CRB1-associated retinal dystrophies: a prospective natural history study in anticipation of future clinical trials.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2021.07.021
Abstract: PURPOSE To describe the natural disease course of CRB1-associated retinal dystrophies, and to identify clinical endpoints for future clinical trials. DESIGN Single center, prospective case series. METHODS An investigator-initiated nationwide collaborative study that included 22… read more here.
Keywords: retinal dystrophies; associated retinal; future clinical; crb1 associated ... See more keywords
CRB1-associated retinal dystrophy presenting as self-resolving opsoclonus and posterior uveitis
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2022.101444
Abstract: Purpose To describe the unusual case of inflammatory CRB1-associated retinal dystrophy that initially presented with self-resolving opsoclonus. Observations We report the case of a now 2-year-old female who developed opsoclonus without myoclonus at the age… read more here.
Keywords: crb1 associated; self resolving; associated retinal; retinal dystrophy ... See more keywords
The phenotypic variability of HK1-associated retinal dystrophy
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-07629-3
Abstract: Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating pleiotropic phenotype traits influenced by both… read more here.
Keywords: phenotypic variability; dystrophy; variant; hk1 associated ... See more keywords
Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies
Sign Up to like & getrecommendations! Published in 2021 at "Acta Ophthalmologica"
DOI: 10.1111/aos.14597
Abstract: To investigate the retinal structure and function in patients with CRB1‐associated retinal dystrophies (RD) and to explore potential clinical endpoints. read more here.
Keywords: retinal dystrophies; associated retinal; criteria endpoints; inclusion criteria ... See more keywords
POS0775 APLS-ASSOCIATED RETINAL VASCULOPATHY AS A PRESENTATION OF THROMBOTIC MICROANGIOPATHY
Sign Up to like & getrecommendations! Published in 2021 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2021-eular.3441
Abstract: Persistent antiphospholipid antibodies (aPL) positivity was a recognized risk factor for thrombotic events, obstetric morbidity and a variety of manifestations beyond thrombosis. The presence of some non-criteria manifestations including thrombocytopenia, hemolytic anemia, and APS nephropathy… read more here.
Keywords: associated retinal; thrombotic microangiopathy; retinal vasculopathy; aps patients ... See more keywords
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration
Sign Up to like & getrecommendations! Published in 2019 at "British Journal of Ophthalmology"
DOI: 10.1136/bjophthalmol-2018-313580
Abstract: Background Defects in retinol dehydrogenase 12 (RDH12) account for 3.4%–10.5 % of Leber congenital amaurosis and early-onset severe retinal dystrophy (EOSRD) and are a potential target for gene therapy. Clinical trials in inherited retinal diseases… read more here.
Keywords: associated retinal; natural history; retinal degeneration; rdh12 associated ... See more keywords
Multiple Free Internal Limiting Membrane Flap Insertion in the Treatment of Macular Hole-Associated Retinal Detachment in High Myopia
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmologica"
DOI: 10.1159/000487337
Abstract: Purpose: The aim of this paper was to evaluate the efficacy of multiple free internal limiting membrane (ILM) flap insertion in the management of macular hole-associated retinal detachment in high myopia. Procedures: Eyes receiving operation… read more here.
Keywords: multiple free; flap insertion; group; hole associated ... See more keywords
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13050925
Abstract: The retinal dystrophy phenotype associated with CDHR1 retinopathy is clinically heterogenous. In this study, we describe the clinical and molecular findings of a retinal dystrophy cohort (10 patients) attributed to autosomal recessive CDHR1 and report… read more here.
Keywords: cdhr1 associated; dystrophy; phenotypes cdhr1; clinical phenotypes ... See more keywords