eye abnormalities

Summary

Summary: Congenital absence of or defects in structures of the eye; may also be hereditary.

Top Publications

  1. Reis L, Semina E. Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol. 2011;22:314-24 pubmed publisher
    ..This article summarizes what is known about the genetics of ASD disorders and reviews recent developments...
  2. CHEN Y, Zhou Y, Go G, Marmerstein J, Kikkawa Y, Miner J. Laminin ?2 gene missense mutation produces endoplasmic reticulum stress in podocytes. J Am Soc Nephrol. 2013;24:1223-33 pubmed publisher
  3. Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro D. Peters anomaly: review of the literature. Cornea. 2011;30:939-44 pubmed publisher
    ..We performed a literature review of multiple case reports and case series to better define the common characteristics and unusual findings associated with Peters anomaly...
  4. Andersson L, Lyberg K, Cothran G, Ramsey D, Juras R, Mikko S, et al. Targeted analysis of four breeds narrows equine Multiple Congenital Ocular Anomalies locus to 208 kilobases. Mamm Genome. 2011;22:353-60 pubmed publisher
    ..This interval also harbors PMEL17, the gene causative for Silver coat color. However, by shortening the MCOA locus by a factor of 20, 176 other genes have been unlinked from the disease and only 15 genes remain...
  5. Lancaster M, Gopal D, Kim J, Saleem S, Silhavy J, Louie C, et al. Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nat Med. 2011;17:726-31 pubmed publisher
    ..Our findings implicate a defect in Wnt signaling in the cerebellar midline phenotype seen in Joubert syndrome that can be overcome with Wnt stimulation...
  6. Harting I, Kotzaeridou U, Poretti A, Seitz A, Pietz J, Bendszus M, et al. Interpeduncular heterotopia in Joubert syndrome: a previously undescribed MR finding. AJNR Am J Neuroradiol. 2011;32:1286-9 pubmed publisher
    ..This new imaging feature enlarges the spectrum of brain stem abnormalities in JSRD. In view of the underlying ciliopathy, it seems likely that the interpeduncular heterotopia results from misdirected migration...
  7. Browne G, Cipollone R, Lena A, Serra V, Zhou H, van Bokhoven H, et al. Differential altered stability and transcriptional activity of ?Np63 mutants in distinct ectodermal dysplasias. J Cell Sci. 2011;124:2200-7 pubmed publisher
    ..Disruption of this regulatory mechanism might contribute to the pathology of p63-related developmental disorders...
  8. Poretti A, Huisman T, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 2011;32:1459-63 pubmed publisher
    ..Neuroimaging differences in siblings represent intrafamilial heterogeneity. Due to the absence of a correlation with genotype, neuroimaging findings are of limited value in classifying patients with JSRD...
  9. Coene K, Mans D, Boldt K, Gloeckner C, van Reeuwijk J, Bolat E, et al. The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. Hum Mol Genet. 2011;20:3592-605 pubmed publisher
    ..Our data are in line with previously established roles in the cilium of other members of the Nek protein family and define NEK4 as a ciliopathy candidate gene...
  10. Garcia Gonzalo F, Corbit K, Sirerol Piquer M, Ramaswami G, Otto E, Noriega T, et al. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet. 2011;43:776-84 pubmed publisher
    ..Thus, a transition zone complex of Meckel and Joubert syndrome proteins regulates ciliary assembly and trafficking, suggesting that transition zone dysfunction is the cause of these ciliopathies...

Detail Information

Publications84

  1. Reis L, Semina E. Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol. 2011;22:314-24 pubmed publisher
    ..This article summarizes what is known about the genetics of ASD disorders and reviews recent developments...
  2. CHEN Y, Zhou Y, Go G, Marmerstein J, Kikkawa Y, Miner J. Laminin ?2 gene missense mutation produces endoplasmic reticulum stress in podocytes. J Am Soc Nephrol. 2013;24:1223-33 pubmed publisher
  3. Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro D. Peters anomaly: review of the literature. Cornea. 2011;30:939-44 pubmed publisher
    ..We performed a literature review of multiple case reports and case series to better define the common characteristics and unusual findings associated with Peters anomaly...
  4. Andersson L, Lyberg K, Cothran G, Ramsey D, Juras R, Mikko S, et al. Targeted analysis of four breeds narrows equine Multiple Congenital Ocular Anomalies locus to 208 kilobases. Mamm Genome. 2011;22:353-60 pubmed publisher
    ..This interval also harbors PMEL17, the gene causative for Silver coat color. However, by shortening the MCOA locus by a factor of 20, 176 other genes have been unlinked from the disease and only 15 genes remain...
  5. Lancaster M, Gopal D, Kim J, Saleem S, Silhavy J, Louie C, et al. Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nat Med. 2011;17:726-31 pubmed publisher
    ..Our findings implicate a defect in Wnt signaling in the cerebellar midline phenotype seen in Joubert syndrome that can be overcome with Wnt stimulation...
  6. Harting I, Kotzaeridou U, Poretti A, Seitz A, Pietz J, Bendszus M, et al. Interpeduncular heterotopia in Joubert syndrome: a previously undescribed MR finding. AJNR Am J Neuroradiol. 2011;32:1286-9 pubmed publisher
    ..This new imaging feature enlarges the spectrum of brain stem abnormalities in JSRD. In view of the underlying ciliopathy, it seems likely that the interpeduncular heterotopia results from misdirected migration...
  7. Browne G, Cipollone R, Lena A, Serra V, Zhou H, van Bokhoven H, et al. Differential altered stability and transcriptional activity of ?Np63 mutants in distinct ectodermal dysplasias. J Cell Sci. 2011;124:2200-7 pubmed publisher
    ..Disruption of this regulatory mechanism might contribute to the pathology of p63-related developmental disorders...
  8. Poretti A, Huisman T, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 2011;32:1459-63 pubmed publisher
    ..Neuroimaging differences in siblings represent intrafamilial heterogeneity. Due to the absence of a correlation with genotype, neuroimaging findings are of limited value in classifying patients with JSRD...
  9. Coene K, Mans D, Boldt K, Gloeckner C, van Reeuwijk J, Bolat E, et al. The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. Hum Mol Genet. 2011;20:3592-605 pubmed publisher
    ..Our data are in line with previously established roles in the cilium of other members of the Nek protein family and define NEK4 as a ciliopathy candidate gene...
  10. Garcia Gonzalo F, Corbit K, Sirerol Piquer M, Ramaswami G, Otto E, Noriega T, et al. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet. 2011;43:776-84 pubmed publisher
    ..Thus, a transition zone complex of Meckel and Joubert syndrome proteins regulates ciliary assembly and trafficking, suggesting that transition zone dysfunction is the cause of these ciliopathies...
  11. Zare M, Eshraghi B, Kiarudi M, Masoule E. Application of ultrasound biomicroscopy in the planning of cataract surgery in anterior megalophthalmos. Indian J Ophthalmol. 2011;59:400-2 pubmed publisher
    ..We suggest that in cases of anterior megalophthalmos without phacodonesis, UBM could measure the actual size of the capsular bag and obviate the need for further procedures...
  12. Lehnhardt A, Lama A, Amann K, Matejas V, Zenker M, Kemper M. Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. Pediatr Nephrol. 2012;27:865-8 pubmed publisher
    ..Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure...
  13. Bachmann Gagescu R, Ishak G, Dempsey J, Adkins J, O Day D, Phelps I, et al. Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. J Med Genet. 2012;49:126-37 pubmed publisher
    ..CC2D2A mutations are a relatively common cause of JS and also cause Meckel syndrome. The clinical consequences of CC2D2A mutations in patients with JS have been incompletely reported...
  14. Lee J, Silhavy J, Zaki M, Schroth J, Bielas S, Marsh S, et al. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet. 2012;44:193-9 pubmed publisher
    ..Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction...
  15. Lee J, Silhavy J, Lee J, Al Gazali L, Thomas S, Davis E, et al. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science. 2012;335:966-9 pubmed publisher
    ..Hence, during vertebrate evolution of genes involved in ciliogenesis, nonparalogous genes were arranged to a functional gene cluster with shared regulatory elements...
  16. Siegel D, Tefft K, Kelly T, Johnson C, Metry D, Burrows P, et al. Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature. Stroke. 2012;43:1672-4 pubmed publisher
    ..brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Several case reports of arterial ischemic stroke (AIS) in individuals with PHACE have been published, but ..
  17. Chang T, Summers C, Schimmenti L, Grajewski A. Axenfeld-Rieger syndrome: new perspectives. Br J Ophthalmol. 2012;96:318-22 pubmed publisher
  18. Prada F, Mortera C, Bartrons J, Rissech M, Jimenez L, Carretero J, et al. Complex aortic coarctation and PHACE syndrome. Rev Esp Cardiol. 2010;63:1367-70 pubmed
    ..Surgical treatment was also complex. Prognosis in this condition depends primarily on cardiovascular and cerebral artery complications associated with the syndrome...
  19. Mohney B, Pulido J, Lindor N, Hogan M, Consugar M, Peters J, et al. A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. Ophthalmology. 2011;118:1137-44 pubmed publisher
    ..To describe a novel laminin ?-2 (LAMB2) mutation associated with nephrotic syndrome and severe retinal disease without microcoria in a large, multigenerational family with Pierson syndrome...
  20. Vaclavik V, Schorderet D, Borruat F, Munier F. Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation. Ophthalmic Genet. 2011;32:114-7 pubmed publisher
    ..To report on the clinical and electrophysiological findings in a patient with oculo-auricular syndrome due to HMX1 mutation, with a follow-up of 12 years...
  21. Kim G, Ki C, Seo S, Yoo J, Han Y, Chung I, et al. A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome. Mol Vis. 2013;19:935-43 pubmed
    ..To report a case series of patients with novel forkhead box CI (FOXC1) mutations in a Korean family with Axenfeld-Rieger syndrome (ARS)...
  22. Dafinger C, Liebau M, Elsayed S, Hellenbroich Y, Boltshauser E, Korenke G, et al. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest. 2011;121:2662-7 pubmed publisher
    ..Thus, we suggest that modified microtubule stability and growth direction caused by loss of KIF7 function may be an underlying disease mechanism contributing to JBTS...
  23. Shao Q, Liu Q, Lorentz R, Gong X, Bai D, Shaw G, et al. Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia. Mol Biol Cell. 2012;23:3312-21 pubmed publisher
    ..Collectively, these studies suggest that the nature of the mutation conveys loss of Cx43 function by distinctly different mechanisms that are rooted in the structure of the N-terminal region...
  24. Georgalas I, Ladas I, Georgopoulos G, Petrou P. Optic disc pit: a review. Graefes Arch Clin Exp Ophthalmol. 2011;249:1113-22 pubmed publisher
    ..quot; The main complication of this condition, termed optic disc pit maculopathy, is associated with visual deterioration. Treatment of optic disc pit maculopathy remains challenging...
  25. Sattar S, Gleeson J. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Dev Med Child Neurol. 2011;53:793-8 pubmed publisher
    ..Recognizing the diverse presentations of the ciliopathies and screening strategies following diagnosis is an important part of the treatment plan of children with cilia-related disorders...
  26. Suh J, Jarad G, Vandevoorde R, Miner J. Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndrome. Proc Natl Acad Sci U S A. 2011;108:15348-53 pubmed publisher
    ..These results suggest the possibility that up-regulation of LAMB1 in podocytes, should it become achievable, would likely lessen the severity of nephrotic syndrome in patients carrying LAMB2 mutations...
  27. Huang L, Szymanska K, Jensen V, Janecke A, Innes A, Davis E, et al. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet. 2011;89:713-30 pubmed publisher
    ..Collectively, our findings integrate TMEM237/JBTS-14 in a complex interaction network of TZ-associated proteins and reveal a growing contribution of a TZ functional module to the spectrum of ciliopathy phenotypes...
  28. Clements S, Techanukul T, Lai Cheong J, Mee J, South A, Pourreyron C, et al. Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology. Br J Dermatol. 2012;167:134-44 pubmed publisher
    ..Clinically, the skin is dry and often fragile; other features can include partial eyelid fusion (ankyloblepharon), hypodontia, orofacial clefting, sparse hair or alopecia, and nail dystrophy...
  29. Huang T, Shao Q, Macdonald A, Xin L, Lorentz R, Bai D, et al. Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms. J Cell Sci. 2013;126:2857-66 pubmed publisher
  30. Ferone G, Thomason H, Antonini D, De Rosa L, Hu B, Gemei M, et al. Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome. EMBO Mol Med. 2012;4:192-205 pubmed publisher
    ..These findings establish a functional link between FGF signalling and p63 in the expansion of epithelial progenitor cells and provide mechanistic insights into the pathogenesis of AEC syndrome...
  31. de la Houssaye G, Bieche I, Roche O, Vieira V, Laurendeau I, Arbogast L, et al. Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report. BMC Med Genet. 2006;7:82 pubmed
    ..The molecular genetics of some ARS pedigrees should be re-examined with enzymes that can amplify medium and large genomic fragments. ..
  32. Gestri G, Osborne R, Wyatt A, Gerrelli D, Gribble S, Stewart H, et al. Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. Hum Genet. 2009;126:791-803 pubmed publisher
    ..These results reveal that mutations in TFAP2A are associated with a wide range of eye phenotypes and that hypomorphic tfap2a mutations can increase the risk of developmental defects arising from mutations at other loci. ..
  33. Park S, Kim H, Heo H, Park Y. Anomalous scleral insertion of superior oblique in Axenfeld-Rieger syndrome. Korean J Ophthalmol. 2009;23:62-4 pubmed publisher
    ..During surgery we observed that the SO inserted more posteriorly than normal. We believe this finding is one of the abnormal manifestations of the development of the extraocular muscles in ARS...
  34. Vincent A, Billingsley G, Priston M, Glaser T, Oliver E, Walter M, et al. Further support of the role of CYP1B1 in patients with Peters anomaly. Mol Vis. 2006;12:506-10 pubmed
    ..7%) control individuals. This study supports the role of CYP1B1 as a causative gene in Peters anomaly. Furthermore, this emphasizes the broad range of phenotypic expression for CYP1B1 mutations, and its role in eye development. ..
  35. Kelberman D, de Castro S, Huang S, Crolla J, Palmer R, Gregory J, et al. SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J Clin Endocrinol Metab. 2008;93:1865-73 pubmed publisher
  36. Kagan M, Cohen A, Matejas V, Vlangos C, Zenker M. A milder variant of Pierson syndrome. Pediatr Nephrol. 2008;23:323-7 pubmed
  37. Huang L, Chi J, Berry F, Footz T, Sharp M, Walter M. Human p32 is a novel FOXC1-interacting protein that regulates FOXC1 transcriptional activity in ocular cells. Invest Ophthalmol Vis Sci. 2008;49:5243-9 pubmed publisher
    ..Failure of p32 to interact with FOXC1 containing the disease-causing F112S mutation indicates that impaired protein interaction may be a disease mechanism for AR malformations. ..
  38. Clements S, Techanukul T, Holden S, Mellerio J, Dorkins H, Escande F, et al. Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder. Br J Dermatol. 2010;163:624-9 pubmed publisher
  39. Weisschuh N, Dressler P, Schuettauf F, Wolf C, Wissinger B, Gramer E. Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. Invest Ophthalmol Vis Sci. 2006;47:3846-52 pubmed
    ..To determine the prevalence of FOXC1 and PITX2 mutations and to assess clinical phenotypes in a cohort of German patients with Axenfeld-Rieger malformations...
  40. Gekeler F, Shinoda K, Junger M, Bartz Schmidt K, Gelisken F. Familial retinal arterial tortuosity associated with tortuosity in nail bed capillaries. Arch Ophthalmol. 2006;124:1492-4 pubmed
  41. Ticho B, Hilchie Schmidt C, Egel R, Traboulsi E, Howarth R, Robinson D. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. Ophthalmic Genet. 2006;27:145-9 pubmed
    ..Sequencing studies revealed a substitution in intron 2 of the PAX6 gene (IVS2 + 2T > A). To our knowledge, this is the first mutation of PAX6 gene reported in association with a Gillespie-like syndrome. ..
  42. Uchimura T, Komatsu Y, Tanaka M, McCann K, Mishina Y. Bmp2 and Bmp4 genetically interact to support multiple aspects of mouse development including functional heart development. Genesis. 2009;47:374-84 pubmed publisher
    ..These results suggest that the dosage of both BMP2 and 4 is critical for functional heart formation during embryogenesis and after birth. ..
  43. Munroe R, Prabhu V, Acland G, Johnson K, Harris B, O Brien T, et al. Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass. BMC Dev Biol. 2009;9:27 pubmed publisher
    ..These tandemly duplicated genes have functional overlap as indicated by the loss of the entire vestibular system in double mutants. Mutants have not been described for Hmx1, the most divergent of the family...
  44. Berker N, Alanay Y, Elgin U, Volkan Salanci B, Simsek T, Akarsu N, et al. A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum. Acta Ophthalmol. 2009;87:52-7 pubmed publisher
    ..The exclusion of these genes as likely candidates supports the hypothesis that the ocular phenotype associated with PA segregating in this family is a distinct, new, autosomal dominant entity in the anterior segment dysgenesis spectrum. ..
  45. Iturralde D, Meyerle C, Yannuzzi L. Aicardi syndrome: chorioretinal lacunae without corpus callosum agenesis. Retina. 2006;26:977-8 pubmed
  46. Musa F, Ratajczak P, Sahu J, Pentlicky S, Fryer A, Richard G, et al. Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). Eye (Lond). 2009;23:549-55 pubmed publisher
    ..To characterize the ophthalmic findings, intrafamilial variability, and molecular genetic basis of oculodentodigital dysplasia (ODDD; MIM no. 164200)...
  47. Mihelec M, St Heaps L, Flaherty M, Billson F, Rudduck C, Tam P, et al. Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma. Twin Res Hum Genet. 2008;11:412-21 pubmed publisher
    ..More recently, new methods in chromosomal analysis such as comparative genomic hybridization (CGH) microarray, have also enhanced our ability in disease gene identification. ..
  48. Iqbal Z, Cejudo Martin P, de Brouwer A, van der Zwaag B, Ruiz Lozano P, Scimia M, et al. Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Am J Hum Genet. 2010;86:254-61 pubmed publisher
    ..as Ter Haar syndrome, is an autosomal-recessive disorder characterized by skeletal, cardiovascular, and eye abnormalities, such as increased intraocular pressure, prominent eyes, and hypertelorism...
  49. Pretorius P, Baye L, Nishimura D, Searby C, Bugge K, Yang B, et al. Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. PLoS Genet. 2010;6:e1000884 pubmed publisher
    ..Bbs3L-null mice lack key features of previously published Bbs-null mice, including obesity. These data demonstrate that the BBS3L transcript is required for proper retinal function and organization. ..
  50. Kaminska A, Sokołowska Oracz A, Pawluczyk Dyjecińska M, Szaflik J. [Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome]. Klin Oczna. 2007;109:321-6 pubmed
    ..This study presents various clinical manifestations of Axenfeld-Rieger syndrome within one family...
  51. Volkmann B, Zinkevich N, Mustonen A, Schilter K, Bosenko D, Reis L, et al. Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. Invest Ophthalmol Vis Sci. 2011;52:1450-9 pubmed publisher
    ..Identification of cis-regulatory elements of PITX2 is important to better understand the mechanisms of disease...
  52. Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, et al. Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities. Mol Vis. 2007;13:511-23 pubmed
    ..We studied PAX6 mutations in a large spectrum of patients who presented with aniridia phenotypes, Peters' anomaly, and anterior segment malformations associated or not with neurological anomalies...
  53. Fuse N, Takahashi K, Yokokura S, Nishida K. Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome. Mol Vis. 2007;13:1005-9 pubmed
    ..The purpose of this study was to determine the ocular and genetic characteristics of two Japanese families with Axenfeld-Rieger syndrome (ARS)...
  54. Yeyati P, Bancewicz R, Maule J, van Heyningen V. Hsp90 selectively modulates phenotype in vertebrate development. PLoS Genet. 2007;3:e43 pubmed
  55. Bakrania P, Robinson D, Bunyan D, Salt A, Martin A, Crolla J, et al. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. 2007;91:1471-6 pubmed
  56. Ito Y, Footz T, Murphy T, Courtens W, Walter M. Analyses of a novel L130F missense mutation in FOXC1. Arch Ophthalmol. 2007;125:128-35 pubmed
    ..To understand how the novel L130F mutation, found in 2 patients with Axenfeld-Rieger syndrome, disrupts function of the forkhead box C1 protein (FOXC1)...
  57. Weng J, Luo J, Cheng X, Jin C, Zhou X, Qu J, et al. Deletion of G protein-coupled receptor 48 leads to ocular anterior segment dysgenesis (ASD) through down-regulation of Pitx2. Proc Natl Acad Sci U S A. 2008;105:6081-6 pubmed publisher
  58. Wyatt A, Osborne R, Stewart H, Ragge N. Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies. Hum Mutat. 2010;31:781-7 pubmed publisher
    ..These data establish BMP7 as an important gene in human eye development, and suggest that BMP7 should be considered during clinical evaluation of individuals with developmental eye anomalies...
  59. Ahmadieh H, Banaee T, Javadi M, Jafarinasab M, Yazdani S, Sajjadi H. Vitreoretinal disorders in anterior megalophthalmos. Jpn J Ophthalmol. 2006;50:515-523 pubmed publisher
    ..To describe vitreoretinal abnormalities in patients with anterior megalophthalmos (AM) and to report the results of vitreoretinal surgery in these cases...
  60. Grahn B, Pinard C, Archer S, Bellone R, Forsyth G, Sandmeyer L. Congenital ocular anomalies in purebred and crossbred Rocky and Kentucky Mountain horses in Canada. Can Vet J. 2008;49:675-81 pubmed
    ..A pedigree analysis confirms a dominant mode of inheritance with incomplete penetrance and with a linkage to coat color...
  61. Guercio J, Martyn L. Congenital malformations of the eye and orbit. Otolaryngol Clin North Am. 2007;40:113-40, vii pubmed
  62. Gong X, Shao Q, Lounsbury C, Bai D, Laird D. Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma. J Biol Chem. 2006;281:31801-11 pubmed
    ..These results suggest that the 46 aberrant amino acid residues associated with the frameshift mutant are, at least in part, responsible for the manifestation of palmoplantar keratoderma symptoms...
  63. Maciolek N, Alward W, Murray J, Semina E, McNally M. Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome. BMC Med Genet. 2006;7:59 pubmed
    ..Several intronic PITX2 mutations have been reported in Axenfeld-Rieger patients but their effects on gene expression have not been tested...
  64. Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler D, et al. Ophthalmological aspects of Pierson syndrome. Am J Ophthalmol. 2008;146:602-611 pubmed publisher
    ..To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition...
  65. Dobrowolski R, Sommershof A, Willecke K. Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels. J Membr Biol. 2007;219:9-17 pubmed
    ..We hypothesize that increased hemichannel activity may aggravate the phenotypic abnormalities in ODDD patients who are deficient in Cx43 gap junction channels...
  66. van Haelst M, Scambler P, Hennekam R. Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet A. 2007;143A:3194-203 pubmed
    ..The specificity of the proposed diagnostic criteria was evaluated using the London Medical Database as a search tool...
  67. Sainte Marie Y, Toulon A, Paus R, Maubec E, Cherfa A, Grossin M, et al. Targeted skin overexpression of the mineralocorticoid receptor in mice causes epidermal atrophy, premature skin barrier formation, eye abnormalities, and alopecia. Am J Pathol. 2007;171:846-60 pubmed
    ..This new mouse model reveals novel biological roles of MR signaling and offers an instructive tool for dissecting nonclassical functions of MR signaling in epidermal, hair follicle, and ocular physiology...
  68. Metry D, Siegel D, Cordisco M, Pope E, Prendiville J, Drolet B, et al. A comparison of disease severity among affected male versus female patients with PHACE syndrome. J Am Acad Dermatol. 2008;58:81-7 pubmed
  69. Reis L, Tyler R, Abdul Rahman O, Trapane P, Wallerstein R, Broome D, et al. Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet A. 2008;146A:2603-10 pubmed publisher
  70. Bassett E, Williams T, Zacharias A, Gage P, Fuhrmann S, West Mays J. AP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis. Hum Mol Genet. 2010;19:1791-804 pubmed publisher
    ..In view of recent data showing that mutations in human TFAP2A result in similar eye defects, the current findings demonstrate that AP-2alpha KO mice provide a valuable model for human ocular disease...
  71. Kaur K, Ragge N, Ragoussis J. Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies. Mol Vis. 2009;15:1366-73 pubmed
    ..The aim of this study is to establish whether mutation of FOXC1 contributes toward other developmental eye anomalies, namely anophthalmia, microphthalmia, and coloboma...
  72. Iseri S, Osborne R, Farrall M, Wyatt A, Mirza G, Nurnberg G, et al. Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. Hum Mutat. 2009;30:1378-86 pubmed publisher
    ..We suggest including FOXE3 in the diagnostic genetic screening for these anomalies...
  73. Caluseriu O, Mirza G, Ragoussis J, Chow E, MacCrimmon D, Bassett A. Schizophrenia in an adult with 6p25 deletion syndrome. Am J Med Genet A. 2006;140:1208-13 pubmed
    ..Other similarly affected patients likely remain to be diagnosed in adult populations of schizophrenia and/or mental retardation...
  74. Gogate P, Deshpande M, Sudrik S, Taras S, Kishore H, Gilbert C. Changing pattern of childhood blindness in Maharashtra, India. Br J Ophthalmol. 2007;91:8-12 pubmed
    ..To determine the causes of severe visual impairment and blindness in children in schools for the blind in Maharashtra, India...
  75. Hingorani M, Williamson K, Moore A, van Heyningen V. Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest Ophthalmol Vis Sci. 2009;50:2581-90 pubmed publisher
    ..Mutation analyses and detailed clinical evaluations were performed in 43 individuals with aniridia or closely related ocular anomalies, to investigate whether phenotype correlates with mutation type...
  76. Lesnik Oberstein S, Kriek M, White S, Kalf M, Szuhai K, den Dunnen J, et al. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet. 2006;79:562-6 pubmed
    ..This finding is expected to put Peters Plus syndrome on the growing list of congenital malformation syndromes caused by glycosylation defects...
  77. Weisschuh N, Wolf C, Wissinger B, Gramer E. A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. Clin Genet. 2008;74:476-80 pubmed publisher
    ..In this pedigree, all affected family members were diagnosed with ARS except for one who shows bilateral Peters' anomaly. Our findings support the role of FOXC1 mutations in the spectrum of ASD...
  78. Kumar R, Tantisevi V, Wong M, Laohapojanart K, Chansanti O, Quek D, et al. Plateau iris in Asian subjects with primary angle closure glaucoma. Arch Ophthalmol. 2009;127:1269-72 pubmed publisher
    ..To determine the prevalence of plateau iris in Asian eyes with primary angle closure glaucoma (PACG) using ultrasound biomicroscopy (UBM)...
  79. Chavarria Soley G, Michels Rautenstrauss K, Caliebe A, Kautza M, Mardin C, Rautenstrauss B. Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). J Glaucoma. 2006;15:499-504 pubmed
    ..Sequence analysis for the PAX6, PITX2, FOXC1, and CYP1B1 genes has been implemented for this purpose...
  80. Reis L, Tyler R, Schneider A, Bardakjian T, Stoler J, Melancon S, et al. FOXE3 plays a significant role in autosomal recessive microphthalmia. Am J Med Genet A. 2010;152A:582-90 pubmed publisher
    ..In conclusion, FOXE3 mutations represent an important cause of nonsyndromic autosomal recessive bilateral microphthalmia...
  81. Schorderet D, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, et al. Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. Am J Hum Genet. 2008;82:1178-84 pubmed publisher
    ..Morpholino knockdown expression of the zebrafish nkx5-3 induced microphthalmia and disorganization of the developing retina, thus confirming that this gene represents an additional member implicated in axial patterning of the retina...
  82. Kleinjan D, Bancewicz R, Gautier P, Dahm R, Schonthaler H, Damante G, et al. Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence. PLoS Genet. 2008;4:e29 pubmed publisher
  83. Espana E, Mora R, Liebmann J, Ritch R. Bilateral prominent schwalbe ring in the anterior chamber in a patient with axenfeld-rieger syndrome and megalocornea. Cornea. 2007;26:379-81 pubmed
    ..To report the unusual presentation of bilateral Schwalbe rings suspended in the anterior chambers of a patient with Axenfeld-Rieger syndrome...