Genomes and Genes
Summary: Congenital or developmental anomaly in which the eyeballs are abnormally small.
Articles from Journal RESEARCH
Articles from Journal RESEARCH1
Publications213 found, 100 shown here
- HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?Isabella Wimplinger
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Mol Vis 13:1475-82. 2007..In addition, we investigated the impact of the p.E159K missense mutation on sorting of HCCS to mitochondria and its functional integrity...
- Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndromeIsabella Wimplinger
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Butenfeld 42, Hamburg, Germany
Am J Hum Genet 79:878-89. 2006..In summary, we suggest that disturbance of both OXPHOS and the balance between apoptosis and necrosis, as well as the X-inactivation pattern, may contribute to the variable phenotype observed in patients with MLS...
- Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and miceK Saidas Nair
Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, USA
Nat Genet 43:579-84. 2011..Together, these data suggest that alterations of this serine protease may contribute to a spectrum of human ocular conditions including reduced ocular size and ACG...
- Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 casesManuela Morleo
Telethon Institute of Genetics and Medicine TIGEM, Via Pietro Castellino 111, 80131 Naples, Italy
Am J Med Genet A 137:190-8. 2005..These patients made it possible to undertake mutation screening of candidate genes and may prove critical for the identification of the gene responsible for this challenging and intriguing genetic disease...
- Microphthalmia with linear skin defects: a case report and reviewVishakha M Sharma
Department of Medicine, Section of Dermatology, University of Chicago, Chicago, Illinois, USA
Pediatr Dermatol 25:548-52. 2008..We present a patient with classic clinical and genetic findings of MLS syndrome and discuss the primary characteristics and management of this disorder...
- Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum casesJ Gonzalez-Rodriguez
Research Unit, Institute of Ophthalmology Conde de Valenciana, Chimalpopoca 14, Col Obrera, CP 06800, Mexico City, Mexico
Br J Ophthalmol 94:1100-4. 2010..Here, a comprehensive mutational analysis of the CHX10, GDF6, RAX, SOX2 and OTX2 genes was performed in 50 MAC subjects...
- Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndromeIsabella Wimplinger
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Campus Forschung, Gebäude 146, Martinistrasse 52, D 20246 Hamburg, Germany
Eur J Med Genet 50:421-31. 2007..Nonetheless, a non-random X-inactivation pattern in favor of activity of the wild-type X chromosome in the early blastocyte could also account for the apparent lack of any disease sign in this female...
- Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early managementShaheen P Shah
International Centre for Eye Health, London School of Hygiene and Tropical Medicine, London, United Kingdom
Ophthalmology 119:362-8. 2012To describe the clinical features of children with anophthalmos, microphthalmos, and typical coloboma (AMC).
- Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreousS Khaliq
Dr A Q Khan Research Laboratories, Biomedical and Genetic Engineering Division, Islamabad, Pakistan
Invest Ophthalmol Vis Sci 42:2225-8. 2001..All affected individuals had peripheral anterior synechiae and corneal opacities with variable degrees of cataract and a retrolenticular white mass behind the lens...
- Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesionsT Kono
Department of Radiology, Dokkyo University School of Medicine, Tochigi, Japan
J Hum Genet 44:63-8. 1999..Our observation further supports the current hypothesis that the phenotypic variation of MLS syndrome represents tissue-different X inactivation rather than different genetic effects of two contiguous genes...
- Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS)L Schaefer
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA
Genomics 34:166-72. 1996..The expression pattern of this gene and knowledge about the function of holocytochrome synthetases, however, suggest that it is a good candidate for X-linked encephalomyopathies typically associated with mitochondrial dysfunction...
- Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome cQuenten P Schwarz
Department of Molecular Biosciences and Centre for the Molecular Genetics of Development, University of Adelaide, North Terrace, Adelaide, South Australia, Australia 5005
Genomics 79:51-7. 2002....
- The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regionsM C Wapenaar
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030
Hum Mol Genet 2:947-52. 1993..Ten potential CpG-islands, representing candidate sites for genes, have been mapped within the 2.6 Mb region. Our data should greatly facilitate efforts aimed at cloning the genes for these developmental defects...
- Xp22.3 microdeletion in a 19-year-old girl with clinical features of MLS syndromeF Enright
Department of Dermatology, Our Lady s Hospital for Sick Children, Dublin, Ireland
Pediatr Dermatol 20:153-7. 2003..We describe this patient with an Xp22.3 microdeletion to heighten awareness among dermatologists of this syndrome and to underscore the difficulties in diagnosing MLS syndrome...
- Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of XpK Kutsche
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Cytogenet Genome Res 99:297-302. 2002....
- Management of strabismus in nanophthalmic patients: a long-term follow-up reportEmin Cumhur Sener
Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey
Ophthalmology 110:1230-6. 2003..The purpose of this study is to identify the characteristics of strabismus that coexist with nanophthalmos and to report the results of strabismus surgery performed on these small eyes...
- Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathyThaya Ramaesh
Department of Reproductive and Developmental Sciences, Genes and Development Group, Princess Alexandra Eye Pavilion, Royal Infirmary of Edinburgh, University of Edinburgh, Edinburgh, Scotland, United Kingdom
Invest Ophthalmol Vis Sci 44:1871-8. 2003..To investigate corneal abnormalities in heterozygous Pax6(+/Sey-Neu) (Pax6(+/-), small eye) mice and compare them with aniridia-related keratopathy in PAX6(+/-) patients...
- Twin brothers with MIDAS syndrome and XX karyotypeA Anguiano
Cytogenetics Department, Quest Diagnostics, Nichols Institute, San Juan Capistrano, California, USA
Am J Med Genet A 119:47-9. 2003..The possible involvement of the heart, only in the form of cardiomyopathy with arrhythmia is emphasized. Both twins had a selective X-inactivation of the derivative chromosome X with Xp/Yp translocation...
- Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine proteaseAndreas Gal
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Am J Hum Genet 88:382-90. 2011Posterior microphthalmos (MCOP) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length...
- Posterior segment changes associated with posterior microphthalmosMoncef Khairallah
Department of Ophthalmology, Fattouma Bourguiba University Hospital, 5019 Monastir, Tunisia
Ophthalmology 109:569-74. 2002To characterize and analyze the posterior segment ocular involvement in patients with posterior microphthalmos.
- Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasiaJasmine C Y Wong
Program in Genetics and Genomics Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada
Hum Mol Genet 12:2063-76. 2003..Taken together, our results suggest that the FA pathway plays a role in the maintenance of reproductive germ cells and in meiotic recombination...
- Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper proteinC A Hodgkinson
Laboratory of Viral and Molecular Pathogenesis, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892
Cell 74:395-404. 1993..The multiple spontaneous and induced mutations available at mi provide a unique biological resource for studying the role of a bHLH-ZIP protein in mammalian development...
- Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation patternT Ogata
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
Hum Genet 103:51-6. 1998..This supports the notion that functional absence of the MLS gene caused by inactivation of the normal X chromosome plays a pivotal role in the development of MLS in patients with Xp22 monosomy...
- Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neckB R Paulger
Division of Dermatology, University of Texas Health Science Center, San Antonio 78284, USA
Pediatr Dermatol 14:26-30. 1997..We report the thirteenth case and review the clinical and cytogenetic aspects of this disorder. In addition we discuss new findings pertaining to the histopathology of the skin lesions...
- Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea)Catherine J Cape
Department of Ophthalmology, Westchester Medical Center, Valhalla, NY 10595, USA
Arch Ophthalmol 122:1070-4. 2004
- Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndromeSiddharth K Prakash
Department of Molecular and Human Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 11:3237-48. 2002..Through the study of these genetically engineered mice we demonstrate that loss of HCCS causes the male lethality of MLS syndrome...
- Genetic background influences cataractogenesis, but not lens growth deficiency, in Cx50-knockout miceDwan A Gerido
Department of Physiology and Biophysics, State University of New York, Stony Brook, New York 11794 8661, USA
Invest Ophthalmol Vis Sci 44:2669-74. 2003....
- Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophySibel Ugur Iseri
Department of Physiology, Anatomy, and Genetics, University of Oxford, Le Gros Clark Building, South Parks Rd, Oxford, OX1 3QX, UK
Hum Genet 128:51-60. 2010..A further study of individuals with retinal degenerative conditions may reveal a causative role for heterozygous mutations in VSX2...
- Posterior microphthalmos with uveal effusion managed by lamellar sclerotomiesRamadan Al Turki
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia
Ann Ophthalmol (Skokie) 40:193-6. 2008A 21-year-old male with bilateral low visual acuity since childhood was diagnosed with posterior microphthalmos. He underwent scleral windows surgery for one eye...
- The management of orbital cysts associated with congenital microphthalmos and anophthalmosC J McLean
Moorfields Eye Hospital, City Road, London, UK
Br J Ophthalmol 87:860-3. 2003To study the management of the orbital cysts present in a group of patients with anophthalmos and microphthalmos.
- A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15L Morle
Centre de Genetique Moleculaire et Cellulaire, CNRS UMR 5534, Universite Claude Bernard Lyon I, 69622 Villeurbanne, France
Am J Hum Genet 67:1592-7. 2000..77, at recombination fraction 0.00). Haplotype analyses supported the location of the disease-causing gene in a 13.8-cM interval between loci D15S1002 and D15S1040...
- Ultrasound biomicroscopy and OCT findings in posterior microphthalmosH Erdol
Department of Ophthalmology, Karadeniz Technical University, School of Medicine, Trabzon Turkey
Eur J Ophthalmol 18:479-82. 2008Posterior microphthalmos is a rare ocular abnormality. The authors report two siblings with bilateral posterior microphthalmos.
- Pervasive ocular anomalies in posterior microphthalmosSamantha Slotnick
State University of New York, State College of Optometry, New York, New York 10541, USA
Optometry 78:71-7. 2007Posterior microphthalmos is a relatively rare condition that has been reported to coexist with several other ophthalmic conditions...
- Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmosJuan Carlos Zenteno
Faculty of Medicine, Department of Biochemistry, National Autonomous University of Mexico, Mexico City, Mexico
Am J Med Genet A 155:1001-6. 2011....
- Results of lacrimal assessment in patients with congenital clinical anophthalmos or blind microphthalmosM P Schittkowski
University Eye Department, Rostock University, Doberaner Strasse 140, D 18055 Rostock, Germany
Br J Ophthalmol 91:1624-6. 2007To report clinical findings relating to the lacrimal system in congenital clinical anophthalmos and severe blind microphthalmos.
- Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypesRavinesh A Kumar
Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, 950 West 28th Ave, Vancouver, V5Z 4H4, Canada
BMC Med Genet 8:48. 2007..In this work, SNX3 was sequenced in three patients not previously studied for this gene. In addition, we test the hypothesis that mutations in the neighbouring gene NR2E1 may underlie MMEP and related phenotypes...
- Corneal pathology in microphthalmia with linear skin defects syndromeRashmi Kapur
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, USA
Cornea 27:734-8. 2008..To describe the histopathology of the cornea in microphthalmia with linear streaks (MLS) syndrome...
- Recognizing posterior microphthalmosArif O Khan
Ophthalmology 113:718. 2006
- The management of secondary glaucoma in nanophthalmic patientsShengsong Huang
Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou 510060, China
Yan Ke Xue Bao 18:156-9. 2002..To investigate the clinical characteristcs, management of secondary glaucoma in nanophthalmos, and the prevention of its complications...
- Complete elimination of incessant polymorphic ventricular tachycardia in an infant with MIDAS syndrome: use of endocardial mapping and radiofrequency catheter ablationThomas Paul
Children s Heart Program of South Carolina, Medical University of South Carolina, Charleston 29425, USA
J Cardiovasc Electrophysiol 13:612-5. 2002..This report demonstrates the usefulness and safety of radiofrequency catheter ablation in an infant with polymorphic VT who was unresponsive to medical therapy...
- Posterior microphthalmos pigmentary retinopathy syndromeNiranjan Pehere
Jasti V Ramanamma Children s Eye Care Center, LV Prasad Eye Institute, Kallam Anji Campus, Banjara Hills, Hyderabad, India
Doc Ophthalmol 122:127-32. 2011Posterior Microphthalmos Pigmentary Retinopathy Syndrome (PMPRS). Posterior microphthalmos (PM) is a relatively infrequent type of microphthalmos where posterior segment is predominantly affected with normal anterior segment measurements...
- Changes of scleral sulfated proteoglycans in three cases of nanophthalmosTakeo Fukuchi
Division of Ophthalmology and Visual Science, Niigata University, Niigata, Japan
Jpn J Ophthalmol 53:171-5. 2009..To examine the composition of scleral sulfated proteoglycans in three nanophthalmic eyes by electron microscopic histochemistry...
- Insight into the microphthalmia geneK J Moore
Trends Genet 11:442-8. 1995..It is also the gene mutated in some patients with the human deafness syndrome, Waardenburg's syndrome type II, and hence helps to understand this syndrome...
- High beta-trace protein concentration in the fluid of an orbital cyst associated with bilateral colobomatous microphthalmosC E Decock
Br J Ophthalmol 91:836. 2007
- Bilateral aplasia of the optic nerves, chiasm, and tracts in an otherwise healthy infantI U Scott
Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, FL 33136, USA
Am J Ophthalmol 124:409-10. 1997..To report bilateral aplasia of the optic nerves, chiasm, and tracts in an otherwise healthy infant...
- Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) geneM Tassabehji
Department of Medical Genetics, St Mary s Hospital, Manchester, UK
Nat Genet 8:251-5. 1994..Here we show that affected individuals in two WS2 families have mutations affecting splice sites in the MITF gene...
- Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequencesE Steingrimsson
Mammalian Genetics Laboratory, ABL Basic Research Program, NCI Frederick Cancer Research and Development Center, Frederick, Maryland 21702
Nat Genet 8:256-63. 1994..These molecular data, combined with the extensive body of genetic data accumulated for murine mi, shed light on the phenotypic and developmental consequences of mi mutations and offer a mouse model for WS2...
- Ocular coloboma: a reassessment in the age of molecular neuroscienceC Y Gregory-Evans
Department of Visual Neuroscience, Faculty of Medicine, Imperial College London, London, UK
J Med Genet 41:881-91. 2004..In general, severity of disease can be linked to the temporal expression of the gene, but this is modified by factors such as tissue specificity of gene expression and genetic redundancy...
- A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutationRaul Ayala-Ramirez
Department of Retina, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico
Mol Vis 12:1483-9. 2006To describe the clinical and genetic characteristics of a new ophthalmic syndrome, which consists of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen, that segregates as an autosomal recessive trait in a ..
- Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotypeOliver Puk
Institute of Developmental Genetics, Helmholtz Center Munich, German Research Center for Environmental Health, Neuherberg, Germany
Invest Ophthalmol Vis Sci 49:1525-32. 2008..The purpose of the study was the characterization of the novel small-eye mutant Aey12 in the mouse...
- Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesisChun hong Xia
School of Optometry and Vision Science Program, University of California at Berkeley, Berkeley, CA 94720, USA
Development 133:2033-40. 2006..This explains why and how different connexin mutations lead to a variety of cataracts. The principle of this explanation can also be applied to mutations of other connexin isoforms that cause different diseases in other organs...
- A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusenJaume Crespí
Department of Ophthalmology, Autonomous University of Barcelona, Hospital de Sant Pau y de la Santa Creu, Barcelona, Spain
Am J Ophthalmol 146:323-328. 2008To describe the clinical and genetic characteristics of the second family with a recently described recessive syndrome characterized by posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disk drusen.
- Functional analysis of human mutations in homeodomain transcription factor PITX3Satoru Sakazume
Department of Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
BMC Mol Biol 8:84. 2007..The functional consequences of these human mutations remain unknown...
- Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropizationOlof H Sundin
Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 92889, USA
Ophthalmic Genet 29:1-9. 2008..Recessive nanophthalmos is caused by severe mutations in the MFRP gene, which encodes a Frizzled-related transmembrane protein that is selectively expressed in the retinal pigment epithelium (RPE) and ciliary body...
- Microphthalmia, persistent hyperplastic hyaloid vasculature and lens anomalies following overexpression of VEGF-A188 from the alphaA-crystallin promoterCatrin S Rutland
School of Biomedical Sciences, Medical School, University of Nottingham, Nottingham, United Kingdom
Mol Vis 13:47-56. 2007..This study aimed to evaluate the effects of VEGF-A(188) overexpression on growth of ocular tissue components...
- Autosomal dominant mouse cataract (Lop-10). Consistent differences of expression in heterozygotesP E Runge
Jules Stein Eye Institute, UCLA Medical Center
Invest Ophthalmol Vis Sci 33:3202-8. 1992..Lop-10 appeared to be an excellent model for studying variable expression of a dominant gene...
- Phacoemulsification and intraocular lens implantation in nanophthalmic eyes: report of a medium-size seriesAnne Faucher
Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada
J Cataract Refract Surg 28:837-42. 2002..To evaluate the outcomes in nanophthalmic eyes that had phacoemulsification and intraocular lens (IOL) implantation...
- Cataract surgery in patients with nanophthalmos: results and complicationsWayne Wu
Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, USA
J Cataract Refract Surg 30:584-90. 2004..To evaluate the results and complications of cataract surgery in patients with nanophthalmos...
- Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and riskShaheen P Shah
International Centre for Eye Health, London School of Hygiene and Tropical Medicine, London, United Kingdom
Invest Ophthalmol Vis Sci 52:558-64. 2011Anophthalmos, microphthalmos, and typical coloboma (AMC) form an interrelated spectrum of congenital eye anomalies that can cause significant visual loss and cosmetic disfigurement in children...
- Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14Hui Li
State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, 650223, China
Hum Genet 122:589-93. 2008..Our results further underlined the degree of heterogeneity in microphthalmia from Chinese background and localized a novel gene which regulates eye embryogenesis...
- A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defectHatem Zayed
Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143 0748, USA
Am J Med Genet A 152:916-23. 2010....
- Requirements for optical services in children with microphthalmos, coloboma and microcornea in southern IndiaS J Hornby
International Centre for Eye Health, Institute of Ophthalmology, London, UK
Eye (Lond) 14:219-24. 2000The aim of the study was (1) to determine the need for spectacles in children in Southern India with coloboma, microphthalmos and microcornea, (2) to describe their refractive errors and (3) to assess their needs for low vision aids (LVAs)...
- Unique and redundant connexin contributions to lens developmentThomas W White
Department of Physiology and Biophysics, State University of New York at Stony Brook, Stony Brook, NY 11794, USA
Science 295:319-20. 2002..These data show that intrinsic properties of Cx50 were required for cellular growth, whereas nonspecific restoration of communication by Cx46 maintained differentiation...
- Piggyback foldable intraocular lens implantation in patients with microphthalmosT Oshika
Department of Ophthalmology, University of Tokyo School of Medicine, Tokyo, Japan
J Cataract Refract Surg 27:841-4. 2001..To evaluate the clinical results of phacoemulsification and implantation of 2 foldable acrylic intraocular lenses (IOLs) in microphthalmic eyes...
- Unilateral optic nerve aplasia associated with rudimental retinal vasculatureRoberto Caputo
Pediatric Ophthalmology Unit, Meyer Children s Hospital, Viale Pieraccini, 24, 50100, Florence, Italy
Int Ophthalmol 29:517-9. 2009..It is frequently associated with other ocular and central nervous system anomalies. In this paper, we describe a case of ONA associated with microphthalmos and a rudimental retinal vasculature in an otherwise healthy infant.
- Roles of cell-adhesion molecules nectin 1 and nectin 3 in ciliary body developmentMaiko Inagaki
Department of Molecular Biology and Biochemistry, Osaka University Graduate School of Medicine Faculty of Medicine, Suita 565 0871, Japan
Development 132:1525-37. 2005....
- Eye birth defects in humans may be caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancyStella J Hornby
Department of Ophthalmology, Radcliffe Infirmary, Woodstock Road, Oxford OX2 6HE, U K
Med Sci Monit 9:HY23-6. 2003..However, this form of intervention would be much more difficult with vitamin A, which is itself a powerful teratogen if present in excess...
- Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmiaTristan White
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Mol Vis 14:2458-65. 2008..Vitamin A metabolism is vital to normal eye development and growth. This study explores the association of these genes in a cohort of subjects with A/M...
- Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmiaJie Zhou
Division of Ophthalmology, Children s Hospital of Philadelphia, Philadelphia, PA, USA
Mol Vis 14:583-92. 2008..In this study, we evaluated 34 anophthalmic/microphthalmic patient DNA samples (two sets of siblings included) for mutations and sequence variants in SOX2 and CHX10...
- CRYBA4, a novel human cataract gene, is also involved in microphthalmiaGail Billingsley
Program of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
Am J Hum Genet 79:702-9. 2006..Protein folding would consequently be impaired, most probably leading to a structure with reduced stability in the mutant. This is the first report linking mutations in CRYBA4 to cataractogenesis and microphthalmia...
- Orbital aspiration as treatment of microphthalmos with orbital cyst: a case reportKitthisak Kitthaweesin
Department of Ophthalmology, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand
J Med Assoc Thai 85:1024-7. 2002..Pre- and post-operative photographs and magnetic resonance imaging indicated a safe, simple single orbital aspiration as an alternative treatment for mild microphthalmos with an orbital cyst.
- The epidemiology of anophthalmia and microphthalmia in SwedenBengt Kallen
Tornblad Institute, University of Lund, Lund, Sweden
Eur J Epidemiol 20:345-50. 2005..Maternal smoking in early pregnancy seemed to increase the risk for anophthalmia or microphthalmia in the absence of a coloboma...
- Cataract surgery in relative anterior microphthalmosBharti R Nihalani
Iladevi Cataract and IOL Research Centre, Raghudeep Eye Clinic, Ahmedabad, India
Ophthalmology 112:1360-7. 2005To determine the prevalence of relative anterior microphthalmos (RAM) and evaluate intraoperative performance and surgical outcome in eyes with RAM undergoing cataract surgery.
- Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataractsT W White
Department of Cell Biology and Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
J Cell Biol 143:815-25. 1998..Furthermore, these data indicate that unique functional properties of both Cx46 and Cx50 are required for proper lens development...
- Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance SystemR Brian Lowry
Alberta Congenital Anomalies Surveillance System, Health Surveillance, Alberta Health and Wellness, Calgary, Alta
Can J Ophthalmol 40:38-44. 2005..Since this increase was at variance with the previous 19 years, we performed a review to determine whether the increase was true and, if so, the possible explanation...
- SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletionsP Bakrania
Dept of Physiology, Anatomy and Genetics, Le Gros Clark Building, South Parks Road, Oxford, OX1 3QX, United Kingdom
Br J Ophthalmol 91:1471-6. 2007....
- A mutation of the WFDC1 gene is responsible for multiple ocular defects in cattleAbdol Rahim Abbasi
Graduate School of Natural Science and Technology, Okayama University, Tsushima Naka, Okayama 700 8530, Japan
Genomics 94:55-62. 2009..The present finding demonstrated the essential role of WFDC1 in mammalian eye development...
- Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridizationColyn Cargile Cain
Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Prenat Diagn 27:373-9. 2007..To explore the utility of comparative genomic hybridization to BAC arrays (array CGH) for prenatal diagnosis of microphthalmia and linear skin defects syndrome...
- Hereditary high hypermetropia in the Faroe IslandsJosefine Fuchs
Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark
Ophthalmic Genet 26:9-15. 2005..To characterize the phenotype of two families with high hypermetropia from the Faroe Islands...
- Human microphthalmia associated with mutations in the retinal homeobox gene CHX10E Ferda Percin
Molecular Ophthalmic Genetics Laboratory, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, Connecticut, USA
Nat Genet 25:397-401. 2000..The strong conservation in vertebrates of the CHX10 sequence, pattern of expression and loss-of-function phenotypes demonstrates the evolutionary importance of the genetic network through which this gene regulates eye development...
- Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmiaAdele Schneider
Albert Einstein Medical Center, Department of Pediatrics Division of Genetics, Milwaukee, Wisconsin, USA
Am J Med Genet A 149:2706-15. 2009..In addition, we report a new familial case of affected siblings with maternal mosaicism for the identified SOX2 mutation, which further underscores the importance of parental testing to provide accurate genetic counseling to families...
- Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Christelle Golzio
INSERM U781, Hopital Necker, Paris Cedex, France
Am J Hum Genet 80:1179-87. 2007....
- A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 miceBo Chang
The Jackson Laboratory, Bar Harbor, ME, USA
Hum Mol Genet 11:507-13. 2002..These mouse models will be useful for investigating the mechanistic relationship between gap junction impairment and cataract formation...
- Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997Gary M Shaw
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, USA
Am J Med Genet A 137:36-40. 2005..These data show descriptive epidemiologic features of anophthalmia and bilateral microphthalmia...
- Injectable self inflating hydrogel pellet expanders for the treatment of orbital volume deficiency in congenital microphthalmos: preliminary results with a new therapeutic approachM P Schittkowski
Department of Opthalmology, University of Rostock, Doberaner Strasse 140, D 18055 Rostock, Germany
Br J Ophthalmol 90:1173-7. 2006Children with congenital microphthalmos are usually able to wear an eye prosthesis but the cosmetic aspect is determined by the size of the orbital volume deficiency...
- Early and late onset fetal microphthalmiaShraga Blazer
Department of Neonatology, Rambam Medical Center, Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
Am J Obstet Gynecol 194:1354-9. 2006..The purpose of this study was to present sonographic and pathologic findings in early and late onset fetal microphthalmia...
- Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and colobomaAlexander Wyatt
Dept of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX
Hum Mutat 29:E278-83. 2008..Our data suggest that OTX2 mutations and deletions account for 2-3% of AM cases...
- Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalitiesCarla Bidinost
Health Research and Education Center, Washington State University Spokane, Spokane, Washington, USA
Invest Ophthalmol Vis Sci 47:1274-80. 2006..Also studied were two siblings who were homozygous for the PITX3 mutation who had microphthalmia and significant neurologic impairment...
- Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001Mathias B Forrester
Hawaii Birth Defects Program, Honolulu, Hawaii 96817 5157, USA
Birth Defects Res A Clin Mol Teratol 76:187-92. 2006..Population-based epidemiologic data on anophthalmia and microphthalmia in the United States are limited and have come mainly from only a few states. The intent of this study was to report on the epidemiology of these eye defects...
- Environmental risk factors in congenital malformations of the eyeStella J Hornby
Department of Epidemiology and International Eye Health, Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
Ann Trop Paediatr 22:67-77. 2002....
- Congenital bilateral microphthalmos after gestational syphilisRosa M Navas
Obstetrics and Gynecology, Simon Bolivar General Hospital, Ocumare del Tuy, Miranda, Venezuela
Indian J Pediatr 73:935-6. 2006Congenital microphthalmos and anophthalmos are currently considered rare conditions. Many infectious agents have been previously associated with these pathologies, but rarely Treponema pallidum...
- Colobomatous microphthalmia and orbital neuroglial cyst: case reportLourdes M Garcia
Department of Pediatric Ophthalmology, The Center for Genetic Eye Disease, Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland, OH 44195, USA
Ophthalmic Genet 23:37-42. 2002..The cyst recurred two months following aspiration. It was then completely excised and histopathologic studies demonstrated a cyst containing neuroglial tissue. No recurrence was observed for 12 months following excision...
- Ocular abnormalities in mice lacking the Ski proto-oncogenePeter McGannon
Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland, OH 44195, USA
Invest Ophthalmol Vis Sci 47:4231-7. 2006..This study involved a novel mouse model of PHPV, generated by a null mutation of the Ski proto-oncogene, that displays other anterior segment and retinal malformations often found in human cases of PHPV...
- BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defectsEmma Hilton
Academic Unit of Medical Genetics, St Mary s Hospital, Manchester, UK
Eur J Hum Genet 17:1325-35. 2009....
- Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?David Ng
Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
Am J Med Genet 110:308-14. 2002..In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders...
- Geographical variation in anophthalmia and microphthalmia in England, 1988-94H Dolk
Environmental Epidemiology Unit, Department of Public Health and Policy, London School of Hygiene and Tropical Medicine, London WC1E 7HT
BMJ 317:905-9; discussion 910. 1998..To investigate the geographical variation and clustering of congenital anophthalmia and microphthalmia in England, in response to media reports of clusters...
- Absence of SIX6 mutations in microphthalmia, anophthalmia, and colobomaSaima Aijaz
Institute of Ophthalmology, University College London, United Kingdom
Invest Ophthalmol Vis Sci 45:3871-6. 2004..To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6...
- Linkage mapping of ovine microphthalmia to chromosome 23, the sheep orthologue of human chromosome 18Jens Tetens
Institute of Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Germany
Invest Ophthalmol Vis Sci 48:3506-15. 2007..To characterize the phenotype and map the locus responsible for autosomal recessive inherited ovine microphthalmia (OMO) in sheep...
- MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndromeR Happle
Department of Dermatology, University of Marburg, Germany
Am J Med Genet 47:710-3. 1993..3. This new X-linked male-lethal trait should be distinguished from focal dermal hypoplasia that will be found to map elsewhere on the X-chromosome...
- Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmiaLisa A Schimmenti
UCLA Department of Human Genetics, Pediatrics, The Jules Stein Eye Institute and Mental Retardation Research Center, Los Angeles, California, USA
Am J Med Genet A 116:215-21. 2003..A novel 24 bp deletion in the gene SHH was identified in these affected family members, and cosegregated with the phenotype. This is the first report of the association of SHH mutations and uveoretinal coloboma...
- Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndromeS Forrester
Department of Pediatrics, Southern Illinois University School of Medicine, Springfield 62794-9658, USA
Am J Med Genet 98:92-100. 2001..An obligate carrier had abnormally modeled ears and syndactyly of the 2nd to 3rd toes bilaterally. Linkage and haplotype analysis in this family indicates that the gene is located in a 17.65-cM region on chromosome region Xq27-Xq28...
- Genetic analysis of congenital diaphragmatic herniaAnne Slavotinek; Fiscal Year: 2006..abstract_text> ..
- ETHANOL, RETINOIDS, AND CONGENITAL HEART MALFORMATIONSJanee Gelineau van Waes; Fiscal Year: 2003..abstract_text> ..
- Proteomic Analysis of the RetinaMONICA JABLONSKI; Fiscal Year: 2007..These studies will also generate the framework for future project periods in which the precise molecular mechanisms and detailed pathways that control photoreceptor outer segment assembly will be determined. [unreadable] [unreadable]..
- Regulation of parietal bone differentiationVenkatesh Govindarajan; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- Molecular Genetics of X-linked CataractsKristen Huang; Fiscal Year: 2007..Identifying the XLCD gene would contribute to the our understanding of the molecular events involved in lens development. ..
- Molecular Regulation of Ocular Gland DevelopmentVenkatesh Govindarajan; Fiscal Year: 2010..In addition, the proposed studies will, in the long-term, allow the development of novel therapeutic approaches for treatment of patients with dry eye syndromes. ..