Lamellar cataract in a child with Alagille syndrome

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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Publication Details

Journal
˜The œNational Medical Journal of India
Published
2025-04-16
DOI
https://doi.org/10.25259/nmji_761_2022
Primary Topic
Pediatric Hepatobiliary Diseases and Treatments
Type
article
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article

Lamellar cataract in a child with Alagille syndrome

Aishwarya Rathod, Saumya Kumar, Vaibhav Namdev, Deeksha Rani et al.
˜The œNational Medical Journal of India
Pediatric Hepatobiliary Diseases and Treatments
article

Lamellar cataract in a child with Alagille syndrome

Aishwarya Rathod, Saumya Kumar, Vaibhav Namdev, Deeksha Rani, Sudarshan Khokhar
article en

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.

˜The œNational Medical Journal of IndiaVol. 37(6)
All India Institute of Medical Sciences (IN)
Openalex Percentile: Top 86%
Pediatric Hepatobiliary Diseases and Treatments
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