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• W2912585227 abstract "Multi-gene panel testing is used increasingly in ophthalmology practice as an efficient and cost-effective method for diagnosing inherited eye conditions. Panel testing is a powerful diagnostic tool, and it has the potential to reveal syndromic information in patients with seemingly isolated eye findings. This case series highlights our experience with 4 children in 3 families who were referred for evaluation of an isolated retinal degeneration and diagnosed with neuronal ceroid lipofuscinosis on panel testing. These cases are important reminders that several neurodegenerative conditions can present initially with isolated eye findings in childhood and pretest genetic counseling is critical. Multi-gene panel testing is used increasingly in ophthalmology practice as an efficient and cost-effective method for diagnosing inherited eye conditions. Panel testing is a powerful diagnostic tool, and it has the potential to reveal syndromic information in patients with seemingly isolated eye findings. This case series highlights our experience with 4 children in 3 families who were referred for evaluation of an isolated retinal degeneration and diagnosed with neuronal ceroid lipofuscinosis on panel testing. These cases are important reminders that several neurodegenerative conditions can present initially with isolated eye findings in childhood and pretest genetic counseling is critical. Considerations in multi-gene panel testing in pediatric ophthalmologyJournal of American Association for Pediatric Ophthalmology and Strabismus {JAAPOS}Vol. 24Issue 1PreviewTo the Editor: In their recent case series, Turriff and colleagues1 highlight how apparently isolated retinal dystrophy can rarely be a sign of undiagnosed neurodegenerative disease. Specifically, the authors describe 3 cases of CLN3-related neuronal ceroid lipofuscinosis and 1 case of PPT1-related neuronal ceroid lipofuscinosis for which the diagnoses were made after multi-gene panel testing for retinal dystrophy. Full-Text PDF" @default.
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• W2912585227 date "2019-06-01" @default.
• W2912585227 modified "2023-09-29" @default.
• W2912585227 title "Considerations in multi-gene panel testing in pediatric ophthalmology" @default.
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• W2912585227 doi "https://doi.org/10.1016/j.jaapos.2019.01.008" @default.
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