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

Utilization of multimodal imaging techniques to diagnose cases of mucolipidosis type IV (ML-IV) and report a new genetic variant. This study is a case report. 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, neurologic evaluation was suggestive of ML-IV. Further genetics evaluation confirmed ML-IV. Histology of the button revealed a thickened epithelial basement membrane. Case 2, the younger sibling, showed a milder corneal haze with similar changes on AS-OCT prompting us to further evaluate for ML-IV by genetics (positive MCOLN1 gene mutation). Both instances highlighted varied ML-IV presentations, but a persistent feature was hyperreflective epithelium. Our study emphasizes AS-OCT's role in screening ML-IV and advocates the role of genetic counseling of affected parents. We present 2 South-Asian siblings with ML-IV with a new genetic variant, emphasizing the utility of detailed ophthalmic and neurologic assessments using multimodal imaging. Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.

Citation

Sonam Yangzes, Anjali Verma, Anupriya Kaur, Stanzin Spalkit, Nandita Kakkar, Amit Gupta. Multimodal Imaging in Mucolipidosis Type IV: Siblings With Novel Genetic Variant. Cornea. 2024 Jun 24

PMID: 38913974

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