which is a feature characteristic of cell death by ...
377
Acute visual loss and optic disc edema followed by optic atrophy in two cases with deeply buried optic disc drusen: a mimicker of atypical optic neuritis
... edema resolved and was followed by severe optic atrophy. Neurologic examination, brain and orbits computerized tom- ography and magnetic resonance imaging (MRI) scans, cere- brospinal fluid (CSF) analysis ...
6
Zinc Deficiency, Acrodermatitis Enteropathica, Optic Atrophy, Subacute Myelo-optic Neuropathy, and 5,7-Dihalo-8-quinolinols
... A few cases of optic atrophy were reported in surviving patients and were proposed as examples of ocular drug toxicity, pnn- cipally because of the association between iodochlorhy- droxy[r] ...
6
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
... by optic atrophy with pure partial mtDNA depletion, without coexisting multiple ...Interestingly, optic atrophy most probably is a congenital or child hoodonset reduction of axons that ...
19
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
... Identification of mutations in SSBP1 in families with dominant optic atrophy. We performed whole exome sequencing (WES) in one French family (family A) including multiple patients with ADOA to identify the ...
15
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
... age. Optic atrophy was noted in 7/9 (78%) patients who underwent funduscopic ...have optic atrophy did not have testing of visual evoked ...examinations, optic atro- phy was noted to ...
10
Deletion of mitochondrial DNA in a case of early onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)
... Here we report on a severe respiratory enzyme deficiency in a patient with the Wolfram syndrome-diabetes insipidus, diabetes mellitus, optic atrophy, and deafness DIDMOAD, MIM 222300 6-a[r] ...
5
Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics
... the optic nerve to the ...dominant optic atrophy (DOA; OMIM: #165500) caused by hetero- zygous sequence variants in optic atrophy gene 1 (OPA1; OMIM: *605290) in the light of the ...
12
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
... However, optic at- rophy was evident in all the other OPA1 -mutant sub- jects, being often the first and main symptom; in contrast, in our patients overt optic atrophy was ob- served later compared ...
10
Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA)
... It appears that the diffuse leukoencephalopathy associ- ated with DRPLA is more common in patients with a greater number of CAG repeats and is more common in older DRPLA sufferers [7, 8, 13]. White matter degener- ation ...
5
OPTIC ATROPHY IN CHILDHOOD
... Two children, ages 7 and 13 years, pre- sented with unilateral visual loss, optic. atrophy with central scotomas, with his-[r] ...
12
Optic Atrophy Following Treatment With Diiodohydroxyquin
... ABSTRACT. Permanent severe bilateral optic atrophy was detected in a 3%-year-old white child with an unusual type of colitis following oral administration of duiodohydroxyquin, 1,950 mg [r] ...
5
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
... Author Drafting/revising the manuscript for content; Major role in acquisition of data; Study concept or design; Analysis/ interpretation of data.. Fion Bremner, FRCOphth, PhD.[r] ...
11
Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?
... the right optic pathway, while the electroretinogram re- sulted normal. Audiological examinations were normal. Borderline TSH values with normal thyroid function were recorded during hospitalization, but no ...
6
Optic Atrophy Induced by Vincristine
... Vincristine sulfate and the other ymca alkaloids are antitubulins.’ Neurofibrifiary degeneration, with loss of neurotubules and accumulation of neu- rofflaments, occurs in intact organis[r] ...
6
PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings
... Eight patients age 0.1-1.2 years had mild or moderate cerebellar or brain stem atrophy in the first study , and an axial CT scan showed a connection between the fourth ventricle and an e[r] ...
6
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations
... Compared to the reduced OPA1 protein levels seen in the patient fibroblasts, the siRNA achieved a more profound reduction (figure 2A), and knockdown cells underwent fragmentation and per[r] ...
13
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
... Phosphoribosyl pyrophosphate synthetase 1 (PRS-I, [MIM 311850]) is an ubiquitous enzyme with an essential role in nucleotide metabolism: it catalyzes the synthesis of phos- phoribosyl pyrophosphate (PRPP), the substrate ...
9