retinal dystrophy
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
... a retinal dystrophy diagnostic screening service by reducing costs associated with using a single capture reagent to analyse up to four samples in a single ...all retinal dystrophy genes that ...
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Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene
... The genetic data are summarized in the Table and Supplementary Table S2. The previously unreported subject PCI1, a female born to first cousin parents, was found to have a homozygous c.169G>C, p.(Gly57Arg) variant in ...
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Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family
... honeycomb retinal dystrophy (DHRD)/Malattia leventinese (ML) is caused by a single mutation in EFEMP1 that encodes the epidermal growth factor-con- taining fibrillin-like extracellular matrix protein 1 ...
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Doyne honeycomb retinal dystrophy – functional improvement following subthreshold nanopulse laser treatment: a case report
... honeycomb retinal dystrophy, we report on a single nanolaser treatment of a patient with genotype Doyne honeycomb retinal dystrophy confirmation and evidence of disease progression over 12 ...
5
The molecular genetics of cone-rod retinal dystrophy
... other retinal phenotypes map to chromosome ...asymptomatic retinal disease has been associated with myotonic dystrophy (DM) (Burian HM et al, 1967; Raitta C et al, 1982; Kimizuka Y et al, ...f ...
231
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy
... always p.Glu336Gln. Such combinations resulted in isolated macular disease. Six further cases were homozygous for the variant p.Met454Thr, identified as a founder mutation of South Asian origin. Those patients had ...
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Towards positional cloning of the autosomal dominant doyne honeycomb retinal dystrophy (DHRD) gene localised to chromosome 2p16
... a retinal EST (WI- 31133) that mapped within this genetic interval was identified from the Whitehead database ...a retinal cDNA library and was made available as an IMAGE clone ...
255
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
... ADAMTS18 was previously reported to be expressed in the developing mouse eye [25]. We aimed at determi- ning whether ADAMTS18 is also expressed in the adult eye, and mainly in the retina, i.e., the main target of the ...
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The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
... It is important to diagnose mild - and non- neuronopathic MPS III patients for several reasons. First, such a diagnosis will allow monitoring for potential add- itional complications, such as for HCM in patients with ...
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Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin
... retinal dystrophy. To date, they account for only 0.4% of all unrelated retinal dystrophy cases (three out of 700) that have been solved in our ...cone-rod dystrophy (CRD) and seven ...
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The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity
... Integrative structural modeling in retinal dystrophy cases Indels in RD-associated genes offer useful contrasting examples. In RP2 c.260_268del the deleted residues (Thr87_Cys89) are found in a β-prism ...
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Influence of Mycotoxins in Barley Monodiets on Growth Performance and Rats Liver Histology
... Dystrophy of various extents is occurred in all figures of the group B (feed ration with content 60 % part of mycotoxin contaminated barley), LM 11, LM 12, LM 13 show wide-area dystrophy, in case LM 14 and ...
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Cardioembolic stroke related to limb girdle muscular dystrophy 1B
... muscular dystrophy 1B (LGMD1B) is an autosomal dominant muscular dystrophy caused by a lamin A/C gene (LMNA) mutation, and is characterized by slowly progressive proximal weakness with few con- tractures ...
5
Advances in gene therapy technologies to treat retinitis pigmentosa
... The eye is arguably more amenable to gene therapy than other organs for several reasons: the structure and accessibility of the retina allow local, relatively noninva- sive administration of the agent compared to other ...
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<p>Monitoring and Management of the Patient with Stargardt Disease</p>
... ABCA4 is a large complex gene in chromosome 1 con- sisting in 50 exons and has a causative role in numerous retinal diseases; mutations have been found in STGD1, cone-rod dystrophy, retinitis pigmentosa, ...
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Characterization of Cardiomyopathy in a Mouse Model of Duchenne Muscular Dystrophy (DMD) Using Echocardiography, DCE-CT, and PET-FDG
... muscular dystrophy (DMD) is an X-‐linked recessive neuromuscular disease that is the result of a loss of functional dystrophin, which causes cardiomyocyte fibrosis and death, leading to ...
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In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report
... corneal dystrophy (PDCD) is a rare form of corneal dystrophy, characterized by the presence of nu- merous, tiny, polymorphic opacities in the posterior stroma immediately anterior to Descemet ...
5
Prevalence and correlates of apathy in myotonic dystrophy type 1
... This study aims to determine the prevalence of apathy in DM1 patients and to compare it with that found in patients affected by facio-scapulo-humeral dystrophy (FSHD) and controls. FSHD has been chosen as a com- ...
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Obesity, Blood Pressure, and Retinal Vessels: A Meta-analysis
... that retinal vessel imaging during childhood development has a prognostic value for the adult clinical outcome of pediatric ...of retinal vessel diameters for cardiovascular risk development in children and ...
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Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial
... muscular dystrophy, oculopharyngeal muscu- lar dystrophy (OPMD), proximal myotonic myopathy (PROMM), facioscapulohumeral MD, limb-girdle-MD, myotonia congenita Thomsen], MP, spinal muscular atro- phy (SMA), ...
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