Ophthalmology Volume 130, Number 12, December 2023

中文摘要

這篇文章是一個關於Zellweger spectrum disorder (ZSD)的自然歷史(natural history)研究和文獻回顧的眼科發現。目前還沒有對視網膜發現的起始、範圍和進展進行詳細的描述。在這篇文章中，我們描述了迄今最多ZSD患者的眼科發現。主要結果測量項目包括視力、posterior segment 和anterior segment描述、眼震、視力的長期數據顯示隨著時間的推移視力逐漸降低，平均7.8歲時出現法定失明。在ZSD中，視力逐漸惡化並與疾病嚴重程度有關，連續電視圖法(serial ERG)無法用於記錄視力喪失的進展，並且可能存在眼底內裂變性變化。

English Abstract

This content describes a study that investigated ophthalmic findings in patients with Zellweger spectrum disorder (ZSD). The study included the largest number of ZSD patients to date and examined visual acuity, retinal findings, and disease progression. The results showed a slow loss of visual acuity over time, with legal blindness typically occurring at around 7.8 years of age. Ophthalmic findings varied depending on disease severity, with severely affected patients experiencing retinopathy, glaucoma, cataracts, and corneal clouding. Patients with milder disease typically demonstrated retinitis pigmentosa, macular atrophy, and reduced visual findings on electroretinography. The study aimed to inform the development of potential therapies to improve vision outcomes in ZSD patients. However, more research is needed to accurately characterize ophthalmic findings and establish ideal cohorts and visual endpoints for clinical trials.