ライフサイエンスコーパス: coloboma

1 but fail to close the optic fissure (retinal coloboma).

2 out in 30 eyes of 20 patients with choroidal coloboma.

3 re to fuse properly, resulting in persistent coloboma.

4 -Ras-ERK signaling axis in preventing ocular coloboma.

5 hypertelorism, nystagmus, and chorioretinal coloboma.

6 h closely resembles that seen in human uveal coloboma.

7 segment disorders such as microphthalmia and coloboma.

8 deleted in the one family segregating ocular coloboma.

9 enes have been found in few individuals with coloboma.

10 clinical observations in patients with uveal coloboma.

11 n family with cataract, microcornea and iris coloboma.

12 scribe the OCT features at the margin of the coloboma.

13 7 patients (0.34%) were diagnosed with uveal coloboma.

14 non-syndromic hearing loss, or isolated eye coloboma.

15 pathways for developmental tissue fusion and coloboma.

16 d be implicated in the development of ocular coloboma.

17 rstanding of the complex aetiology of ocular coloboma.

18 ber of human birth defects, including ocular coloboma.

19 l microphthalmia and bilateral chorioretinal coloboma.

20 , including anophthalmia, microphthalmia and coloboma.

21 egregate with autosomal dominantly inherited coloboma.

22 ave microphthalmic eyes with a large ventral coloboma.

23 se gives rise to an ocular disorder known as coloboma.

24 family with autosomal dominant non-syndromic coloboma.

25 the human optic fissure and pathogenesis of coloboma.

26 chorioretinal atrophy and congenital retinal coloboma.

27 ts lack a subset of RPE cells and/or exhibit coloboma.

28 ventral fissure fails to close resulting in coloboma.

29 tion results in a novel underlying cause for coloboma.

30 to be related to the extent of the choroidal coloboma.

31 pithelium at the edge of the retinochoroidal coloboma.

32 rior tumor associated with a retinochoroidal coloboma.

33 congenital vision impairment in the form of coloboma.

34 and nerve dysgenesis and, ultimately, ocular coloboma.

35 oculocutaneous albinism, microphthalmia, and colobomas.

36 results in enhanced Hh pathway activity and colobomas.

37 Failure of CF closure results in colobomas.

38 e limbal dermoids (2 cases), lateral canthal coloboma (3 cases), and facial nerve palsy (1 case).

39 lack of choroid fissure closure (known as a coloboma), a loss of optic nerve astrocytes, and anomalo

40 fusion of the optic fissure leads to ocular coloboma, a congenital eye defect that affects up to 7.5

41 the eye, Pax2 deficiency is associated with coloboma, a loss of astrocytes in the optic nerve and re

42 entral optic cup results in the formation of colobomas, a condition typically associated with a loss

43 is characterized by the presence of retinal colobomas, a paucity of retinal ganglion cells, and axon

44 s underlying closure in the human embryo and coloboma aetiology remains poorly understood.

45 Uveal coloboma affected only the anterior segment in 8 patient

46 Anophthalmia, microphthalmia and coloboma (AMC) comprise a spectrum of developmental eye

47 Anophthalmos, microphthalmos, and typical coloboma (AMC) form an interrelated spectrum of congenit

48 stage and eye defects including optic nerve coloboma and absence of ocular muscles.

49 at include congenital cataract, microcornea, coloboma and anterior segment dysgenesis.

50 Microphthalmia, coloboma and cataract are part of a spectrum of developm

51 enidate increased locomotor activity in both coloboma and control mice.

52 ime in patients with Dup22q11.2, optic nerve coloboma and dysplasia in optic nerve.

53 lar findings in Dup22q11.2 syndrome, such as coloboma and dysplasia in the optic nerve, are reported

54 craniofacial dysmorphic features, choroidal coloboma and endoderm-derived organ malformations in liv

55 1) the optic disks fail to close, leading to coloboma and loss of the eye-nerve boundary; (2) optic n

56 ously showed that Fz5(-/-) mice exhibit mild coloboma and microphthalmia at ~50% penetrance.

57 ssion of the resultant mutant protein caused coloboma and microphthalmia in zebrafish, and disruption

58 he triallelic mutant develops severe retinal coloboma and microphthalmia with full penetrance.

59 t NTN1 is a strong candidate locus for human coloboma and other multi-system developmental fusion def

60 Microphthalmia, coloboma and persistent fetal vasculature within the vit

61 sence of an open fetal fissure, showing that coloboma and retinal folding represent distinct VAD-depe

62 In contrast to the differences between coloboma and wild-type mice, there was no significant di

63 d in the dentate gyrus of SNAP-25 transgenic coloboma and wild-type mice.

64 wout mutants develop unilateral or bilateral colobomas and as a result, the retina and retinal pigmen

65 terized by kidney abnormalities, optic nerve colobomas and mild sensorineural deafness.

66 mitfa;tfec mutants possess severe colobomas and our data demonstrate that Mitf activity is

67 had a chorioretinal scar with iris and lens coloboma, and 1 child had a chorioretinal scar.

68 included a saucer-shaped optic cup, ventral coloboma, and a deficiency of periocular mesenchyme.

69 Exencephaly, coloboma, and abnormal proliferation in humdy embryos ar

70 pectively for demographic profile, extent of coloboma, and associated lenticular changes.

71 types (curved body shape, retinal dystrophy, coloboma, and decreased cilia) in a CRISPR/Cas9-engineer

72 conclude that cardiovascular malformations, coloboma, and facial asymmetry are common findings in CH

73 t syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects.

74 lies such as corneal opacity/Peters anomaly, coloboma, and microcornea; dysmorphic facial features; s

75 The most common type is retino-choroidal coloboma, and more than one-third of the eyes are affect

76 ens dysgenesis, retinal folds, chorioretinal coloboma, and Peters anomaly.

77 in morning glory syndrome (MGS), optic disc colobomas, and optic disc pits, and to explore possible

78 While most cases of coloboma are sporadic, autosomal dominant, autosomal rec

79 deletion results in transient small lens and coloboma as well as midbrain anomalies in zebrafish, and

80 fect of the iris, posterior embryotoxon, and coloboma, as well as foveal anomaly.

81 osis of congenital iridolenticular choroidal coloboma between January 2011 and December 2012 were rev

82 o be mutated in a subset of individuals with colobomas, but how MITF functions during CF closure is u

83 A distinct type of cataract, called "coloboma cataract" (characterized by linear opacity in t

84 distinct description with the nomenclature "coloboma cataract" to be considered in the clinical grad

85 teristic associated anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distin

86 s were located at the temporal margin of the coloboma closest to the macula.

87 al margin of retinochoroidal and optic nerve colobomas closest to the fovea has not been established

88 o mouse chromosome 2, in the vicinity of the Coloboma ( Cm ) deletion.

89 EEG analysis of Coloboma (Cm/+), an autosomal dominant mutant mouse lack

90 The mouse mutant coloboma (Cml+) exhibits profound spontaneous locomotor

91 tic fissure, causing exencephaly and retinal coloboma, common birth defects.

92 l kinks), craniofacial and ocular anomalies (colobomas, corneal opacities).

93 ging from delayed RPE pigmentation to severe coloboma, depending on the combination of Otx factors th

94 ients with microphthalmia, anophthalmia, and coloboma disease without a recognized syndromic etiology

95 re defects, resulting in microphthalmia with coloboma, disturbed lamination, and mislocalization of a

96 nds exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of CHARGE sy

97 Microphthalmia, anophthalmia, and coloboma form an interrelated spectrum of congenital eye

98 molecules and cellular mechanisms underlying coloboma formation.

99 with CNV and retinochoroidal and optic nerve coloboma from 1995-2015 who underwent OCT imaging using

100 five individuals with microphthalmia and/or coloboma from four independent families carrying homozyg

101 es and probe the expression profile of known coloboma genes, along with a comparative murine analysis

102 Although some patients with coloboma had evidence of extraocular abnormalities, the

103 hood of developmental delay in children with coloboma has not been well-studied.

104 proband, presenting with microphthalmia and coloboma, has a likely pathogenic missense variant (c.33

105 ple anomaly disorder characterized by ocular Coloboma, Heart defects, Atresia of the choanae, Retarde

106 le anomaly condition characterized by ocular coloboma, heart defects, atresia of the choanae, retarde

107 syndrome, 22q11.2 deletion syndrome, CHARGE (coloboma, heart defects, choanal atresia, growth or ment

108 so named for its cardinal features of ocular coloboma, heart defects, choanal atresia, growth retarda

109 identified in patients with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growt

110 th a variety of phenotypes, including ocular coloboma, heart defects, choanal atresia, retarded growt

111 Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation

112 CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, ment

113 ns can cause ocular abnormalities, including coloboma, however, its actual role in OF closure is unkn

114 enetic alterations have been associated with coloboma; however, molecular mechanisms leading to colob

115 ilies with autosomal-dominant inheritance of coloboma identified two different cosegregating heterozy

116 ormalities in 8 eyes (47.1%), bilateral iris coloboma in 1 patient (2 eyes [11.8%]), and lens subluxa

117 in 8049 patients (84.22%), followed by iris coloboma in 2129 patients (22.28%).

118 and combined optic nerve and retinochoroidal coloboma in 6 eyes.

119 The most common type was retino-choroidal coloboma in 8049 patients (84.22%), followed by iris col

120 Patients with a clinical diagnosis of uveal coloboma in at least 1 eye were included as cases.

121 ively active Ras signaling can rescue ocular coloboma in the FGF signaling mutants.

122 iency is likely to be responsible for ocular coloboma in this family.

123 omalies in zebrafish, and microphthalmia and coloboma in Xenopus tropicalis.

124 Moreover, colobomas in blowout could be suppressed by pharmacologi

125 light on the cellular mechanisms underlying colobomas in individuals with MITF mutations and identif

126 ng the Hh pathway with cyclopamine prevented colobomas in ptch2(uta1) mutant embryos.

127 characteristic of CHARGE syndrome, including coloboma, inner and outer ear malformations, heart outfl

128 Ocular coloboma is a common eye malformation resulting from inc

129 Coloboma is a complex disorder with a variable prognosis

130 Ocular coloboma is a congenital eye malformation, resulting fro

131 The mouse mutation coloboma is a contiguous gene defect that leads to elect

132 ource to a pertinent developmental context - coloboma is a structural eye malformation characterised

133 edges of the fissure.SIGNIFICANCE STATEMENT Coloboma is an ocular disorder that may result in a loss

134 Congenital iridolenticular choroidal coloboma is associated with early cataractous changes.

135 dominant human disorder in which optic disc coloboma is associated with kidney abnormalities.

136 Uveal coloboma is more common in male individuals and is predo

137 Coloboma is often associated with microphthalmia and/or

138 frequently observed defect is an optic stalk coloboma leading to the misdifferentiation of the optic

139 Bilateral coloboma-like atrophic macular lesions were observed in

140 ssified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal dystrophies, collec

141 s known as microphthalmia, anophthalmia, and coloboma (MAC) are associated with alterations in genes

142 ysgenesis (ASD), microphthalmia-anophthalmia-coloboma (MAC), corneal dystrophies, and Axenfeld-Rieger

143 ASDA; 59 genes), microphthalmia-anophthalmia-coloboma (MAC; 86 genes), congenital cataracts and lens-

144 nterface included vitreous attachment at the coloboma margin (23.33%), vitreous condensation (6.67%),

145 Swept-source OCT of the coloboma margin revealed new features in addition to the

146 Swept-source OCT of the coloboma margin revealed various new features in additio

147 Uveal coloboma may be an isolated finding or present as part o

148 Coloboma mice also exhibit increased recurrent inhibitio

149 , markedly reduced the locomotor activity in coloboma mice but increased the activity of control mice

150 nt of SNAP-25 in the hyperactive behavior of coloboma mice, which can be ameliorated by the indirect

151 e but increased inhibition in non-transgenic coloboma mice.

152 Here we report on five individuals with coloboma, microcephaly, developmental delay, short statu

153 accompanied by ocular abnormalities such as coloboma, microphthalmia, or even anophthalmia.

154 ormations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation wi

155 ical coloboma, optic pit (and other atypical colobomas), morning glory anomaly, and extrapapillary ca

156 optic nerve anomalies, including optic nerve coloboma, morning glory disc, and peripapillary staphylo

157 results refine the observations made in the coloboma mouse mutant, a proposed mouse model of ADHD, a

158 pal synaptic circuitry of SNAP-25 transgenic coloboma mutant mice.

159 Analysis of one such coloboma mutant, uta(1), identified a splice-acceptor mu

160 tments were used to clone and characterize a coloboma mutant.

161 gmatogenous retinal detachment (n = 18; 3%), coloboma (n = 17; 3%), astrocytic hamartoma (n = 15; 2%)

162 , 46%), lens subluxation (n = 11, 27%), lens coloboma (n = 8, 20%), retrolental neoplastic cyclitic m

163 al degeneration) and in two models of ocular coloboma (noi(tu29a) and gup(m189); congenital optic fis

164 ases in which human patients have optic disc coloboma not associated with renal dysplasia.

165 42 in the mutation-negative group; P=.014), coloboma of the eye (55 of 62 in the mutation-positive g

166 CHD7, a causal locus in the CHARGE syndrome (coloboma of the eye, heart anomaly, atresia of the choan

167 by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choan

168 of the CHD7 gene associated with the CHARGE (coloboma of the eye, heart defects, atresia of the choan

169 e developmental disorders, including CHARGE (Coloboma of the eye, Heart defects, Atresia of the choan

170 trabismus, cataracts, juvenile glaucoma, and coloboma of the eyelid, iris, and lens.

171 by microcornea with increased axial length, coloboma of the iris and of the optic disc, and severe m

172 in this patient, included ptosis, esotropia, coloboma of the iris, retina, choroid and optic disc, an

173 rophthalmic OFCD, 32 (23%) nonmicrophthalmic coloboma (OFCD), 9 (6%) anophthalmic, and 5 (4%) were un

174 omalies of the optic disc, including typical coloboma, optic pit (and other atypical colobomas), morn

175 e affected by AMC, of which 153 had isolated coloboma or coloboma with microphthalmos.

176 h a concurrent anatomic abnormality, such as coloboma or microcornea, or a known family history of fa

177 ciated with CHARGE syndrome, retinochoroidal colobomas, or significant ear abnormalities.

178 Coloboma originates from defective fusion of the optic f

179 ndrome that we term COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, a

180 examined the rates of developmental delay in coloboma patients with syndromic vs nonsyndromic present

181 tages, however, noggin overexpression caused colobomas, pecten agenesis, replacement of the ventral R

182 erplastic primary vitreous, cataract, pseudo-coloboma, persistent hyaloid artery, and myopic or hyper

183 ptic fissure fusion, with a resultant ocular coloboma phenotype following morpholino antisense transl

184 n Xenopus tropicalis recapitulates an ocular coloboma phenotype, supporting its role in eye developme

185 show a substantial rescue of the Foxg1(-/-) coloboma phenotype, which correlates with a rescue in mo

186 wout that presents with a variably penetrant coloboma phenotype.

187 ected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as pro

188 condition of retinal dystrophy and bilateral coloboma, present in varying degrees in a large, five-ge

189 h drugs were found to reduce the size of the coloboma, providing molecular evidence that cell death i

190 fat1a mutations exhibit completely penetrant coloboma, recapitulating the most consistent development

191 ma; however, molecular mechanisms leading to coloboma remain largely unknown.

192 Uveal coloboma represents one of the most common congenital oc

193 Colobomas result from defects in optic stalk morphogenes

194 In the region of the coloboma, sclera and Tenon's capsule could also be analy

195 Ninety-nine patients with uveal coloboma seen at the National Eye Institute.

196 In addition, ocular coloboma segregated with disease in one family (oculo-ot

197 llectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial fea

198 rom the systemic evaluation of patients with coloboma should be interpreted with caution and in view

199 Coloboma shows extensive locus heterogeneity associated

200 transgene encoding SNAP-25 was bred into the coloboma strain to complement the Snap deletion, the hyp

201 opment and the main causative gene for renal coloboma syndrome (RCS).

202 Two families have been reported with renal-coloboma syndrome and mutations of the PAX2 gene.

203 Renal-coloboma syndrome is a recently described autosomal domi

204 mans, mutations in the PAX2 gene cause renal coloboma syndrome that is characterized by kidney abnorm

205 Renal-coloboma syndrome, also known as papillorenal syndrome,

206 Renal-coloboma syndrome, resulting from mutations in Pax2, is

207 d in the five reports of patients with renal-coloboma syndrome, to date, but PAX2 expression patterns

208 PAX2, mutations of which cause VUR in renal-coloboma syndrome.

209 viously described in two siblings with renal-coloboma syndrome.

210 malities may be additional features of renal-coloboma syndrome.

211 sual acuity is largely stable in adults with coloboma, they are at risk of being labelled as glaucoma

212 In particular, we observed coloboma, transdifferentiation of the dorsal and ventral

213 common in patients presenting with isolated coloboma, underscoring the need for deep phenotyping.

214 Seventy patients with coloboma underwent a battery of systemic testing, molecu

215 ociated with retinochoroidal and optic nerve coloboma using optical coherence tomography (OCT) and th

216 -corrected visual acuity (BCVA) of eyes with coloboma was >/=20/40 in 45% of eyes; 23% of eyes had BC

217 The third tumor associated with a coloboma was CRX(-) and NeuN(-).

218 An optic nerve coloboma was present in 2 eyes and combined optic nerve

219 sification in the eyes with retino-choroidal coloboma was type 4 in 7049 eyes (57.23%), followed by t

220 rized by linear opacity in the region of the coloboma), was observed in 29% of cases.

221 Optic disc colobomas were found in 5 eyes, and the characteristic f

222 issolution of the basal lamina, and prevents coloboma, whereas supplementation at E13.5 does not.

223 2bhu3625/hu3625 eyes are microphthalmic with colobomas, which may underlie the inability of the mutan

224 ith optic disc pit in one eye and optic disc coloboma with a focal pit associated with macular retino

225 tic disc pit in the right eye and optic disc coloboma with a focal pit like excavation in the left ey

226 y AMC, of which 153 had isolated coloboma or coloboma with microphthalmos.