Cargando…

Fundus Albipunctatus Associated with Biallelic LRAT Gene Mutation: A Case Report with Long-Term Follow-Up

This case report presents a 26-year-old female patient diagnosed with fundus albipunctatus (FAP), a rare form of congenital stationary night blindness. The patient’s clinical history and retinal findings spanning 23 years are consistent with FAP. The patient has profound night blindness, photophobia...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tan, Wendy D., Odom, J. Vernon, Leys, Monique
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10672672/ https://www.ncbi.nlm.nih.gov/pubmed/38002575 http://dx.doi.org/10.3390/jcm12226960

Ejemplares similares

Fundus albipunctatus
por: Elhannati, Rajaa, et al.
Publicado: (2016)

Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients
por: Pras, Eran, et al.
Publicado: (2012)

Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus
por: Yang, Guoxing, et al.
Publicado: (2017)

Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families
por: Ajmal, Muhammad, et al.
Publicado: (2012)

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations
por: Talib, Mays, et al.
Publicado: (2019)

RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort
por: Katagiri, Satoshi, et al.
Publicado: (2020)

Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus
por: Qian, Tianwei, et al.
Publicado: (2022)

Fundus albipunctatus photoreceptor microstructure revealed using adaptive optics scanning light ophthalmoscopy
por: Sobol, Ethan K., et al.
Publicado: (2021)

A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy
por: You, Hyelin, et al.
Publicado: (2022)

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)
por: Skorczyk-Werner, Anna, 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)

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

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

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

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

Oncologic surveillance for subjects with biallelic mismatch repair gene mutations-10 year follow-up in a kindred
por: Durno, Carol A, et al.
Publicado: (2011)

Case report: A rare case of urinary myiasis induced by the fourth instar larvae of Telmatoscopus albipunctatus
por: Zhang, Beibei, et al.
Publicado: (2017)

Morphological and initial molecular characterization of Clogmia albipunctatus larvae (Diptera: Psychodidae) causing urinary myiasis in Egypt
por: Farrag, Haiam Mohammed Mahmoud, et al.
Publicado: (2019)

Dental malformations associated with biallelic MMP20 mutations
por: Wang, Shih‐Kai, et al.
Publicado: (2020)

Biallelic mutations in UGDH cause congenital microcephaly
por: Shu, Li, et al.
Publicado: (2023)

Long-Term Dietary Changes in Subjects with Glucose Galactose Malabsorption Secondary to Biallelic Mutations of SLC5A1
por: Chan, Alvin P., et al.
Publicado: (2021)

Biallelic mutations in cancer genomes reveal local mutational determinants
por: Demeulemeester, Jonas, et al.
Publicado: (2022)

Long term follow-up of EGFR mutated NSCLC cases
por: Rennert, Gad, et al.
Publicado: (2020)

Ocular fundus manifestation of two patients following long-term chloroquine therapy: a case report
por: Ma, Xiaoyun, et al.
Publicado: (2010)

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
por: Krenn, Martin, et al.
Publicado: (2019)

Biallelic IARS2 mutations presenting as sideroblastic anemia
por: Barcia, Giulia, et al.
Publicado: (2021)

New macular findings in individuals with biallelic KLHL7 gene mutation
por: Heng, Ling Zhi, et al.
Publicado: (2019)

Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia
por: Colin, Elia, et al.
Publicado: (2021)

SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes
por: Smith, Chris, et al.
Publicado: (2023)

Long-term follow-up of cytogenetically normal CEBPA-mutated AML
por: Pastore, Friederike, et al.
Publicado: (2014)

The BCO2 Genotype and the Expression of BCO1, BCO2, LRAT, and TTPA Genes in the Adipose Tissue and Brain of Rabbits Fed a Diet with Marigold Flower Extract
por: Strychalski, Janusz, et al.
Publicado: (2023)

Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome
por: Jamuar, Saumya S., et al.
Publicado: (2017)

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
por: Eletto, Davide, et al.
Publicado: (2016)

Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease)
por: Mahroo, Omar A., et al.
Publicado: (2019)

Biallelic mutations in ABCB1 display recurrent reversible encephalopathy
por: Seo, Jieun, et al.
Publicado: (2020)

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
por: Efthymiou, Stephanie, et al.
Publicado: (2019)

Biallelic mutations in NRROS cause an early onset lethal microgliopathy
por: Smith, Colin, et al.
Publicado: (2020)

Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations
por: Kuo, Che-Yuan, et al.
Publicado: (2023)

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy
por: Peng, Yanyan, et al.
Publicado: (2017)

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy
por: Peng, Yanyan, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_23d3bpurpe6hpvj2r4lttnbo2b