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Article

Multimodal Imaging in Mucolipidosis Type IV: Siblings With Novel Genetic Variant.

Cornea - 1 Jan 2025

Yangzes Sonam, Verma Anjali, Kaur Anupriya, Spalkit Stanzin, Kakkar Nandita, Gupta Amit

Abstract excerpt

PURPOSE: Utilization of multimodal imaging techniques to diagnose cases of mucolipidosis type IV (ML-IV) and report a new genetic variant. METHODS: This study is a case report. RESULTS: Case 1 involves a 4-year-old boy with corneal haziness and global developmental delay who showed an increased reflectivity of the corneal epithelium on anterior segment optical coherence tomography (AS-OCT). In addition,...

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PMID: 38913974
DOI: 10.1097/ICO.0000000000003612

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