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Ophthalmic manifestations of Cousin syndrome
Manjushree Bhate1, Venkatesh Pochaboina2, Ravi Varma3
1Jasti V Ramanamma Children's Eye Care Center, LV Prasad Eye Institute, Hyderabad, India.
Abstract:
We describe the ophthalmic features in 2 siblings with genetically confirmed Cousin syndrome. Each sibling had a very large-angle exotropia with minimal ocular motility in any position of gaze. The younger had severe ptosis. Magnetic resonance imaging of the brain revealed multiple skull abnormalities but normal cranial nerve pathways and normal extraocular muscles. On exploration, the lateral rectus muscles were extremely tight. Forced duction testing was positive for all rectus muscles, with no rotation of the globe toward adduction and least positive for abduction. A homozygous pathogenic variant in TBX15 was identified.
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