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

Journal of Pediatric Ophthalmology and Strabismus Pub Date : 2022-09-01 Epub Date: 2022-02-22 DOI:10.3928/01913913-20211206-03

David Gibson, Vikram Brar, Rachel Li, Arun Kalra, Allison Goodwin, Natario Couser

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Abstract

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.].

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IV型粘脂病患者眼部表现的高度相关性

目的:报告1例黏液脂质沉积症IV型(ML4)，并回顾与该疾病相关的所有眼部异常的文献。方法:通过PubMed/Medline系统回顾文献，并结合当前病例报告，总结93例ML4患者的眼部及眼附件表现。结果:93例患者中最常见的眼科表现为角膜混浊(90.3%)、斜视(58.1%)、视神经苍白(52.2%)、视网膜营养不良/色素改变(50.5%)、视网膜血管衰减(38.9%)。其他不常报道的发现包括眼球震颤、畏光、眼痛、过度流泪、上睑下垂和白内障。结论:本病例报告和文献综述中所讨论的眼科表现可作为ML4的指标。ML4的早期诊断对于制定多学科管理计划、遗传咨询策略和最大限度地促进受影响个体的视力发展具有重要意义。[J].中华眼科杂志，2016;35(5):332-337。

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Journal of Pediatric Ophthalmology and Strabismus

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