Juvenile cataract in association with tuberous sclerosis complex
Sign Up to like & getrecommendations! Published in 2020 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2020.1755989
Abstract: ABSTRACT Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas occurring in multiple organ systems including the brain, kidneys, heart, lungs, liver, skin, and the eyes. Typical retinal findings… read more here.
Keywords: sclerosis complex; juvenile cataract; tuberous sclerosis; cataract ... See more keywords
Early diagnosis for cerebrotendinous xanthomatosis with juvenile cataract and family history.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2197492
Abstract: PURPOSE Cerebrotendinous xanthomatosis is characterized by excessive accumulation of cholestanol and cholesterol in multiple tissues including the brain, tendons, and the crystalline lens. Since juvenile cataract is the most common and early pathognomonic feature of… read more here.
Keywords: history; cataract; juvenile cataract; cerebrotendinous xanthomatosis ... See more keywords
FYCO1 Frameshift Deletion in Wirehaired Pointing Griffon Dogs with Juvenile Cataract
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DOI: 10.3390/genes13020334
Abstract: Different breed-specific inherited cataracts have been described in dogs. In this study, we investigated an inbred family of Wirehaired Pointing Griffon dogs in which three offspring were affected by juvenile cataract. The pedigree suggested monogenic… read more here.
Keywords: fyco1; pointing griffon; juvenile cataract; griffon dogs ... See more keywords