ライフサイエンスコーパス: aniridia

1 y underlie phenotypes distinct from textbook aniridia.

2 ight into the role of mutant PAX6 in causing aniridia.

3 ital process that appears to be defective in aniridia.

4 s, and its mutation is responsible for human aniridia.

5 ation, which we identified in a patient with aniridia.

6 ges were acquired from 5 family members with aniridia.

7 factors to consider when managing congenital aniridia.

8 nd identify prognostic factors in congenital aniridia.

9 of iris root or remnants, and mild atypical aniridia.

10 th MMC in eyes with glaucoma associated with aniridia.

11 implantation, particularly in patients with aniridia.

12 nowledge about retinal cellular phenotype in aniridia.

13 s is one of the clinical signs of congenital aniridia.

14 idia, and 37 (50.7%) presented with sporadic aniridia.

15 t to NLP outcomes among eyes with congenital aniridia.

16 eses, devices designed to reduce symptoms of aniridia.

17 atients had clinical diagnosis of congenital aniridia.

18 milies with a documented familial history of aniridia.

19 eal replacement for infectious keratitis and aniridia.

20 ociated with microphthalmia, anophthalmia or aniridia.

21 ly cause less severe abnormalities than does aniridia.

22 PAX6 transcription unit in two families with aniridia.

23 mus, 0.80 +/- 0.11; albinism, 0.80 +/- 0.11; aniridia, 0.87 +/- 0.16; and BONH, 0.79 +/- 0.18.

24 ere observed more frequently than congenital aniridia (1 eye), iatrogenic causes (1 eye), aniridic st

25 .5%, 57.5%, and 20% (P = .02), iris stump in aniridia 15%, 10%, and 0% (P = .001), shallow central an

26 eal area, mean VD was lower in patients with aniridia (42.34%, n = 10) than in healthy subjects (49.2

27 Ahmed valves were co-implanted with KPro in aniridia (47.6%) vs comparison eyes (17.9%, P = .008).

28 In patients with congenital aniridia, a positive correlation was found between the g

29 pite a higher glaucoma prevalence, eyes with aniridia achieved similar VA as comparison eyes with mor

30 ogic genetic disorders such as anophthalmia, aniridia, albinism, anterior segment dysgenesis, Marfan

31 jury eyes, whereas the worst prognosis is in aniridia, although the latter has limited visual potenti

32 erved PAX6 homeobox gene are associated with aniridia, an inherited human disorder affecting several

33 OCT-A was performed in patients with aniridia and control subjects.

34 ixty-six eyes of 35 children with congenital aniridia and early-onset glaucoma who underwent CTT betw

35 iridia, patients with confirmed PAX6-related aniridia and FH diagnosed on spectral-domain OCT (SD-OCT

36 cult to identify in the context of traumatic aniridia and iris prosthesis implantation due to other p

37 of Vhl in the RPE results in RPE apoptosis, aniridia and microphthalmia.

38 The population included patients with aniridia and patients with other preoperative diagnoses

39 Thirty-six (49.3%) presented with familial aniridia, and 37 (50.7%) presented with sporadic aniridi

40 infantile nystagmus, 21 had albinism, 7 had aniridia, and 7 had mild or moderate bilateral optic ner

41 Reduction of mean acuity in albinism, aniridia, and BONH is due to the visual sensory defect a

42 ngenital limbal stem cell deficiency (LSCD), aniridia, and cataract.

43 port the haploid-insufficiency hypothesis of aniridia, and the hypothesis that R26G is a hypomorphic

44 rectomy, 2 eyes aphakia, and 1 eye each with aniridia, anterior chamber intraocular lens, and iris-fi

45 surgery, iridocorneal endothelial syndrome, aniridia, aphakia, and anterior chamber intraocular lens

46 postpenetrating keratoplasty, ICE syndrome, aniridia, aphakia, complex anterior chambers with anteri

47 1 and Pax6+/- mice and Pax6+/- patients with aniridia are deficient in sflt-1, and recombinant sflt-1

48 ridia is a rare condition, which may lead to aniridia-associated keratopathy (AAK) and corneal blindn

49 bolic differences between wild-type (WT) and aniridia-associated keratopathy (AAK) hiPSCs.

50 PAX6 function was first identified through aniridia-associated null mutations.

51 h use of a panel of cosmids encompassing the aniridia-associated PAX6 gene, the Wilms tumor predispos

52 th oculocutaneous albinism [OCA], and 1 with aniridia) at a tertiary ophthalmology center with access

53 ro has been used include herpetic keratitis, aniridia, autoimmune ocular disorders, and pediatric cor

54 scopic de novo deletions of 11p13 that cause aniridia but are located >11 kb from the 3' end of PAX6.

55 mal limbal palisade morphology was absent in aniridia but present in controls.

56 Nine of the 16 eyes with aniridia came from 5 families with a documented familial

57 al epithelial region were present in 5 of 11 aniridia cases with an otherwise clear cornea.

58 However, aniridia cases with chromosomal rearrangements far downs

59 Sub-basal nerves were extremely dense in 3 aniridia cases, and a prominent whorl pattern of nerves

60 d reduced olfaction in a large proportion of aniridia cases, which shows that PAX6 haploinsuffiency c

61 Heterozygous PAX6 mutations in human aniridia cause defects that would seem to be confined to

62 ivo cone photoreceptor structure in familial aniridia caused by deletion in the PAX6 gene to elucidat

63 spie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive cerebellar ata

64 Deletions of one PAX6 allele result in aniridia characterized by severe ocular phenotypes.

65 nts who presented with bilateral LSCD due to aniridia, chemical/thermal burn, cicatrizing pemphigoid,

66 toreceptor density, and mosaic regularity in aniridia compared with normal control participants.

67 Mutations of the human PAX6 gene underlie aniridia (congenital absence of the iris), a rare domina

68 In patients with congenital aniridia, correlation between VD and the grading of FH w

69 Four participants with aniridia demonstrated FH grade 2, 2 demonstrated grade 3

70 metabolomic differences between healthy and aniridia-derived samples.

71 Eyes with and without aniridia did not differ in post-KPro VA improvement (72.

72 At final follow-up, more aniridia eyes had glaucoma (90.5%) than comparison eyes

73 as further analyzed according to the type of aniridia, foveal hypoplasia, and laterality of congenita

74 a deletion including the WAGR (Wilms' tumor, aniridia, genitourinary abnormalities, and mental retard

75 AGR syndrome (the clinical triad of aniridia, genitourinary anomalies, and mental retardatio

76 subgroup of WAGR syndrome for Wilm's tumor, aniridia, genitourinary anomalies, and mental retardatio

77 BDNF (11p14.1), result in the Wilms' tumor, aniridia, genitourinary anomalies, and mental retardatio

78 Unlike WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardatio

79 ardation component of the WAGR (Wilms tumor, aniridia, genitourinary anomalies, mental retardation) s

80 yndrome (FS) and WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and mental retard

81 Before KPro implantation, eyes with aniridia had more glaucoma (76.2%) and glaucoma surgery

82 Traumatic aniridia has been documented in eyes with a history of c

83 ong 230 patients with confirmed PAX6-related aniridia, high-quality macular B-scans and OCT-A were av

84 lature is altered in PAX6-related congenital aniridia, higher in foveal and lower in parafoveal areas

85 us null mutations in the PAX6 gene result in aniridia in humans and a distinct small eye syndrome in

86 unction result in eye malformations known as Aniridia in humans and Small eye syndrome in mice.

87 ly lethal; heterozygous null mutations cause aniridia in humans and the Small eye (Sey) phenotype in

88 ne in eye development with mutations causing aniridia in humans.

89 opment and that Paxb mutations can result in aniridia in humans.

90 s associated with both sporadic and familial aniridia in this cohort.

91 ment of complex or severe cases of traumatic aniridia in which surgical repair is difficult may consi

92 Aniridia is a condition defined by total or partial loss

93 Aniridia is a congenital and progressive panocular condi

94 Aniridia is a panocular disorder that severely affects v

95 Aniridia is a panocular human eye malformation caused by

96 Congenital aniridia is a rare condition, which may lead to aniridia

97 Aniridia is a rare panocular disease caused by gene muta

98 The congenital eye malformation aniridia is caused by haploinsufficiency of the developm

99 is caused by mutations in PITX2 or FOXC1 and aniridia is caused by PAX6 mutations.

100 ele of PAX6 produces an inactive protein and aniridia is caused due to genetic haploinsufficiency.

101 Aniridia is inherited in an autosomal dominant manner, b

102 Development of aniridia is linked with nonsense mutations that result i

103 Patients with Wilms' tumor, aniridia, major genitourinary malformations, and mental

104 Hif1a in the RPE rescues the RPE morphology, aniridia, microphthalmia and anterior vasoproliferation,

105 The aniridia (n = 22) and comparison (n = 61) groups had sim

106 rmalities, such as glaucomas that occur with aniridia or as part of Axenfeld-Rieger syndrome.

107 Patients with Wilms' tumor and aniridia or genitourinary abnormalities should be follow

108 When assessed, aniridia or iris hypoplasia were noted in 89% and optic

109 iring KPro explantation were associated with aniridia (P = .0038), sterile keratolysis (P < .001), re

110 On the foveal area, mean VD was higher in aniridia patients (41.10%, n = 10) than in control subje

111 The spectrum of PAX6 mutations in aniridia patients is highly biased, with 92% of all repo

112 nducted of 379 medical records of congenital aniridia patients who had a follow-up at the Necker-Enfa

113 oids were generated from hiPSCs derived from aniridia patients with three different PAX6 nonsense mut

114 Upon examining the DNA samples of aniridia patients, we identified three missense mutation

115 ed iris and intraocular lens (IOL) repair in aniridia patients.

116 mon even though they are hardly ever seen in aniridia patients.

117 the National Referral Center for congenital aniridia, patients with confirmed PAX6-related aniridia

118 gene result in various phenotypes, including aniridia, Peter's anomaly, autosomal dominant keratitis,

119 6 gene produce various phenotypes, including aniridia, Peters' anomaly, autosomal dominant keratitis

120 6 gene produce various phenotypes, including aniridia, Peters' anomaly, foveal hypoplasia, autosomal

121 nd two in association with more recognizable aniridia phenotypes.

122 Deletion of Lgr4 in mouse led to aniridia, polycystic kidney disease, genitourinary anoma

123 Ninety-four patients with congenital aniridia presented at median 19.0 years.

124 iris defects, with 95% of eyes with complete aniridia presenting grade 3 or 4 foveal hypoplasia (P =

125 Seventy-seven patients with aniridia, referred for cytogenetic analysis predominantl

126 Degeneration of the corneal surface in aniridia-related keratopathy relates to both a deficienc

127 the C-terminal half of PAX6 in patients with Aniridia resulting in mutant proteins that retain the DN

128 Patients with aniridia seem to be at increased risk.

129 Those with aniridia showed variable iris phenotype ranging from alm

130 ed, the high rate of RF in patients with the aniridia syndrome challenges the view that nephropathy i

131 and 10 of 46 patients with the Wilms' tumor aniridia syndrome developed RF.

132 view of 9 eyes in 9 patients with congenital aniridia that developed aniridic fibrosis syndrome.

133 e more common dominant and sporadic forms of aniridia, there has been no significant association with

134 rafish, and rodents, have been used to study aniridia through Pax6 deletions.

135 Here, we used a mouse model of aniridia to test the hypothesis that manipulation of Pax

136 onal case series of patients with congenital aniridia treated between 2012-2020.

137 Children with the rare Wilms tumor (WT)-aniridia (WAGR) syndrome have not had systematic evaluat

138 The RR of developing NLP among eyes with aniridia was 3.04 (P = .01).

139 Aniridia was also an independent risk factor for RPM dev

140 Aniridia was significantly associated with increased RD

141 Aniridia was total in 52 eyes and partial in 14 eyes.

142 Five patients with OCA and 1 with aniridia were also included.

143 , and the RR of NLP outcomes among eyes with aniridia were determined.

144 ecords of patients diagnosed with congenital aniridia were retrospectively reviewed.

145 offers satisfactory visual rehabilitation in aniridia when glaucoma is managed aggressively.

146 tomography angiography (OCT-A) in congenital aniridia which is hallmarked by foveal hypoplasia (FH).

147 old, male construction worker with traumatic aniridia who experienced chronic, recurrent low-grade in

148 This study included patients with congenital aniridia who underwent AADI implantation or trabeculecto

149 for aniridic fibrosis syndrome in congenital aniridia with early surgical intervention is recommended

150 wed good success in children with congenital aniridia with early-onset glaucoma.

151 However, traumatic aniridia with extensive pigmentation of the episclera ha

152 ls were present in the central epithelium in aniridia, with significantly increased density relative