{"title":"IV型粘脂病患者眼部表现的高度相关性","authors":"David Gibson, Vikram Brar, Rachel Li, Arun Kalra, Allison Goodwin, Natario Couser","doi":"10.3928/01913913-20211206-03","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To present a case report of mucolipidosis type IV (ML4) and review the literature for all of the ophthalmic abnormalities associated with this disease.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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. <b>[<i>J Pediatr Ophthalmol Strabimus</i>. 2022;59(5):332-337.]</b>.</p>","PeriodicalId":519537,"journal":{"name":"Journal of Pediatric Ophthalmology and Strabismus","volume":" ","pages":"332-337"},"PeriodicalIF":0.0000,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The High Association of Ophthalmic Manifestations in Individuals With Mucolipidosis Type IV.\",\"authors\":\"David Gibson, Vikram Brar, Rachel Li, Arun Kalra, Allison Goodwin, Natario Couser\",\"doi\":\"10.3928/01913913-20211206-03\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>To present a case report of mucolipidosis type IV (ML4) and review the literature for all of the ophthalmic abnormalities associated with this disease.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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. <b>[<i>J Pediatr Ophthalmol Strabimus</i>. 2022;59(5):332-337.]</b>.</p>\",\"PeriodicalId\":519537,\"journal\":{\"name\":\"Journal of Pediatric Ophthalmology and Strabismus\",\"volume\":\" \",\"pages\":\"332-337\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Pediatric Ophthalmology and Strabismus\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3928/01913913-20211206-03\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/2/22 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Ophthalmology and Strabismus","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3928/01913913-20211206-03","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/2/22 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
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.].
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