前瞻性纵向队列中 NGLY1 缺乏症的眼部特征。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-06-01 DOI:10.1016/j.jaapos.2024.103925

Christina H. Frater BS , Maura R.Z. Ruzhnikov MD, FACMG , Shannon Beres MD , Deborah Alcorn MD , Ann Shue MD , Rebecca J. Levy MD, PhD

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引用次数: 0

摘要

背景：NGLY1 缺乏症是一种罕见的常染色体隐性遗传疾病：NGLY1 缺乏症是一种罕见的常染色体隐性遗传疾病，其核心特征为全面发育迟缓、肝酶异常、运动障碍、多发性神经病、眼球发育不全或失明。我们对 NGLY1 缺乏症的前瞻性自然病史进行了研究，以确定眼部表型的全面特征和演变过程：我们在一项自然史研究中收集了 29 名 NGLY1 缺乏症患者的眼科数据。我们审查了医疗记录，以确认护理人员报告的症状。在这 29 名患者中，有 15 人至少接受了一次眼科检查：结果：90%的参与者（26/29）的护理人员报告了至少一种眼部体征或症状，其中最常见的是泪液减少、屈光不正和慢性感染。62%的人每天使用眼药，包括人工泪液、眼药膏和局部抗生素。眼科检查证实，93%（14/15 例）的患者存在屈光不正，73%（11/15 例）的患者存在角膜异常：结论：鉴于 NGLY1 缺乏症患者几乎普遍存在视力减退和其他突出的眼部表现，有针对性的眼部病史和眼科检查有助于及时诊断和及早开展预防性眼部护理，从而保护视力和整体眼部健康。

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Ocular features of NGLY1 deficiency from a prospective longitudinal cohort

Background

NGLY1 deficiency is a rare autosomal recessive disorder with core features of global developmental delay, liver enzyme abnormalities, movement disorder, polyneuropathy, and hypo- or alacrima. We characterized the full spectrum and evolution of the ocular phenotype in a prospective natural history of NGLY1 deficiency.

Methods

We collected ophthalmological data on 29 individuals with NGLY1 deficiency in a natural history study. Medical records were reviewed to confirm caregiver-reported symptoms. Of the 29, 15 participants appeared for at least one ophthalmological examination.

Results

Caregivers reported at least one ocular sign or symptom in 90% of participants (26/29), most commonly decreased tears, refractive error, and chronic infection. Daily eye medication, including artificial tears, ophthalmic ointment, and topical antibiotics were used by 62%. Ophthalmological examination confirmed refractive errors in 93% (14/15) and corneal abnormalities in 73% (11/15).

Conclusions

Given nearly universal hypolacrima and additional prominent ocular findings in NGLY1 deficiency, a targeted ocular history and ophthalmologic examination may facilitate prompt diagnosis and early initiation of preventive eye care, preserving vision and overall ocular health.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.