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Lamellar cataract in a child with Alagille syndrome

Year: 2025

Type: article

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.

Source: The National Medical Journal of India

DOI: 10.25259/nmji_761_2022

Authors: SUDARSHAN KHOKHAR, DEEKSHA RANI, VAIBHAV NAMDEV, AISHWARYA RATHOD, SAUMYA KUMAR

Institution: All India Institute of Medical Sciences

Language: English

Topic: Pediatric Hepatobiliary Diseases and Treatments

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4409524270

FWCI:

Cites: 13

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Related to: 10