并发Wagner综合征与早产儿视网膜病变

Q3 Medicine

American Journal of Ophthalmology Case Reports Pub Date : 2025-07-22 DOI:10.1016/j.ajoc.2025.102392

Landon J. Rohowetz, David W. Redick, Kenneth C. Fan, Audina M. Berrocal

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引用次数: 0

摘要

目的描述1例伴有早产儿视网膜病变（ROP）的Wagner综合征患者的临床特征。一位23岁的西班牙裔男性接受视网膜检查。患者有双眼退行性ROP病史，从未治疗过。患者出生时胎龄26周，作为新生儿接受补充氧。他还报告了6岁时斜视的手术史。双眼最佳矫正视力为20/30。明显屈光显示双眼近视- 8.25屈光度。后节检查显示双眼玻璃体粘连、颞嵴退行、色素晶格变性和萎缩性孔洞。荧光素血管造影示颞骨小血管渗漏，双眼染色，无渗出。视网膜电图显示双眼a波和b波振幅降低。黄斑光学相干断层扫描显示双眼中央凹轮廓变钝。基因检测显示一个杂合型变异（VCAN）： c.425C >；T (p.Thr142Met)。结论和重要性：本病例是罕见的合并疾病，强调了在有ROP病史的患者中考虑并发视网膜和玻璃体视网膜疾病的重要性。

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Concurrent Wagner syndrome and retinopathy of prematurity

Purpose

To describe the clinical features of a patient with Wagner syndrome and a history of retinopathy of prematurity (ROP).

Observations

A 23-year-old Hispanic male was referred for retina evaluation. The patient had a history of regressed ROP in both eyes that was never treated. The patient was born at 26-weeks gestational age and received supplemental oxygen as a neonate. He also reported a history of strabismus treated with surgery at 6 years of age. Best-corrected visual acuity was 20/30 in both eyes. Manifest refraction revealed −8.25 diopters of myopia in both eyes. Posterior segment examination demonstrated vitreous syneresis, a regressed temporal ridge, pigmented lattice degeneration, and atrophic holes in both eyes. Fluorescein angiography revealed temporal small vessel leakage and staining in both eyes without exudation. Electroretinography demonstrated reduced a- and b-wave amplitudes in both eyes. Optical coherence tomography of the macula revealed a blunted foveal contour in both eyes. Genetic testing revealed a heterozygous versican (VCAN) mutation: c.425C > T (p.Thr142Met).

Conclusion and importance

The current case represents a rare combination of diseases and underscores the importance of considering concurrent retinal and vitreoretinal conditions in patients with a history of ROP.

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来源期刊

American Journal of Ophthalmology Case Reports Medicine-Ophthalmology

CiteScore

2.40

自引率

0.00%

发文量

513

审稿时长

16 weeks

期刊介绍： The American Journal of Ophthalmology Case Reports is a peer-reviewed, scientific publication that welcomes the submission of original, previously unpublished case report manuscripts directed to ophthalmologists and visual science specialists. The cases shall be challenging and stimulating but shall also be presented in an educational format to engage the readers as if they are working alongside with the caring clinician scientists to manage the patients. Submissions shall be clear, concise, and well-documented reports. Brief reports and case series submissions on specific themes are also very welcome.