罕见的减毒粘多糖病IIIA型表现为孤立性色素性视网膜炎。

IF 0.5 Q4 OPHTHALMOLOGY
Josephine R Seela, Jade Y Moon, Sandra R Montezuma
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引用次数: 0

摘要

目的:描述一名成年期孤立性视网膜病变患者,发现其患有IIIA型粘多糖病。方法:对单个病例进行评价。结果:男性,36岁,周围视力及夜视恶化5年。最初的检查和测试引起了对杆状锥体营养不良的关注。Invitae遗传性视网膜疾病小组的基因检测显示,SGSH有2种变体,与IIIA型粘多糖病有关。实验室检测显示肝素- n-硫酸酯酶水平低,硫酸肝素水平升高。这些结果和对文献的全面回顾支持轻度减毒非神经性粘多糖病IIIA型的诊断。结论:这个案例强调了与遗传咨询师合作的必要性,以及提供者在解释基因检测结果时的临床敏锐度的价值。此外,当成人患者出现新发孤立性视网膜色素变性时,考虑IIIA型粘多糖病的重要性被强调。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa.

Purpose: To describe a patient presenting in adulthood with isolated retinopathy found to have mucopolysaccharidosis type IIIA. Methods: A single case was evaluated. Results: A 36-year-old man presented with 5 years of worsening peripheral vision and night vision. The initial examination and testing raised concern for rod-cone dystrophy. Genetic testing with an Invitae Inherited Retinal Disorders Panel showed 2 variants of SGSH, which is associated with mucopolysaccharidosis type IIIA. Laboratory testing showed low heparan-N-sulfatase levels and elevated heparan sulfate levels. These results and a thorough review of the literature support a diagnosis of mild attenuated non-neuronopathic mucopolysaccharidosis type IIIA. Conclusions: This case highlights the necessity for collaboration with genetic counselors and the value of a provider's clinical acumen in interpreting genetic testing results. Furthermore, the importance of considering mucopolysaccharidosis type IIIA when adult patients present with new-onset isolated retinitis pigmentosa is emphasized.

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CiteScore
1.20
自引率
16.70%
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