Cargando…

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

PURPOSE: To investigate the natural history in patients with LRAT-associated retinal degenerations (RDs), in the advent of clinical trials testing treatment options. METHODS: A retrospective cohort of 13 patients with LRAT-RDs. RESULTS: Twelve patients from a genetic isolate carried a homozygous c.1...

Descripción completa

Detalles Bibliográficos
Autores principales:	Talib, Mays, van Schooneveld, Mary J, van Duuren, Roos J. G., Van Cauwenbergh, Caroline, ten Brink, Jacoline B., De Baere, Elfride, Florijn, Ralph J., Schalij-Delfos, Nicoline E., Leroy, Bart P., Bergen, Arthur A., Boon, Camiel J. F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2019
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6703192/ https://www.ncbi.nlm.nih.gov/pubmed/31448181 http://dx.doi.org/10.1167/tvst.8.4.24

Ejemplares similares

The Lrat(−/−) Rat: CRISPR/Cas9 Construction and Phenotyping of a New Animal Model for Retinitis Pigmentosa
por: Koster, Céline, et al.
Publicado: (2021)

RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features
por: Nguyen, Xuan-Thanh-An, et al.
Publicado: (2020)

Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies
por: Talib, Mays, et al.
Publicado: (2021)

The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective
por: Nguyen, Xuan-Thanh-An, et al.
Publicado: (2021)

A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa
por: Chen, Yabin, et al.
Publicado: (2018)

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences
por: Kruijt, Charlotte C., et al.
Publicado: (2022)

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)
por: Scholl, Hendrik P. N., et al.
Publicado: (2015)

Low prevalence of LRAT mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa
por: Sweeney, Meredith O., et al.
Publicado: (2007)

Fundus Albipunctatus Associated with Biallelic LRAT Gene Mutation: A Case Report with Long-Term Follow-Up
por: Tan, Wendy D., et al.
Publicado: (2023)

A New Strategy to Identify and Annotate Human RPE-Specific Gene Expression
por: Booij, Judith C., et al.
Publicado: (2010)

Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations
por: Talib, Mays, et al.
Publicado: (2020)

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones
por: Plomp, Astrid S., et al.
Publicado: (2008)

Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4
por: Kruijt, C. C., et al.
Publicado: (2021)

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population
por: Gao, Feng-Juan, et al.
Publicado: (2021)

Nationwide inventory on retinopathy of prematurity screening in the Netherlands
por: Trzcionkowska, Kasia, et al.
Publicado: (2023)

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy
por: Kabir, Firoz, et al.
Publicado: (2013)

Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy
por: Sinim Kahraman, Neslihan, et al.
Publicado: (2022)

Cost reduction in screening for retinopathy of prematurity in the Netherlands by comparing different screening strategies
por: Trzcionkowska, Kasia, et al.
Publicado: (2022)

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy
por: Désir, Julie, et al.
Publicado: (2012)

Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients
por: Xu, Fei, et al.
Publicado: (2012)

The clinical features of retinal disease due to a dominant mutation in RPE65
por: Hull, Sarah, et al.
Publicado: (2016)

Adverse reactions following routine anticholinergic eye drops in a paediatric population: an observational cohort study
por: van Minderhout, Helena M, et al.
Publicado: (2015)

Eye colour and skin pigmentation as significant factors for refractive outcome and residual accommodation in hypermetropic children: a randomized clinical trial using cyclopentolate 1% and tropicamide 1%
por: van Minderhout, Helena M., et al.
Publicado: (2021)

LRAT-specific domain facilitates Vitamin A metabolism by domain swapping in HRASLS
por: Golczak, Marcin, et al.
Publicado: (2014)

A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings
por: Saelaert, Marlies, et al.
Publicado: (2021)

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
por: Van Cauwenbergh, Caroline, et al.
Publicado: (2017)

Outcome of Full-Thickness Macular Hole Surgery in Choroideremia
por: Talib, Mays, et al.
Publicado: (2017)

Mutational Screening of LCA Genes Emphasizing RPE65 in South Indian Cohort of Patients
por: Verma, Anshuman, et al.
Publicado: (2013)

The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation
por: Wu, Wenjing, et al.
Publicado: (2022)

Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65
por: Jauregui, Ruben, et al.
Publicado: (2020)

LRAT coordinates the negative-feedback regulation of intestinal retinoid biosynthesis from β-carotene
por: Ramkumar, Srinivasagan, et al.
Publicado: (2021)

Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation
por: Jánossy, Ágnes, et al.
Publicado: (2023)

Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1
por: Coppieters, Frauke, et al.
Publicado: (2015)

Canine and Human Visual Cortex Intact and Responsive Despite Early Retinal Blindness from RPE65 Mutation
por: Aguirre, Geoffrey K, et al.
Publicado: (2007)

Functional characterization of a novel non-coding mutation “Ghent +49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome
por: Van de Sompele, Stijn, et al.
Publicado: (2017)

Considerations for future studies on the effect of late phase oxygen strategies on retinopathy of prematurity
por: Nusman, Charlotte M., et al.
Publicado: (2022)

Cost-effectiveness of voretigene neparvovec in the treatment of patients with inherited retinal disease with RPE65 mutation in Switzerland
por: Bhadhuri, Arjun, et al.
Publicado: (2022)

An in silico toolbox for the prediction of the potential pathogenic effects of missense mutations in the dimeric region of hRPE65
por: Poli, Giulio, et al.
Publicado: (2023)

Plusoptix photoscreener use for paediatric vision screening in Flanders and Iran
por: Bostamzad, Parinaz, et al.
Publicado: (2019)

A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro
por: Mo, Guoyan, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_bkrvli6ugca2g1l6rqd6q8608i