A5064202280- Retinal Development and Disorders
- Retinal Diseases and Treatments
- RNA regulation and disease
- Genomics and Rare Diseases
- Ocular Diseases and Behçet’s Syndrome
- Retinoids in leukemia and cellular processes
- Cytomegalovirus and herpesvirus research
- Genetic and Kidney Cyst Diseases
- CRISPR and Genetic Engineering
- Glaucoma and retinal disorders
- Mitochondrial Function and Pathology
- Systemic Lupus Erythematosus Research
- Ocular Disorders and Treatments
- melanin and skin pigmentation
- Chromosomal and Genetic Variations
- Metabolism and Genetic Disorders
- Connexins and lens biology
- Advanced biosensing and bioanalysis techniques
- Intraocular Surgery and Lenses
- Retinal and Optic Conditions
- DNA Repair Mechanisms
- Cardiomyopathy and Myosin Studies
- Olfactory and Sensory Function Studies
- Health, Environment, Cognitive Aging
- Porphyrin Metabolism and Disorders
Retina Foundation of the Southwest
2014-2025
The University of Texas Southwestern Medical Center
2021
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together U5 and ∼30 proteins, is part of U4/U6.U5 tri-snRNP complex, located at core major spliceosome. Recently, recurrent de novo variants in RNA, transcribed from RNU4-2 gene, least two other RNU genes were discovered to cause neurodevelopmental disorder. We detected inherited heterozygous (n.18_19insA n.56T>C) four out five RNU6 paralogues (n.55_56insG n.56_57insG) 135 individuals 62 families non-syndromic retinitis...
High throughput sequencing technologies have revolutionized the identification of mutations responsible for a diverse set Mendelian disorders, including inherited retinal disorders (IRDs). However, causal remain elusive significant proportion patients. This may be partially due to pathogenic located in non-coding regions, which are largely missed by capture targeting coding regions. The advent whole-genome (WGS) allows us systematically detect variations. interpretation these variations...
Purpose: The Foundation Fighting Blindness (FFB) Consortium is a collaboration of 41 international clinical centers that manage patients affected with inherited retinal diseases (IRDs). annual gene poll was initiated in 2020 to capture the genetic cause disease IRD and associated practices sites. Data from 2022 are reported here. Methods: In 2022, academic, private practice, government ophthalmology clinics members were polled identify per-case causality list 387 syndromic nonsyndromic...
To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant (adRP).A series strategies, including candidate gene screening, linkage exclusion, genome-wide mapping, and whole-exome next-generation sequencing, was used to mutation novel disease on chromosome 10q22.1. Probands from an additional 404 retinal degeneration families were subsequently screened for mutations this gene.Exome sequencing UTAD003 led identification...
Although over 150 unique mutations affecting the coding sequence of CHM have been identified in patients with X-linked chorioretinal disease choroideremia (CHM), no regulatory reported, and indeed promoter has not defined. Here, we describe two independent families affected by bearing a mutation outside gene's region at position c.-98: C>A C>T, which segregated disease. The male proband family 1 was found to lack mRNA its gene product Rab escort protein 1, whereas whole-genome sequencing an...
Purpose: To identify the causes of autosomal dominant retinitis pigmentosa (adRP) in a cohort families without mutations known adRP genes and consequently to characterize novel dominant-acting missense mutation SAG. Methods: Patients underwent ophthalmologic testing were screened for using targeted-capture whole-exome next-generation sequencing. Confirmation additional screening done by Sanger Haplotypes segregating with determined short tandem repeat single nucleotide variant polymorphisms....
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) is an X-linked gene critical for nucleotide metabolism. Pathogenic PRPS1 variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy. Multicenter phenotypic studies are limited. A multicenter retrospective clinical case series of 15 patients from 12...
Mutations in the inosine monophosphate dehydrogenase 1 (IMPDH1) gene are a common cause of inherited retinal degeneration (IRD). Due to species- and tissue-dependent expression IMPDH1, there no appropriate models human IMPDH1 disease. Therefore, limited understanding remains disease rates progression for IMPDH1-related IRD.We evaluated semiautomated kinetic chromatic static perimetry, spectral-domain optical coherence tomography (SD-OCT), ultra-wide field fundus images with autofluorescence...
Background Choroideremia is an X-linked retinal disease characterized by progressive atrophy of the choroid and pigment epithelium caused mutations in CHM gene. SVA (SINE-R/VNTR/Alu) elements are a type non-autonomous retrotransposon that occasionally self-replicate, reinsert randomly into gene, cause disease. Intragenic insertions have been reported as mechanism underlying number diseases including syndromic form dystrophy, but never found CHM.Materials Methods Here we identified novel...
In a cohort of eight families (11 patients) with autosomal recessive retinitis pigmentosa (arRP), we clinically characterized disease associated mutations in CNGB1.Visual function was determined by measuring the patients' visual acuity, dark- and light-adapted perimetry, full-field electroretinography. Retinal structure evaluated spectral-domain optical coherence tomography, fundus imaging, autofluorescence imaging.Age onset ranged from 4 to 49 years (mean [SD] 26 [17], median 27 years). The...
A 74-year-old woman with a history of rheumatoid arthritis using hydroxychloroquine presented gradually progressive decreased vision in both eyes and was found to have bilateral maculopathy. Initial genetic testing negative, after discussing the low likelihood her severe findings being secondary relatively exposure, possibility an autoimmune retinopathy entertained. Updated data on reclassified one mutations HGSNAT as pathogenic. This case highlights value need keep high index suspicion even...