| Category |
Ophthalmology |
| Manuscript Type |
Minireviews |
| Article Title |
Pathophysiology of ocular manifestations in Wilson’s disease and its management
|
| Manuscript Source |
Invited Manuscript |
| All Author List |
Manpreet Kaur, Shweta Walia, Arvind Kumar Morya, Puja Hingorani Bang, Sarita Aggarwal, Parul Chawla Gupta, Rutuja Nagare, Hemlata Udenia, Srishti Khullar and Rannusha Morya |
| ORCID |
|
| Funding Agency and Grant Number |
|
| Corresponding Author |
Arvind Kumar Morya, Additional Professor, Consultant, Principal Investigator, Researcher, Senior Researcher, Department of Ophthalmology, All India Institute of Medical Sciences, Bibi Nagar, Hyderabad 508126, Telangana, India. bulbul.morya@gmail.com |
| Key Words |
Wilson disease; Ocular manifestation; Kayser-Fleischer ring; Sunflower cataract; Copper metabolism |
| Core Tip |
Autosomal recessive ATP7B gene dysfunction in Wilson’s disease causes sequestered copper in hepatocytes to effect oxidative damage and necrosis, subsequently releasing into systemic circulation and reaching the eyes, brain, and kidneys. Free copper binds reversibly with metallothionein protein in the Descemet’s, causing Kayser-Fleischer rings (and anterior capsule, causing rare non-vision-threatening sunflower cataracts)-serving as clinical severity biomarkers for diagnosis and treatment compliance/responsiveness, especially among symptomatic adults. Gonioscopy, anterior segment optical coherence tomography, and confocal imaging strengthen the ophthalmologist’s diagnostic advantage over slit-lamp alone. Children with a family history of consanguinity need early screening due to subtle biochemical abnormalities and nonspecific neurological, behavioral, renal, and hematological symptoms, but they have a good chelation response and yet the possibility of fulminant complications. |
| Publish Date |
2026-04-27 08:16 |
| Citation |
Kaur M, Walia S, Morya AK, Bang PH, Aggarwal S, Gupta PC, Nagare R, Udenia H, Khullar S, Morya R. Pathophysiology of ocular manifestations in Wilson’s disease and its management. World J Clin Cases 2026; 14(14): 119746 |
| URL |
https://www.wjgnet.com/2307-8960/full/v14/i14/119746.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v14.i14.119746 |
