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MeSH: abnormality očí

150 záznamů v Medvik Filtry

Článek

Axenfeld-Rieger syndrome: more than meets the eye

Reis, Linda M
Autor Reis, Linda M ORCID Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA
Maheshwari, Mohit
Autor Maheshwari, Mohit Department of Pediatric Radiology, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA
Capasso, Jenina
Autor Capasso, Jenina Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, Golisano Children's Hospital and University of Rochester, Rochester, New York, USA
Atilla, Huban
Autor Atilla, Huban Department of Ophthalmology, School of Medicine, Ankara University, Ankara, Turkey
Dudakova, Lubica
Autor Dudakova, Lubica Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
Thompson, Samuel
Autor Thompson, Samuel Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA
Zitano, Lia
Autor Zitano, Lia Department of Medical Genetics, Spectrum Health, Grand Rapids, Michigan, USA
Lay-Son, Guillermo
Autor Lay-Son, Guillermo Unidad de Genética, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile
Lowry, R Brian
Autor Lowry, R Brian Department of Clinical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada
Black, Jennifer
Autor Black, Jennifer Center for Development, Behavior, and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA

Journal of medical genetics. 2023 ; 60 (4) : 368-379. [pub] 20220726

J Med Genet
ISSN 1468-6244
Medvik
Zdroj

BACKGROUND: Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with distinct phenotypes, but our understanding is incomplete, complicated by the rarity of the condition. METHODS: Genetic and phenotypic characterisation of the largest reported ARS cohort through comprehensive genetic and clinical data analyses. RESULTS: 128 individuals with causative variants in PITX2 or FOXC1, including 81 new cases, were investigated. Ocular anomalies showed significant overlap but with broader variability and earlier onset of glaucoma for FOXC1-related ARS. Systemic anomalies were seen in all individuals with PITX2-related ARS and the majority of those with FOXC1-related ARS. PITX2-related ARS demonstrated typical umbilical anomalies and dental microdontia/hypodontia/oligodontia, along with a novel high rate of Meckel diverticulum. FOXC1-related ARS exhibited characteristic hearing loss and congenital heart defects as well as previously unrecognised phenotypes of dental enamel hypoplasia and/or crowding, a range of skeletal and joint anomalies, hypotonia/early delay and feeding disorders with structural oesophageal anomalies in some. Brain imaging revealed highly penetrant white matter hyperintensities, colpocephaly/ventriculomegaly and frequent arachnoid cysts. The expanded phenotype of FOXC1-related ARS identified here was found to fully overlap features of De Hauwere syndrome. The results were used to generate gene-specific management plans for the two types of ARS. CONCLUSION: Since clinical features of ARS vary significantly based on the affected gene, it is critical that families are provided with a gene-specific diagnosis, PITX2-related ARS or FOXC1-related ARS. De Hauwere syndrome is proposed to be a FOXC1opathy.

MeSH
abnormality očí * genetika diagnóza MeSH
forkhead transkripční faktory genetika MeSH
homeodoménové proteiny * genetika MeSH
lidé MeSH
mutace MeSH
přední segment oční abnormality MeSH
transkripční faktory genetika MeSH
Check Tag
lidé MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH
Research Support, N.I.H., Extramural MeSH

Článek

MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma

Clinical genetics. 2023 ; 104 (4) : 418-426. [pub] 20230615

Clin Genet
ISSN 1399-0004
Medvik
Zdroj

Four members of a three-generation Czech family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204. Chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C>T variant revealed 713 novel targets. Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. Haplotype analysis excluded relatedness with the original family reported to harbour the n.37C>T variant in MIR204. Identification of a second independent family confirms the existence of a distinct MIR204-associated clinical entity and suggests that the phenotype may also involve congenital glaucoma.

Článek

Genome-wide screening reveals the genetic basis of mammalian embryonic eye development

BMC biology. 2023 ; 21 (1) : 22. [pub] 20230203

BMC Biol
ISSN 1741-7007
Medvik
Zdroj

BACKGROUND: Microphthalmia, anophthalmia, and coloboma (MAC) spectrum disease encompasses a group of eye malformations which play a role in childhood visual impairment. Although the predominant cause of eye malformations is known to be heritable in nature, with 80% of cases displaying loss-of-function mutations in the ocular developmental genes OTX2 or SOX2, the genetic abnormalities underlying the remaining cases of MAC are incompletely understood. This study intended to identify the novel genes and pathways required for early eye development. Additionally, pathways involved in eye formation during embryogenesis are also incompletely understood. This study aims to identify the novel genes and pathways required for early eye development through systematic forward screening of the mammalian genome. RESULTS: Query of the International Mouse Phenotyping Consortium (IMPC) database (data release 17.0, August 01, 2022) identified 74 unique knockout lines (genes) with genetically associated eye defects in mouse embryos. The vast majority of eye abnormalities were small or absent eyes, findings most relevant to MAC spectrum disease in humans. A literature search showed that 27 of the 74 lines had previously published knockout mouse models, of which only 15 had ocular defects identified in the original publications. These 12 previously published gene knockouts with no reported ocular abnormalities and the 47 unpublished knockouts with ocular abnormalities identified by the IMPC represent 59 genes not previously associated with early eye development in mice. Of these 59, we identified 19 genes with a reported human eye phenotype. Overall, mining of the IMPC data yielded 40 previously unimplicated genes linked to mammalian eye development. Bioinformatic analysis showed that several of the IMPC genes colocalized to several protein anabolic and pluripotency pathways in early eye development. Of note, our analysis suggests that the serine-glycine pathway producing glycine, a mitochondrial one-carbon donator to folate one-carbon metabolism (FOCM), is essential for eye formation. CONCLUSIONS: Using genome-wide phenotype screening of single-gene knockout mouse lines, STRING analysis, and bioinformatic methods, this study identified genes heretofore unassociated with MAC phenotypes providing models to research novel molecular and cellular mechanisms involved in eye development. These findings have the potential to hasten the diagnosis and treatment of this congenital blinding disease.

MeSH
abnormality očí * genetika MeSH
anoftalmie * genetika MeSH
embryonální vývoj genetika MeSH
fenotyp MeSH
kolobom * genetika MeSH
lidé MeSH
mikroftalmie * genetika MeSH
myši knockoutované MeSH
myši MeSH
oči MeSH
savci MeSH
zvířata MeSH
Check Tag
lidé MeSH
myši MeSH
zvířata MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH
Research Support, N.I.H., Extramural MeSH

Článek

Komplikationen der anophthalmischen Orbita – Therapie und Nachsorge [Complications of anophthalmic orbits-Treatment and aftercare]

Die Ophthalmologie. 2023 ; 120 (2) : 150-159. [pub] 20230127

Ophthalmologie
ISSN 2731-7218
Medvik
Zdroj

The possible complications of anophthalmic eye sockets can occur due to many different pathomechanisms. A differentiation is made between allergic, infectious, inflammatory or mechanical causes. This article gives an overview on the different etiologies of socket complications with their pathophysiology and treatment options.