Results 41 to 50 of about 30,772 (202)
Bilateral Intravitreal Dexamethasone Implant for Retinitis Pigmentosa-Related Macular Edema
Case Reports in Ophthalmology, 2013 Purpose: To report the efficacy of intravitreal dexamethasone implant in a patient with retinitis pigmentosa and bilateral cystoid macular edema unresponsive to topical carbonic anhydrase inhibitors.
Ali Osman Saatci +3 more
doaj +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Status and future of recombinant adeno‐associated virus vector manufacturing
Biotechnology Progress, EarlyView.Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley +1 more source
Zebrafish inversin mutants develop scoliosis in the absence of laterality defects
Developmental Dynamics, EarlyView.Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick +3 more
wiley +1 more source
Journal of Clinical Laboratory Analysis, EarlyView.Whole exome sequencing in a consanguineous Iranian family with autosomal recessive non‐syndromic hearing loss revealed a novel homozygous frameshift mutation, c.3713dupA (p.Asp1238Glufs*10), in the LOXHD1 gene. This mutation, located in exon 24, results in a premature stop codon and a truncated protein. Sanger sequencing confirmed co‐segregation of the
Solmaz Hassani Fard Katiraei +4 more
wiley +1 more source
Macular Hole of the Left Eye in a 41-year-old Patient with Retinitis pigmentosa. A Case Report
OkulistykaRetinitis pigmentosa is characterized by degeneration of the photoreceptors or retinal pigment epithelium and causes progressive vision loss. The disease can lead to night blindness, reduced field of vision and finally to complete loss of vision.
Bożena Kmak +3 more
doaj +1 more source
Anatomical and functional correlates of cystic macular edema in retinitis pigmentosa.
PLoS ONE, 2022 Cystoid macular edema (CME) is a major cause of central visual deterioration in retinitis pigmentosa. The exact reason for CME and its prognostic significance in this patient population is unknown.
Adam Ruff +2 more
doaj +1 more source
Modeling retinitis pigmentosa through patient-derived retinal organoids
STAR Protocols, 2021 Summary: Human-induced pluripotent stem cells (hiPSCs) can be differentiated into well-structured retinal organoids. In this protocol, we successfully established 3D retinae from patient-derived hiPSCs and built the retinitis pigmentosa model in vitro ...
Yan-Ping Li, Wen-Li Deng, Zi-Bing Jin
doaj +1 more source
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
Amino acids in retinitis pigmentosa
Indian Journal of Ophthalmology, 1988 Retinitis pigmentosa may be associated with amino acid′ disorders; whether the association is incidental or consequential is not known. The present investigation on amino acids in retinitis pigmentosa indicates that the level of plasma amino acids
Singh M
doaj