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Juvenile cataract in association with tuberous sclerosis complex.
A L Geffrey1, K R Geenen1, E Abati2
1Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Harvard Medical School , Boston, Massachusetts, USA.
Ophthalmic Genetics
|April 29, 2020
Summary
Juvenile cataract is a potentially under-recognized ocular manifestation in Tuberous Sclerosis Complex (TSC). This study quantifies its frequency and clinical associations in TSC patients, finding TSC2 mutations in all cases.
Area of Science:
- Ophthalmology
- Genetics
- Dermatology
Background:
- Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder causing benign hamartomas in multiple organs.
- Retinal findings in TSC typically include astrocytic hamartoma and achromic patch.
- Cataract is a rare but reported ocular manifestation in TSC patients.
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