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

• Published in: Cornea
• Main Authors: Yangzes, Sonam, Verma, Anjali, Kaur, Anupriya, Spalkit, Stanzin, Kakkar, Nandita, Gupta, Amit
• Format: Journal Article
• Language: English
• Published: United States 24.06.2024
• ISSN: 1536-4798
• DOI: 10.1097/ICO.0000000000003612

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.