*  Endothelial Cdkn1a (p21) Overexpression and Accelerated Senescence in a Mouse Model of Fuchs Endothelial Corneal Dystrophy |...
... difference was noted in nine genes. (B) Validation of gene array data was performed by real-time PCR analysis of selected genes ... Zhang C Bell WR Sundin OH Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases ... Yu AL Fuchshofer R Kook D Kampik A Bloemendal H Welge-Lussen U. Subtoxic oxidative stress induces senescence in retinal pigment ... difference was noted in nine genes. (B) Validation of gene array data was performed by real-time PCR analysis of selected genes ...
  http://iovs.arvojournals.org/article.aspx?articleid=2128214
*  Bardet-Biedl syndrome - Wikipedia
... that photoreceptor cells are nourished by the IFT of retinal cilia now offers a potential explanation for the retinal dystrophy ... The gene products encoded by these BBS genes, called BBS proteins, are located in the basal body and cilia of the cell. Using ... The syndrome is named after Georges Bardet and Arthur Biedl.The first known case was reported by Laurence and Moon in 1866 at ... Genes involved include: BBsome: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, TTC8/BBS8, BBS10, TRIM32/BBS11 BBS12, CCDC28B, CEP290 ...
  https://en.wikipedia.org/wiki/Bardet%E2%80%93Biedl_syndrome
*  Sara J. Bowne HomePage
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to ... North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene. Mol. Vis. 22:1239-1247, 2016 ... Autosomal dominant retinal dystrophies caused by a founder splice site mutation, c.828+3A>T, in PRPH2 and protein haplotypes in ... Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2 on chromosome ...
  https://sph.uth.edu/RETNET/sbowne.htm
*  NBAS Gene - GeneCards | NBAS Protein | NBAS Antibody
Complete information for NBAS gene (Protein Coding), Neuroblastoma Amplified Sequence, including: function, proteins, disorders ... and in some cases retinal dystrophy and optic atrophy. {ECO:0000269 PubMed:26286438}. ... Summaries for NBAS Gene Entrez Gene Summary for NBAS Gene. * This gene encodes a protein with two leucine zipper domains, a ... Domains & Families for NBAS Gene Gene Families for NBAS Gene. Human Protein Atlas (HPA):. *Disease related genes ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBAS
*  FDA Panel Endorses Gene Therapy For A Form Of Childhood Blindness | KSMU Radio
Gene therapy, which has had a roller-coaster history of high hopes and devastating disappointments, took an important step ... The gene therapy endorsed by the committee Thursday was developed for RPE65-mutation associated retinal dystrophy, which is ... That was the case of Allison Corona, who's now 25 and lives in Glen Head, N.Y. She underwent the treatment five years ago as ... STEIN: Yeah, it's called retinal dystrophy. And it's a genetic disorder that causes progressive damage to the retina in the eye ...
  http://ksmu.org/post/fda-panel-endorses-gene-therapy-form-childhood-blindness
*  Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA) | BMC Neurology | Full Text
Nuclear receptor TLX prevents retinal dystrophy and recruits the corepressor atrophin1. Genes Dev. 2006;20:1308-20.PubMed ... Case presentation. A 47 year-old African-American man presented to an ophthalmologist for progressive worsening in his vision. ... Case presentation. A 47 year-old man presented complaining of progressive visual loss associated with optic atrophy on ... In this case, we described an African-American man who presented with optic atrophy, ataxia and leukoencephalopathy. ...
  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-015-0520-0
*  RePub, Erasmus University Repository: Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?
... causal gene, and refractive error in IRDs may provide insight herein. Design Case-control study. Methods STUDY POPULATION: ... As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of ... Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?. Publication. Publication. American ... rod dominated dystrophies (OR high myopia 10.1, P ,.0001; OR high hyperopia 9.7, P =.001; SE −2.27 D [SD 4.65]), and retinal ...
  https://repub.eur.nl/pub/101658
*  The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies-the clinical phenotype of...
Molecular diagnosis confirms the clinical diagnosis and provides the basis for possible future gene therapy. A strict ... in some cases, the utilisation of newer diagnostic modalities such as optical coherence tomography. ... definition of early-onset childhood retinal dystrophies (EOCRDs) does not exist, but inherited retinal dystrophies that are ... The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies-the clinical phenotype of ...
  http://bjo.bmj.com/content/early/2010/06/08/bjo.2009.165654
*  Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation
In some cases, the data were obtained from medical records. Results: The majority of patients showed subnormal visual acuity ... in the PITPNM3 gene. Methods: The study included 35 individuals from two different families of Swedish origin, all heterozygous ... Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation. Reinis, Ainars ... cone-rod dystrophy, CORD5, electroretinography, mutation, optical coherence tomography, PITPNM3 National Category Medical and ...
  http://umu.diva-portal.org/smash/record.jsf?pid=diva2:625804
*  Gene Editing in Adult Hematopoietic Stem Cells | IntechOpen
Gene Editing in Adult Hematopoietic Stem Cells , IntechOpen, Published on: 2016-05-18. Authors: Sergio López-Manzaneda, Sara ... and retinal dystrophies to cancer and other malignancies (36). In the case of blood-related diseases, HSCs have long been the ... In case of performing a gene addition/gene correction strategy, we should also consider the delivery of the DNA molecule ... Gene editing describes the new technology able to accurately modify genes, either by knocking out these genes or by inserting ...
  https://www.intechopen.com/books/modern-tools-for-genetic-engineering/gene-editing-in-adult-hematopoietic-stem-cells/
*  The Spectrum of Subclinical Best Vitelliform Macular Dystrophy in Subjects with Mutations in BEST1 Gene | IOVS | ARVO Journals
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res. 2008;27:213-235. [ ... BEST1 (chromosome 11q12-q13) 2 is the only gene virtually involved in all Best VMD cases. It encodes a 68 kDa protein called ... Retinal degenerations and dystrophies. In: Saxena S Meredith TA eds. Optical Coherence Tomography in Retinal Diseases. New ... Renner AB Tillack H Kraus H . Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmology ...
  http://iovs.arvojournals.org/article.aspx?articleid=2188294
*  The Utility of Parallel Genotyping With DNA Arrays in the Molecular Diagnosis of Early-Onset Retinal Dystrophy | IOVS | ARVO...
9 identified genes being responsible for approximately 50% of cases. This complexity hinders efficient molecular diagnosis. One ... Purpose: : Early onset retinal dystrophy (EORD), in which patients present with reduced retinal function before the age of 5 ... The Utility of Parallel Genotyping With DNA Arrays in the Molecular Diagnosis of Early-Onset Retinal Dystrophy ... The Utility of Parallel Genotyping With DNA Arrays in the Molecular Diagnosis of Early-Onset Retinal Dystrophy ...
  http://iovs.arvojournals.org/article.aspx?articleid=2391552
*  HYLS1 gene - Genetics Home Reference - NIH
Additional variable features include retinal dystrophy and renal disease.. Hydrolethalus syndrome 1 (HLS1): A lethal syndrome ... In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by ... From NCBI Gene:. This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with ... HYLS1 gene. HYLS1, centriolar and ciliogenesis associated. Enable Javascript to view the expand/collapse boxes.. Open All Close ...
  https://ghr.nlm.nih.gov/gene/HYLS1
*  BBSome - Wikipedia
... presenting in most cases by retinal dystrophy, obesity, renal anomalies, post-axial polydactyly, and developmental delay. The ... Mutation in each of this eight BBSome genes (as well as other 14 BBS genes identified to date ) causes a severe multiorganic ...
  https://en.wikipedia.org/wiki/BBSome
*  Characterization of the Human Gene Encoding MT-protocadherin, a Candidate Gene for Autosomal Recessive Retinitis Pigmentosa |...
... and the retinal dystrophy phenotype of Mt-Pcdh knockout mice make this gene an interesting candidate for recessive RP and/or ... It is possible that A212T and P532A are disease causing implying that, in each case, the second mutation escaped detection. ... A. Gal, S. Ehmer, A. Schmidt, H. Bolz; Characterization of the Human Gene Encoding MT-protocadherin, a Candidate Gene for ... Characterization of the Human Gene Encoding MT-protocadherin, a Candidate Gene for Autosomal Recessive Retinitis Pigmentosa ...
  https://iovs.arvojournals.org/article.aspx?articleid=2414133
*  Human Genetics Research - Uni Oldenburg
... retinal dystrophies and hearing deficits. Retinal dystrophies and hearing deficits are among the most heterogeneous diseases ... Only about 60% of the cases can be explained by the known disease-associated genes, implicating that additional genetic causes ... retinal diseases include more than 20 different clinical diagnoses and are caused by mutations in over 200 genes. ... To overcome these obstacles, Next Generation Sequencing is the method of choice and enables the analysis of all genes in ...
  https://www.uni-oldenburg.de/en/humanmedicine/human-genetics/research-and-clinical-collaborations/human-genetics-research/
*  PRPH2 gene - Genetics Home Reference
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res. 2008 Mar;27(2):213-35. ... Mutations in the PRPH2 gene are responsible for some cases of adult-onset vitelliform macular dystrophy. Several mutations have ... Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat ... PRPH2 mutations also cause a group of retinal disorders called pattern dystrophies of the retinal pigment epithelium. These ...
  https://ghr.nlm.nih.gov/gene/PRPH2
*  Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome
Open Access journal that publishes case reports and case series related to pediatric subspecialities, such as adolescent ... Case Reports in Pediatrics is a peer-reviewed, ... retinal dystrophy, renal disease, hepatic fibrosis, ... 22 genes, which account for only half of Joubert syndrome cases, have been identified, all encoding for proteins of the primary ... Case Report. Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. Rama Krishna Sanjeev,1 ...
  https://www.hindawi.com/journals/cripe/2015/385910/
*  Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa...
More than half of all cases of retinitis pigmentosa are autosomal recessive (arRP), but the gene(s) causing arRP in most ... The EYS gene is a recently identified disease-causing gene for retinitis pigmentosa, and encodes the orthologue of Drosophila ... Linkage and haplotype analyses were used to define the chromosomal location of the pathogenic gene in the Chinese arRP family. ... Retinitis pigmentosa is the most important hereditary retinal degenerative disease, which has a high degree of clinical and ...
  https://0-bmcmedgenet-biomedcentral-com.brum.beds.ac.uk/articles/10.1186/1471-2350-11-121
*  Meet Steve Rose - Eye on the Cure
There are gene therapy studies ongoing for other retinal diseases linked to GUCY2D. There has also been some work on RDS gene ... It appears that several cases of CACD are linked to defects in a gene called RDS (or PRPH2). Some are linked to mutations in ... From the research literature, it appears that CACD - also known as central areolar choroidal dystrophy - can look in some ways ... The other mutations may be for other genes (for other proteins). It may be useful for you to speak with a retinal disease ...
  http://www.blindness.org/blog/index.php/steve-bio/?replytocom=286742
*  Taking the long view | Iowa Now
... answers about the retinal condition that has left him legally blind. ... a retinal condition caused by many different gene mutations, but he did not know which gene was affected in his case. ... In 2003, he was told he had cone rod dystrophy, ... Several hundred genes can cause retinal degeneration, which ... Michael Stone notes that successful gene therapies developed for retinal diseases-such trials currently are under way-might ...
  https://now.uiowa.edu/2014/02/taking-long-view
*  Hypophosphatemic bone disease | definition of hypophosphatemic bone disease by Medical dictionary
Syn. Best's macular dystrophy; juvenile vitelliform macular dystrophy; vitelliform macular dystrophy. Mutation in the VMD2 gene ... although in some cases the retinal lesion may be eccentric, with very little effect on vision. The electrooculogram is abnormal ... Syn. Stargardt's macular dystrophy. See macular dysrophy; fundus flavi-maculatus.. Steinert's disease See myotonic dystrophy.. ... The disease can be caused by mutation in the arrestin gene (SAG) or the rhodopsin kinase gene (GRK1).ophthalmic Graves' d. See ...
  https://medical-dictionary.thefreedictionary.com/hypophosphatemic+bone+disease
*  Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients |...
Gene discovery and prevalence in inherited retinal dystrophies. C R Biol. 2014; 337: 160-166. ... Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa. Mol Vis. 2014; 20: 843-851 ... GUCA1B gene) in patients with autosomal dominant retinal dystrophies. Graefes Arch Clin Exp Ophthalmol. 2005; 243: 235-242. ... were selected for application of a NGS-based approach with a custom panel for 73 genes related to retinal dystrophies. ...
  http://iovs.arvojournals.org/article.aspx?articleid=2245717
*  Evolutionarily Conserved ELOVL4 Gene Expression in the Vertebrate Retina | IOVS | ARVO Journals
... to have deleterious effects and may account for the pathogenesis observed in cases of STGD3/adMD and other retinal dystrophies ... 2000) Retinal pigment epithelial-expressed genes as putative candidates for inherited retinal dystrophies mapping to chromosome ... This finding resembles the expression profile of other retinal genes 39 40 and indicates that retina-specific gene function may ... Retinal expression of the ELOVL4 gene has already been demonstrated in human tissue samples. 19 23 To investigate the ...
  http://iovs.arvojournals.org/article.aspx?articleid=2181735
*  "Alstrom Syndrome (OMIM 203800): A Case Report and Literature Review" by Tisha Joy, Henian Cao et al.
The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. ... we review the clinical and genetic features of AS in the context of our case. Conclusion: Two novel mutations in the ALMS1 gene ... Case Presentation: We describe the case of a 27-year old female from an English (Caucasian) kindred. She had been initially ... Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been ...
  https://ir.lib.uwo.ca/vascularpub/7/