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Welcome to the Pubget Medical Subject Headings (MESH) browser. Click on a topic or subtopic below to explore related papers. In the gold box is the most recent paper about the current MESH term, and below are 20 related papers.
Eye Diseases, Hereditary (10):
Recent article
Eye Diseases, Hereditary
Ophthalmology (117)11 2010
Abstract
Congenital cranial dysinnervation disorders (CCDDs) are developmental abnormalities involving the hypoplasia or aplasia of the cranial nerves with muscle dysinnervation. This study aimed to determine if congenital superior oblique palsy with superior oblique hypoplasia also can be classified as a CC...
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PMID: 20570358
PDF is available here.
PDF is available here.
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Abstract
I study was registered at http://www.clinicaltrials.gov (NCT00478530). RESULTS All patients showed significant improvements in peripheral visual field (mean deviation improved from -4.77+/-2.0 to -3.28+/-2.28, p=0.009, t test) and a highly significant improvement in rod recovery rates measured elect...
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PMID: 19955196
PDF is available here.
PDF is available here.
Ophthalmic Research (44)3 2010
Abstract
Mitochondria are critical for ocular function as they represent the major source of a cell's supply of energy and play an important role in cell differentiation and survival. Mitochondrial dysfunction can occur as a result of inherited mitochondrial mutations (e.g. Leber's hereditary optic neuropath...
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PMID: 20829642
PDF is available here.
PDF is available here.
Abstract
Entry into the genetic testing system often is via the patient's ophthalmologist. Collaboration with geneticists and genetic counselors, use of web sites to keep up with the ever-changing availability and detection rates, and knowledge of clinical trials, when combined with excellent clinical diagno...
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PMID: 20103038
PDF is available here.
PDF is available here.
Human Genetics (127)1 2010
Abstract
Human Genetics (127)1 2010
Abstract
Revue medicale de Liege (64)12 2009
Abstract
The main clinical manifestations of pseudoxanthoma elasticum (PXE) alter small arteries, the eyes and the skin. At the microanatomical level, the feature in common is an alteration of the elastic fibres that appear dystrophic and in part calcified. The disease is genetically transmitted as an autoso...
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PMID: 20143746
PDF is available here.
PDF is available here.
Revue medicale de Liege (64)12 2009
Abstract
Pseudoxanthoma elasticum is a heritable connective-tissue disorder affecting the eye, skin, and vascular system. The aim of our study was to specify the epidemiological and clinical characteristics of this disease in a hospital series. A total of 22 patients were included during a period of 19 years...
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PMID: 20143747
PDF is available here.
PDF is available here.
Journal of Human Genetics (54)10 2009
Abstract
We report on a clinical and genetic investigation of CACD in a large Tunisian consanguineous family with 21 affected individuals in three living generations. CACD has been associated with drusen in some of them. Linkage analysis and mutational screening exclude linkage to the PRPH2/RDS gene and to t...
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PMID: 19696794
PDF is available here.
PDF is available here.
Human Genetics (126)2 2009
Abstract
Abstract
Revue medicale suisse (5)186 2009
Abstract
Recently, preliminary results of three clinical gene therapy trials for early onset retinitis pigmentosa--Leber congenital amaurosis--suggested that treating this degenerative retinal disease by gene transfection can be safe and efficient to restore a visual function. The definitive validation of th...
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PMID: 19238930
PDF is available here.
PDF is available here.
General dentistry (57)5 2009
Abstract
Molecular Vision (15) 2009
Abstract
COL18A1 mutations involved in Knobloch syndrome have a distribution bias toward the coding exons of the C-terminal end. Large deletions must also be considered when point mutations are not identified in patients with characteristic KS phenotype. We report, for the first time, lack of type XVIII coll...
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PMID: 19390655
PDF is available here.
PDF is available here.
Abstract
We have taken advantage of the ability of aminoglycoside drugs to suppress such nonsense mutations and partially restore full-length, functional protein in a zebrafish model of choroideraemia (chm(ru848); juvenile chorio-retinal degeneration) and in two models of ocular coloboma (noi(tu29a) and gup(...
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PMID: 18809619
PDF is available here.
PDF is available here.
Abstract
Presence or absence of family history is not associated with more severe clinical disease, at least when each marker for severity is considered independently. The results of this analysis are important for genetic studies of keratoconus in that it will allow recruitment of keratoconus patients acros...
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PMID: 18653604
PDF is available here.
PDF is available here.
Ophthalmic Genetics (29)2 2008
Abstract
We report a case of KNO confirmed by direct sequence analysis of the COL18A1 gene with typical ocular features, and previously unreported systemic features: occipital hair tuft with transient CSF leak and bilateral renal abnormalities. This case illustrates a new phenotypic variant of this syndrome....
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PMID: 18484314
PDF is available here.
PDF is available here.
Abstract
We recently found mutations in a novel gene FRMD7 (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye movement recordings of 90 subjects with mutation in the gene (FRMD7 group) to 48 subj...
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PMID: 18372314
PDF is available here.
PDF is available here.
Abstract
Archives of Ophthalmology (126)3 2008
Abstract
Abstract
Abstract
Vision Research (48)3 2008
Abstract
We have generated isoform-specific antibodies and examined their expression and localization in the retina. Using sucrose-gradient centrifugation, immunofluorescence and co-immunoprecipitation methods, we show that RPGR isoforms localize to distinct sub-cellular compartments in mammalian photorecept...
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PMID: 17904189
PDF is available here.
PDF is available here.
Vision Research (48)3 2008
Abstract
Gene therapy represents a promising therapeutic option for many inherited and acquired retinal diseases. Recombinant adeno-associated viral vectors (AAV) are the most efficient tools to transfer genes in vivo to the retina. The recent identification of dozens of novel AAV serotypes enormously expand...
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PMID: 17923143
PDF is available here.
PDF is available here.
Vision Research (48)3 2008
Abstract
We summarize the advantages of nanotechnology as a common gene delivery strategy with emphasis on ocular therapy. Particular attention is paid to the CK30-PEG compacted DNA nanoparticles that have been successfully tested in the eye, lung, and brain. These particles resulted in higher transfection e...
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PMID: 17825344
PDF is available here.
PDF is available here.
Vision Research (48)3 2008
Abstract
We collected six families with NCMD including 75 members, and conducted clinical characterization and genetic mapping for these families. Forty-five patients were diagnosed as NCMD; all six NCMD families were mapped to MCDR1 locus using genetic linkage analysis. MCDR1 interval was refined to 3 cM (1...
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PMID: 17976682
PDF is available here.
PDF is available here.
Vision Research (48)3 2008
Abstract
We examined familial aggregation and risk of age-related macular degeneration in the Utah population using a population-based case-control study. Over one million unique patient records were searched within the University of Utah Health Sciences Center and the Utah Population Database (UPDB), identi...
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PMID: 18252239
PDF is available here.
PDF is available here.
Abstract
Abstract
These results indicate that the KCNJ13 R162W mutation can cause SVD and further show that vitreoretinal degeneration can arise through mutations in genes whose products are not structural components of the vitreous....
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PMID: 18179896
PDF is available here.
PDF is available here.
Human Mutation (29)1 2008
Abstract
We describe here two mutations in exon 2 of COL2A1 in three patients with predominantly ocular Stickler syndrome: Cys64Stop in two patients, and a novel structural mutation, Cys57Tyr, in one patient. RT-PCR of total lymphoblast RNA from one patient with the Cys64Stop mutation revealed that only the...
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PMID: 17721977
PDF is available here.
PDF is available here.
Drugs in Research and Development (9 Suppl 1) 2008
Abstract
L-carnitine plays a role in physiological reactions throughout the body, including sugar aerobic metabolism, oxidative phosphorylation and, most importantly, fatty acid oxidation. In addition, L-carnitine has antiapoptotic, antioxidative and osmolytic properties, which may be useful in the treatment...
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PMID: 19105589
PDF is available here.
PDF is available here.
Abstract
We report the first clinical case of FEVR associated with hyaloid artery persistence. An 18-year-old Tunisian woman and four members of her family (mother, two brothers, and sister) presented signs of FEVR. Examination of this patient also revealed functional hyaloid artery persistence in her right...
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PMID: 18401292
PDF is available here.
PDF is available here.
Abstract
Abstract
A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females....
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PMID: 17962394
PDF is available here.
PDF is available here.
Toxicology (242)1-3 2007
Abstract
We previously found that the ATP content in UPL rat lenses decreases during cataract development, and the decrease in ATP content causes Ca(2+)-ATPase dysfunction resulting in an elevation in Ca(2+) and cataract development. In addition, we reported that the oral administration of disulfiram and ami...
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PMID: 17936468
PDF is available here.
PDF is available here.
Human Genetics (122)5 2007
Abstract
Abstract
Early involvement of the vitreous occurs in a rare transthyretin mutation of FAP, with increased vitreous levels of VEGF....
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PMID: 17522146
PDF is available here.
PDF is available here.
Journal of Biochemistry (142)5 2007
Abstract
We investigated the involvement of interleukin (IL)-18, which leads to interferon-gamma, in UPL rat lenses. The opacification of UPL rat lenses starts at 39 days of age. The gene expression levels causing IL-18 activation (IL-18, IL-18 receptor and caspase-1) are increased at 32 days of age, and the...
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PMID: 18006521
PDF is available here.
PDF is available here.
Abstract
This study shows that despite complicated surgery and often multiple procedures, good anatomical outcomes were achieved as well as useful functional visual results after retinal detachment surgery in Stickler patients. It would also appear that when comparing the group of Stickler patients from 1986...
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PMID: 17579881
PDF is available here.
PDF is available here.
Hereditas (Beijing) (29)11 2007
Abstract
In the past two decades, it has been found that mitochondrial DNA (mtDNA) mutations are associated with a wide range of human diseases, from those affecting single organ to those with multi-system involvement. The purpose of this review is to explore the relationship between mtDNA mutations and huma...
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PMID: 17989055
PDF is available here.
PDF is available here.
Abstract
We are to do so by studying cases of CCO. Peters' anomaly is too imprecise a term to describe cases of CCO. This classification of primary and secondary CCO with its subclassifications cannot be made by clinical examination alone and necessitates other diagnostic assessments. It is time to only acce...
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PMID: 17914436
PDF is available here.
PDF is available here.
Abstract
Over the last decade there have been major advances in our understanding of the molecular pathology of inherited retinal dystrophies. This paper reviews recent advances in the identification of genetic mutations underlying infantile-onset inherited retinal disorders and considers how this knowledge...
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PMID: 17914438
PDF is available here.
PDF is available here.
Abstract
The OGP multidisciplinary aspects are described. Of the 61 patients surveyed, 98% stated that they were satisfied with the OGP; 93%-96% of patients were content with "one day of appointments", "understanding of eye problem", and "coordination of ancillary tests such as visual fields test, electrophy...
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PMID: 17891201
PDF is available here.
PDF is available here.
Journal of the Neurological Sciences (260)1-2 2007
Abstract
A family with familial amyloid polyneuropathy (FAP) due to a transthyretin (TTR) Leu58Arg mutation was investigated clinicopathologically. The proband presented with sensorimotor-autonomic polyneuropathy and autopsy demonstrated massive amyloid deposition in the peripheral nerves and heart. However,...
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PMID: 17466336
PDF is available here.
PDF is available here.
Abstract
13 of 14 patients had a highly abnormal vitreous appearance. One patient aged 11 presented with a total retinal detachment. Two other children aged 2 and 4 had bilateral flat multiple retinal tears on presentation. 10 of 12 patients refracted were myopic. Two patients had asymptomatic lens opacities...
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PMID: 17347327
PDF is available here.
PDF is available here.
Abstract
More than half of the BL/SVI causes are potentially avoidable. Cataract and corneal disorders related to measles or vitamin A deficiency were the major treatable and preventable causes. Declining proportions of childhood factors and corneal disorders over a period of 10-20 years could reflect improv...
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PMID: 17709582
PDF is available here.
PDF is available here.
Nature Genetics (39)8 2007
Abstract
We mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome. LRP2 encodes megalin, a multiligand uptake receptor that regulates levels of diverse circulating compounds. This work...
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PMID: 17632512
PDF is available here.
PDF is available here.
Abstract
The fellow socket in one patient was found to be anophthalmic and the fellow eye in the second patient was highly myopic. Clinical, imaging [ultrasonography, computerized tomography (CT) scan and magnetic resonance imaging (MRI)], and histopathologic evaluations were consistent with the diagnosis of...
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PMID: 17453153
PDF is available here.
PDF is available here.
Vision Research (47)15 2007
Abstract
We found that Rdh12 mutant proteins associated with LCA were inactive or displayed only residual activity when expressed in COS-7 and Sf9 cells, whereas those mutants that were considered polymorphisms were fully active. Thus, impairment of retinal structure and function for patients carrying these...
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PMID: 17512964
PDF is available here.
PDF is available here.
Veterinary Journal (174)1 2007
Abstract
Abstract
Human Genetics (121)5 2007
Abstract
Abstract
Abstract
Abstract
We report two unrelated cases that presented in the United States....
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PMID: 17572344
PDF is available here.
PDF is available here.
Ophthalmic Genetics (28)2 2007
Abstract
Degas had an eye disease that was first noticed in 1870 and that progressed throughout his life. He suffered from progressive bilateral central visual loss and light sensitivity which was most acutely recognized while he was visiting his mother's side of the family in New Orleans where he could not...
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PMID: 17558845
PDF is available here.
PDF is available here.
Archives of Ophthalmology (125)5 2007
Abstract
Development (134)8 2007
Abstract
We highlight recent advances that have led to a better understanding of the developmental processes and gene regulatory networks involved in lens development and disease....
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PMID: 17344231
PDF is available here.
PDF is available here.