The High Association of Ophthalmic Manifestations in Individuals With Mucolipidosis Type IV.

PURPOSE: To present a case report of mucolipidosis type IV (ML4) and review the literature for all of the ophthalmic abnormalities associated with this disease. METHODS: A systematic review of the literature using PubMed/Medline was conducted, and with the addition of the current case report, the eye and ocular adnexa findings of 93 patients with ML4 are summarized. RESULTS: The most common ophthalmic findings reported among the 93 patients included corneal clouding (90.3%), strabismus (58.1%), optic nerve pallor (52.2%), retinal dystrophy/pigmentary changes (50.5%), and retinal vascular attenuation (38.9%). Other less commonly reported findings included nystagmus, photophobia, ocular pain, excessive lacrimation, ptosis, and cataracts. CONCLUSIONS: The ophthalmic findings discussed in the current case report and literature review serve as indicators for ML4. Early diagnosis of ML4 is important in forming a multidisciplinary management plan, genetic counseling strategy, and maximizing the visual development of affected individuals. [J Pediatr Ophthalmol Strabimus. 2022;59(5):332-337.].