DESCRIBE <http://purl.uniprot.org/citations/33507216>

Subject	Predicate	Object
http://purl.uniprot.org/citations/33507216	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/33507216	http://www.w3.org/2000/01/rdf-schema#comment	" Importance Biallelic variants in CLN3 lead to a spectrum of diseases, ranging from severe neurodegeneration with retinal involvement (juvenile neuronal ceroid lipofuscinosis) to retina-restricted conditions. Objective To provide a detailed description of the retinal phenotype of patients with isolated retinal degeneration harboring biallelic CLN3 pathogenic variants and to attempt a phenotype-genotype correlation associated with this gene defect. Design, setting, and participants This retrospective cohort study included patients carrying biallelic CLN3 variants extracted from a cohort of patients with inherited retinal disorders (IRDs) investigated at the National Reference Center for Rare Ocular Diseases of the Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts from December 2007 to August 2020. Data were analyzed from October 2019 to August 2020. Main outcome and measures Functional (best-corrected visual acuity, visual field, color vision, and full-field electroretinogram), morphological (multimodal retinal imaging), and clinical data from patients were collected and analyzed. Gene defect was identified by either next-generation sequencing or whole-exome sequencing and confirmed by Sanger sequencing, quantitative polymerase chain reaction, and cosegregation analysis. Results Of 1533 included patients, 843 (55.0%) were women and 690 (45.0%) were men. A total of 15 cases from 11 unrelated families harboring biallelic CLN3 variants were identified. All patients presented with nonsyndromic IRD. Two distinct patterns of retinal disease could be identified: a mild rod-cone degeneration of middle-age onset (n = 6; legal blindness threshold reached by 70s) and a severe retinal degeneration with early macular atrophic changes (n = 9; legal blindness threshold reached by 40s). Eleven distinct pathogenic variants were detected, of which 4 were novel. All but 1, p.(Arg405Trp), CLN3 point variants and their genotypic associations were clearly distinct between juvenile neuronal ceroid lipofuscinosis and retina-restricted disease. Mild and severe forms of retina-restricted CLN3-linked IRDs also had different genetic background. Conclusions and relevance These findings suggest CLN3 should be included in next-generation sequencing panels when investigating patients with nonsyndromic rod-cone dystrophy. These results document phenotype-genotype correlations associated with specific variants in CLN3. However, caution seems warranted regarding the potential neurological outcome if a pathogenic variant in CLN3 is detected in a case of presumed isolated IRD for the onset of neurological symptoms could be delayed."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.org/dc/terms/identifier	"doi:10.1001/jamaophthalmol.2020.6089"xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/author	"Defoort-Dhellemmes S."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/author	"Meunier I."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/author	"Antonio A."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/author	"Audo I."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/author	"Condroyer C."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/author	"El Shamieh S."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/author	"Mejecase C."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/author	"Mohand-Said S."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/author	"Sahel J.A."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/author	"Zeitz C."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/author	"Andrieu C."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/author	"Smirnov V.M."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/author	"Nassisi M."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/author	"Solis Hernandez C."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/date	"2021"xsd:gYear
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/name	"JAMA Ophthalmol"xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/pages	"278-291"xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/title	"Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort."xsd:string
http://purl.uniprot.org/citations/33507216	http://purl.uniprot.org/core/volume	"139"xsd:string
http://purl.uniprot.org/citations/33507216	http://www.w3.org/2004/02/skos/core#exactMatch	http://purl.uniprot.org/pubmed/33507216
http://purl.uniprot.org/citations/33507216	http://xmlns.com/foaf/0.1/primaryTopicOf	https://pubmed.ncbi.nlm.nih.gov/33507216
http://purl.uniprot.org/uniprot/#_B4DFF3-mappedCitation-33507216	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/33507216