ArticleAmerican journal of ophthalmology case reports2022
Phenotypic variant of CLN3 mutation.
Article in American journal of ophthalmology case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus.Molecular genetics and metabolism reports · 2023Article
- Democratization of genetic screening for inherited retinal degenerations: Historical context and new challenges.American journal of ophthalmology case reports · 2023Article
- Invited editorial in regards to phenotypic variant of CLN3 mutation.American journal of ophthalmology case reports · 2023Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 both eyes. Exam revealed bilateral multifocal chorioretinal scarring left worse than right, sparing the fovea. He was unable to provide a family history due to adoption, and his remaining medical history and review of systems were noncontributory. Inflammatory and infectious workup was negative; however, genetic testing revealed heterozygous deletion of CLN3 exons 8 and 9. His disease has been nonprogressive at all follow-up appointments. Conclusions and importance: Mutations of CLN3 can present with retina-specific findings including bull's-eye maculopathy and electroretinogram (ERG) deficits; to our knowledge this patient's presentation is unique among those with CLN3 mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.