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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2022
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| 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 |