Lamellar cataract in a child with Alagille syndrome

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Date
2024-12
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All India Institute of Medical Sciences
Abstract
Alagille syndrome is a multisystem disorder inherited in an autosomal dominant manner with a variable phenotypic presentation. Typical features include intrahepatic bile duct paucity, butterfly-shaped vertebrae, typical facies, axenfeld anomaly (posterior embryotoxon) and cardiac abnormalities. Since this syndrome has typical ocular associations, ophthalmologists also have an important role in diagnosing the condition. Ocular features include posterior embryotoxon, corneal pannus, chorioretinal abnormalities and posterior subcapsular cataract. We report a toddler, diagnosed with Alagille syndrome who presented to us with a visually significant lamellar cataract in both eyes. To the best of our knowledge, this is the first case reporting lamellar cataract in a toddler with Alagille syndrome.
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Citation
Khokhar S, Rani D, Namdev V, Rathod A, Kumar S.. Lamellar cataract in a child with Alagille syndrome. National Medical Journal of India. 2024 Dec; 37(6): 327-328