| Ocular Findings in Mucolipidosis Type II. |
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Su Youn Suh, Chong Kun Cheon, Jae Ho Jung |
1Department of Ophthalmology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Korea. jungjaeho@pusan.ac.kr
2Division of Genetics and Metabolism, Department of Pediatrics, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Korea. |
| 뮤코리피드증 제2형 환자의 안 소견 |
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서수연1⋅전종근2⋅정재호1 |
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부산대학교 의학전문대학원 양산부산대학교병원 안과학교실1, 부산대학교 의학전문대학원 양산부산대학교병원 소아청소년과학교실2 |
Correspondence:
Jae Ho Jung,
Email: jungjaeho@pusan.ac.kr
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Received: 12 January 2017 • Revised: 24 February 2017 • Accepted: 18 April 2017 |
| Abstract |
PURPOSE
To report ocular findings of a mucolipidosis type II patient with novel mutation. CASE SUMMARY: A 10-year-old boy visited our pediatric genetic metabolic clinic for evaluation of his overall developmental delay and short stature. The boy was diagnosed with mucolipidosis type II (I-cell disease) using plasma enzyme assay and DNA sequencing of the GNPTAB gene mutation. An ophthalmologic investigation was then performed, and a depressed nasal bridge, broad nose, and swelling in the upper lid of both eyes were noted. The best corrected visual acuity was 0.32 and 0.1 and the intraocular pressure was 35 mmHg and 24 mmHg in the right and left eyes, respectively. The anterior chamber angles of both eyes were normal and mild cornea opacity in both eyes was observed. Fundus examination revealed retinal atrophy with folds in both eyes, as well as optic disc edema and optic atrophy in the right and left eyes, respectively. Atherosclerotic changes in the retinal vessels and cystoid macular edema in the left eye were observed, and ocular ultrasound revealed increased posterior sclera thickness in both eyes. CONCLUSIONS: Ocular manifestations of mucolipidosis type II are not currently well-known, and differentiation from other metabolic disorders may be difficult. An ophthalmic work-up can assist in diagnosis, and regular ophthalmic examinations should be used to maintain visual function in mucolipidosis patients. |
| Key Words:
Cystoid macular edema;Lysosomal storage disease;Mucolipidosis;Retinal atrophy |
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