ライフサイエンスコーパス: optic atrophy

1 of axonal degeneration in CMT2A and dominant optic atrophy.

2 the most common cause of autosomal dominant optic atrophy.

3 ion components as seen in Leber's hereditary optic atrophy.

4 autoimmune diabetes mellitus and progressive optic atrophy.

5 ilies with primary axonal polyneuropathy and optic atrophy.

6 amilial juvenile-onset diabetes mellitus and optic atrophy.

7 venile-onset diabetes mellitus and bilateral optic atrophy.

8 strabismus, amblyopia, macular dragging, and optic atrophy.

9 ) was significantly associated with eventual optic atrophy.

10 osis and dementia and NR2F1 for deafness and optic atrophy.

11 der characterized by ataxia, dysarthria, and optic atrophy.

12 ane fusion gene Opa1 often cause the disease optic atrophy.

13 um of phenotypes, from isolated to syndromic optic atrophy.

14 ization was observed, although one developed optic atrophy.

15 optimal cutoff of GCL volume consistent with optic atrophy.

16 entify a genetic model of autosomal dominant optic atrophy.

17 defined by early-onset diabetes mellitus and optic atrophy.

18 Leigh syndrome, including the development of optic atrophy.

19 10 of those eyes; 7 of them had glaucomatous optic atrophy.

20 as loss of retinal ganglion cells indicated optic atrophy.

21 51 with glaucoma and 76 with nonglaucomatous optic atrophy.

22 ary to apparently non-progressive congenital optic atrophy.

23 ive fashion a childhood onset neuropathy and optic atrophy.

24 eripapillary and macular regions, as well as optic atrophy.

25 on in GRN developed retinal degeneration and optic atrophy.

26 ral and inferior retinal regions, as well as optic atrophy.

27 onset spastic paraplegia, spinal lesion, and optic atrophy.

28 s include leukodystrophy, cardiomyopathy and optic atrophy.

29 implicated in a form of spastic ataxia with optic atrophy.

30 performed in isolated, sporadic, or familial optic atrophies.

31 ously reported that mice lacking the protein optic atrophy 1 (OPA1 BKO) in brown adipose tissue (BAT)

32 Synergistically, optic atrophy 1 (Opa1) also regulates CoMIC via controll

33 itment of DRP1 and down-regulating fusogenic optic atrophy 1 (OPA1) and mitofusins in rat gastric muc

34 ted by the master regulator of cristae shape optic atrophy 1 (OPA1) as critical for BH3 mimetics resi

35 sion, and the mitofusins (MFN1 and MFN2) and optic atrophy 1 (OPA1) driving membrane fusion.

36 the role of the mitochondrial fusion protein optic atrophy 1 (OPA1) in differentiated skeletal muscle

37 encing the inner membrane-associated dynamin optic atrophy 1 (OPA1) in fission deficiency prevented m

38 The mechanochemical GTPase optic atrophy 1 (OPA1) influences the architecture of cr

39 Optic atrophy 1 (OPA1) is a dynamin protein that mediate

40 The protein optic atrophy 1 (OPA1) is a dynamin-related protein asso

41 Optic atrophy 1 (OPA1) is a mitochondrial dynamin-like G

42 Optic atrophy 1 (OPA1) is a mitochondrial fusion protein

43 ported that the mitochondrial fusion protein optic atrophy 1 (OPA1) is required for induction of fatt

44 h the mitochondrial fusion promoter M1 or by optic atrophy 1 (OPA1) overexpression resulted in the re

45 of the mitochondrial dynamin-related protein Optic Atrophy 1 (OPA1) regulates cristae remodeling, cyt

46 Optic atrophy 1 (OPA1) regulates IMM fusion, prevents ap

47 unidentified C-terminal fragments (CTFs) of Optic atrophy 1 (Opa1), a mitochondrial GTPase that regu

48 al fusion, controlled by Mitofusin (mfn) and Optic atrophy 1 (opa1), and mitochondrial fission, contr

49 ndrial cristae biogenesis and fusion protein optic atrophy 1 (Opa1), retinal ganglion cell (RGC) dysf

50 suppressed in cells lacking mitofusin 1 and optic atrophy 1 (OPA1), the key proteins for mitochondri

51 uing that MFN2 shows functional overlap with optic atrophy 1 (OPA1), the protein underlying the most

52 T cell-specific deletion of optic atrophy 1 (OPA1), which regulates inner mitochondr

53 , including the mitochondrial fusion protein optic atrophy 1 (OPA1).

54 ane dynamin family GTPases mitofusin 1/2 and optic atrophy 1 (Opa1).

55 elated protein 1 (Drp1), mitofusion 1/2, and optic atrophy 1 (OPA1).

56 fn1 (mitofusin 1), Mfn2 (mitofusin 2), Opa1 (optic atrophy 1) and Tomm40.

57 d expression of the pro-fusion protein OPA1 (optic atrophy 1) increased, whereas expression of the pr

58 and altered proteolytic processing of OPA1 (optic atrophy 1).

59 ltered mitochondrial activity, cleavage of L-optic atrophy 1, and mitochondrial fragmentation.

60 levels of the mitochondrial fusion protein, optic atrophy 1.

61 y absent in flies lacking the fusion protein optic atrophy 1.

62 s (DRP-1 [dynamin-related protein 1], OPA-1 [optic atrophy 1], and MFN 2 [mitofusin 2]), and oxidativ

63 ive stress induces an N-terminal cleavage of optic atrophy-1 (OPA1), a dynamin-like GTPase that regul

64 cs (44%), isolated optic neuritis (19%), and optic atrophy (12%).

65 visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tu

66 elderly patients, while albinism (24.4%) and optic atrophy (24.4%) were the commonest in children.

67 yndrome, which is caused by mutations in the OPTIC ATROPHY 3 (OPA3) gene, is an early-onset syndrome

68 amination (78.79%); the rarest was LHON-like optic atrophy (3.64%); and optic atrophy with concurrent

69 coma) and 21 of 70 eyes with nonglaucomatous optic atrophy (30%) (5 optic neuritis, 11 anterior visua

70 7%), refractive error and amblyopia (12.1%), optic atrophy (6.4%), phthisis bulbi (6.4%), aphakia (5.

71 s (8/12 [67%]), strabismus (5/12 [42%]), and optic atrophy (6/12 [50%]).

72 es (100%), global developmental delay (94%), optic atrophy (83%), sensorineural hearing loss (78%), a

73 A1 gene are the prevailing cause of dominant optic atrophy, a hereditary disease in which progressive

74 OPA1 is mutated in dominant optic atrophy, a neurodegenerative disease of the optic

75 ion is the cause of human autosomal dominant optic atrophy (ADOA) and Charcot-Marie-Tooth syndrome ty

76 tic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mutant mitochondrial

77 Autosomal dominant optic atrophy (ADOA) is the most prevalent hereditary op

78 Autosomal dominant optic atrophy (ADOA) starts in early childhood with loss

79 Autosomal dominant optic atrophy (ADOA), a form of progressive bilateral bl

80 Mutations in OPA1 lead to autosomal dominant optic atrophy (ADOA), an important cause of inherited bl

81 In autosomal dominant optic atrophy (ADOA), caused by mutations in the mitocho

82 -qter are associated with autosomal dominant optic atrophy (ADOA), the most common inherited optic ne

83 iagnosing and phenotyping autosomal-dominant optic atrophy (ADOA).

84 eated patients, 34 (75.5%) presented with an optic atrophy after a median of 12.5 months (1-55 months

85 8 observed patients, 41 (85.4%) developed an optic atrophy after a median of 14 months (3-86 months)

86 The association of neuropathy and optic atrophy (also known as CMT type 6) has been descri

87 otential causative variants in patients with optic atrophy, also performing comprehensive clinical as

88 cessive condition characterized by infantile optic atrophy, an early onset movement disorder, and 3-m

89 pe 2A, a peripheral neuropathy, and dominant optic atrophy, an inherited optic neuropathy, result fro

90 tant role of mitochondrial function for both optic atrophies and peripheral neuropathies.

91 a and nystagmus, sensorineural hearing loss, optic atrophy and bulbar dysfunction.

92 ases in humans: autosomal dominant inherited optic atrophy and cataract (ADOAC) and a metabolic condi

93 5A46 strengthens the genetic overlap between optic atrophy and CMT2 while exemplifying a new class of

94 By whole-exome sequencing of patients with optic atrophy and CMT2, we identified four families with

95 predominant sensorimotor axonal neuropathy, optic atrophy and cognitive deficit.

96 ), as well as additional genes implicated in optic atrophy and complex strabismus (10 genes).

97 e genetic disease characterized by diabetes, optic atrophy and deafness.

98 diagnostic criteria for WFS2 also consist of optic atrophy and diabetes mellitus, but unlike WFS1, th

99 erative disease characterized by early-onset optic atrophy and diabetes mellitus, which can be associ

100 ry neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.

101 at deep intronic mutations in OPA1 can cause optic atrophy and explain disease in a substantial share

102 duced hair cell numbers, consistent with the optic atrophy and hearing impairment observed in human p

103 drome that consists of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal

104 and most recognised phenotypes are dominant optic atrophy and Leber hereditary optic neuropathy.

105 pathway due to ischemia typically results in optic atrophy and loss of retinal ganglion cells.

106 is defined by juvenile diabetes mellitus and optic atrophy and may include progressive hearing loss a

107 excretion of 3-methylglutaconic acid (MGC), optic atrophy and movement disorders, including ataxia a

108 mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN).

109 cted whole-exome sequencing of patients with optic atrophy and other neurological signs of mitochondr

110 strength of the lower limbs), hearing loss, optic atrophy and respiratory insufficiency.

111 cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventil

112 Severity of optic atrophy and RNFL loss varied between animals from

113 ix HMSN VI families with a subacute onset of optic atrophy and subsequent slow recovery of visual acu

114 rders included; refractive errors, pterygia, optic atrophy and vitamin A deficiency.

115 Optic atrophy and vocal cord palsy were observed in pati

116 ies presented with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on

117 elated macular degeneration (AMD), glaucoma, optic atrophy, and cataract decreased until 2014, and re

118 OAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) became a commonly accepted

119 ized by insulin-dependent diabetes mellitus, optic atrophy, and deafness.

120 's hereditary optic neuropathy and Kjer-type optic atrophy, and disorders of ocular motility, such as

121 ing gender, the presence of papillary edema, optic atrophy, and ICP rise with the presence of PVD (P

122 dividuals had an onset in early infancy with optic atrophy, and in four patients anemia was present a

123 g the most common form of autosomal dominant optic atrophy, and mitochondrial encoded oxidative phosp

124 mbination of early-onset spastic paraplegia, optic atrophy, and neuropathy.

125 order characterized by diabetes mellitus and optic atrophy, and often, deafness.

126 tion, hypotonia, sensorineural hearing loss, optic atrophy, and other features.

127 evelopmental delay, poor visual contact with optic atrophy, and postnatal microcephaly.

128 escribes monozygotic male twins with ptosis, optic atrophy, and recent-onset intractable myoclonic ep

129 ism, cerebellar ataxia-areflexia-progressive optic atrophy, and relapsing encephalopathy with cerebel

130 variety of eye diseases including glaucoma, optic atrophy, and retinal degeneration--defects in mito

131 udes attenuation of the retinal vasculature, optic atrophy, and retinal pigment epithelium loss.

132 The cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) sy

133 neurological dysfunctions, including ataxia, optic atrophy, and sensorineural hearing loss.

134 al delay, intellectual disability, seizures, optic atrophy, and spastic quadriplegia.

135 , amblyopia (aOR = 1.12-1.61, P = .002), and optic atrophy (aOR = 1.01-1.32, P = .045) than infants n

136 iplegia (aOR, 28.48), neuralgia (aOR, 4.81), optic atrophy (aOR, 3.74), paralytic strabismus (aOR, 2.

137 tinal vessel attenuation, pigment spots, and optic atrophy appeared in the fundus at 4 weeks of age.

138 may contribute to RGC neurodegeneration and optic atrophy are tackled in an integrated way, consider

139 t-Marie-Tooth type 2A and autosomal dominant optic atrophy, are caused by mutations in mitofusin 2 an

140 (15%) with autosomal recessive nonsyndromic optic atrophy (arNSOA) and in 8 patients with autosomal

141 reatment has resulted in amblyopia replacing optic atrophy as the main cause of visual impairment in

142 xperienced poor visual recovery ( 6/60) with optic atrophy as the major cause.

143 loss, progressive hearing loss, and isolated optic atrophy associated with hearing loss.

144 All affected individuals presented optic atrophy, associated with foveopathy in half of the

145 d into three categories: the most common was optic atrophy at examination (78.79%); the rarest was LH

146 t neurodegenerative disease with progressive optic atrophy, ataxia, and myopathy.

147 il and cranial nerve abnormalities, frequent optic atrophy, autonomic neuropathy and upper and lower

148 pe of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardi

149 Surveillance for optic atrophy by GCL volume may be useful in a populatio

150 ge consanguineous family with neuropathy and optic atrophy carrying a loss of function mutation in th

151 erized by childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus and neurolog

152 yses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and inconti

153 cant differences related to visual acuity or optic atrophy development from patients who underwent on

154 m Syndrome 2 (WFS2) resulting in early onset optic atrophy, diabetes mellitus, deafness and decreased

155 GTPase OPA1 is mutated in autosomal dominant optic atrophy (DOA) (Kjer type), an inherited neuropathy

156 lled 49 patients with LHON, 19 with Dominant Optic Atrophy (DOA) and 22 healthy controls.

157 Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Ch

158 majority of patients with autosomal dominant optic atrophy (DOA) harbor pathogenic OPA1 mutations and

159 Autosomal dominant optic atrophy (DOA) is a retinal neuronal degenerative d

160 Dominant optic atrophy (DOA) is the commonest form of inherited o

161 Autosomal dominant optic atrophy (DOA) is the most common form of hereditar

162 Autosomal dominant optic atrophy (DOA) is the most common inherited optic n

163 sual and pupil afferent function in dominant optic atrophy (DOA).

164 e associated with isolated forms of Dominant Optic Atrophy (DOA).

165 taxia, tremor, cognitive decline, dysphagia, optic atrophy, dysarthria, as well as urinary and bowel

166 ary retinopathy) and 6 of 76 nonglaucomatous optic atrophy eyes (7.9%) (1 retinal vasculitis, 3 papil

167 unmasking of the large choroidal vessels and optic atrophy; fluorescein angiography revealed gradual

168 mutations in SSBP1 cause a form of dominant optic atrophy frequently accompanied with foveopathy bri

169 Opa1(+/-) mouse model of autosomal dominant optic atrophy from as early as 10 months of age.

170 d was over four times higher in the dominant optic atrophy + group compared to the pure optic neuropa

171 MT) neuropathy with visual impairment due to optic atrophy has been designated as hereditary motor an

172 ts causing either Leigh syndrome or isolated optic atrophy, hinting at possible disease-specific mole

173 hthalmological assessment revealed bilateral optic atrophy in both patients.

174 e disorder presented with visual failure and optic atrophy in childhood, followed by PEO, ataxia, dea

175 in FDXR cause a novel mitochondriopathy and optic atrophy in humans.

176 p11.21 in three large families with isolated optic atrophy, including the two families that defined t

177 rons, and it also suppressed visual loss and optic atrophy induced by a mutant ND4 homolog.

178 ng age, gender, presence of papillary edema, optic atrophy, intracranial pressure (ICP) rise, and pre

179 Dominant optic atrophy is a blinding disease due to the degenerat

180 Early onset bilateral optic atrophy is a common characteristic of both disorde

181 ear CI genes for which an insidious onset of optic atrophy is also reported, and in some cases the sa

182 Dominant optic atrophy is one of the leading causes of childhood

183 The gene responsible for dominant optic atrophy is the OPA1 gene located on chromosome 3.

184 order characterized by diabetes mellitus and optic atrophy, is caused by mutations in the WFS1 gene e

185 pathophysiology of RGC neurodegeneration and optic atrophy, is key to broadly understanding the patho

186 guanosine triphosphatase mutated in dominant optic atrophy, is required for the fusion of mitochondri

187 1(Q285STOP), which models autosomal dominant optic atrophy, leads to a 50% reduction in Opa1 transcri

188 asticity, muscle wasting, dysmorphic facies, optic atrophy, leuko-axonopathy with hypomyelination, an

189 In contrast, dominant optic atrophy-linked mutant Mid51, which does not inhibi

190 The rapidly-developing optic atrophy makes the Vglut2-Cre;ndufs4(loxP/loxP) mou

191 In contrast to mutations causing non-lethal optic atrophy, missense mutations causing lethal congeni

192 (LHON) was produced by introducing the human optic atrophy mtDNA ND6 P25L mutation into the mouse.

193 tions have been linked to seizures, strokes, optic atrophy, neuropathy, myopathy, cardiomyopathy, sen

194 Optic atrophy, nystagmus, and dystonia were more variabl

195 lower macular GCL volume was associated with optic atrophy on fundus examination (P < 0.001), Apert s

196 nalysis confirmed that only OSA (P = 0.005), optic atrophy on fundus examination (P = 0.003), and wor

197 ndrial assembly regulatory factor (MARF) and optic atrophy (Opa)1.

198 ormal, although optic nerve alterations like optic atrophy or papilledema have been described.

199 th weight, gestational age, acute-phase ROP, optic atrophy, or retinal residua of ROP, but was relate

200 e, schizophrenia, epilepsy, cancer, dominant optic atrophy, osteoporosis, and Down's syndrome.

201 scarring (p = 0.001) and 14-fold higher with optic atrophy (p < 0.001), respectively.

202 inal pigment epithelial atrophy (P < 0.001), optic atrophy (P < 0.001), vascular attenuation (P < 0.0

203 The rates of optic atrophy (P = .79), strabismus (P = .98), and myopi

204 mutated in patients with autosomal-recessive optic atrophy, participates directly in the assembly of

205 ctivity and that SSBP1 mutations in dominant optic atrophy patients do not permit stable binding to N

206 cephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a rare Mendelian phenot

207 ephalopathy with oedema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is an early childhood onse

208 cephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome.

209 Iraqi-Jewish optic atrophy plus is an autosomal recessive condition c

210 Individuals with dominant optic atrophy plus phenotypes also had significantly wor

211 1 modifier variant explains the emergence of optic atrophy plus phenotypes if combined in trans with

212 ients identified a second family with severe optic atrophy plus syndrome due to compound heterozygous

213 -depth investigation of a family with severe optic atrophy plus syndrome in which conventional OPA1 d

214 , which explains the emergence of syndromic 'optic atrophy plus' phenotypes in several families.

215 , the frequency of these syndromal 'dominant optic atrophy plus' variants and the extent of neurologi

216 n electron micrographs were used to evaluate optic atrophy postmortem.

217 f an autosomal-recessive spastic ataxia with optic atrophy, present among the Old Order Amish, identi

218 with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growt

219 with calcification, cataracts, microcornea, optic atrophy, progressive joint contractures, and growt

220 caused by mutations of the gene that encodes optic atrophy protein 1 (OPA1), a protein that has a key

221 s not cause processing of the fusion protein optic atrophy protein 1 (Opa1), despite inducing a decre

222 through cleavage of structural protein OPA1 (optic atrophy protein 1).

223 membrane fusion and cristae shape depend on optic atrophy protein 1, OPA1.

224 >C can also cause the unusual combination of optic atrophy, ptosis, and encephalomyopathy leading to

225 Optic atrophy resulting from retinal ganglion cell (RGC)

226 progressive microcephaly with brachycephaly, optic atrophy, seizures, and hypertonia with hyperreflex

227 ism or cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss (CAPOS), and no

228 accessory subunit NDUFS4 develop early-onset optic atrophy, severe systemic mitochondrial dysfunction

229 Normal tension glaucoma and dominant optic atrophy share many overlapping clinical features,

230 We report an optic atrophy spectrum disorder, including retinal macul

231 mitochondrial protein recently implicated in optic atrophy spectrum disorder.

232 to rare syndromic multisystem diseases with optic atrophy such as mitochondrial encephalomyopathies,

233 severe multisystemic symptoms in addition to optic atrophy, suggesting pathogenic contributions for t

234 Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been identified as a

235 ations in OPA3 have been reported in Costeff optic atrophy syndrome.

236 e more frequent in pediatric nonglaucomatous optic atrophy than glaucoma; they are associated with wo

237 n implicated in autosomal recessive forms of optic atrophy that involve progressive degeneration of o

238 gnitive deficits, pyramidal tract damage and optic atrophy, thus demonstrating susceptibility of seve

239 The gene mutated in DOA, Optic Atrophy Type 1 (OPA1), encodes a dynamin-related G

240 mitochondrial inner membrane fusion protein optic atrophy type 1, and components of the oxidative ph

241 erebellar ataxia type 28 (SCA28) or dominant optic atrophy type 12 (DOA12), while biallelic AFG3L2 mu

242 Optic atrophy, vocal cord palsy, and auditory impairment

243 Optimal cutoff identifying optic atrophy was a GCL volume < 1.02 mm(3) with a sensi

244 Investigation of optic atrophy was initiated only after genetic analysis,

245 oth were uncommon (3% and 5%, respectively), optic atrophy was noted in 10%, median refraction was mi

246 Optic atrophy was present in 100% of patients with WS.

247 dren with either glaucoma or nonglaucomatous optic atrophy were retrospectively reviewed.

248 pectrum of WS includes diabetes mellitus and optic atrophy which is often accompanied by diabetes ins

249 CI subunits in this cohort lead to isolated optic atrophy, while defects in accessory CI subunits an

250 est was LHON-like optic atrophy (3.64%); and optic atrophy with concurrent retinal degeneration (17.5

251 iatal cholinergic interneuron loss; and (iv) optic atrophy with delamination of the lateral geniculat

252 tient had steroid-responsive vision loss and optic atrophy with inflammatory cerebrospinal fluid.

253 l system and that its disruption can lead to optic atrophy with intellectual disability.

254 ns in OPA3 should be sought in patients with optic atrophy with later onset, even in the absence of a

255 resented with bilateral temporal-predominant optic atrophy with various degree of visual impairment.