Phenotypic variant of CLN3 mutation

PURPOSE: To report a case of bilateral chorioretinal scarring due to CLN3 heterozygous deletion in an asymptomatic patient. OBSERVATIONS: A 63 year-old patient with a history of well-controlled diabetes presented as a referral for diabetic retinopathy. He was asymptomatic with 20/20 visual acuity in...

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Detalles Bibliográficos
Autores principales: Honasoge, Avinash, Smith, Bradley T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9121241/
https://www.ncbi.nlm.nih.gov/pubmed/35599949
http://dx.doi.org/10.1016/j.ajoc.2022.101587

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9121241/
https://www.ncbi.nlm.nih.gov/pubmed/35599949
http://dx.doi.org/10.1016/j.ajoc.2022.101587

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