Abstract：
UNASSIGNED: This cross-sectional study describes the ophthalmological and general phenotype of 10 patients from six different families with a comparatively mild form of Zellweger spectrum disorder (ZSD), a rare peroxisomal disorder.
UNASSIGNED: Ophthalmological assessment included best-corrected visual acuity (BCVA), perimetry, microperimetry, ophthalmoscopy, fundus photography, spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) imaging. Medical records were reviewed for medical history and systemic manifestations of ZSD.
UNASSIGNED: Nine patients were homozygous for c.2528 G > A (p.Gly843Asp) variants in PEX1 and one patient was compound heterozygous for c.2528 G>A (p.Gly843Asp) and c.2097_2098insT (p.Ile700TyrfsTer42) in PEX1. Median age was 22.6 years (interquartile range (IQR): 15.9 - 29.9 years) at the most recent examination, with a median symptom duration of 22.1 years. Symptom onset was variable with presentations of hearing loss (n = 7) or nyctalopia/reduced visual acuity (n = 3) at a median age of 6 months (IQR: 1.9-8.3 months). BCVA (median of 0.8 logMAR; IQR: 0.6-0.9 logMAR) remained stable over 10.8 years and all patients were hyperopic. Fundus examination revealed a variable retinitis pigmentosa (RP)-like phenotype with rounded hyperpigmentations as most prominent feature in six out of nine patients. Electroretinography, visual field measurements, and microperimetry further established the RP-like phenotype. Multimodal imaging revealed significant intraretinal fluid cavities on SD-OCT and a remarkable pattern of hyperautofluorescent abnormalities on FAF in all patients.
UNASSIGNED: This study highlights the ophthalmological phenotype resembling RP with moderate to severe visual impairment in patients with mild ZSD. These findings can aid ophthalmologists in diagnosing, counselling, and managing patients with mild ZSD.
UNASSIGNED: Ophthalmological assessment included best-corrected visual acuity (BCVA), perimetry, microperimetry, ophthalmoscopy, fundus photography, spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) imaging. Medical records were reviewed for medical history and systemic manifestations of ZSD.
UNASSIGNED: Nine patients were homozygous for c.2528 G > A (p.Gly843Asp) variants in PEX1 and one patient was compound heterozygous for c.2528 G>A (p.Gly843Asp) and c.2097_2098insT (p.Ile700TyrfsTer42) in PEX1. Median age was 22.6 years (interquartile range (IQR): 15.9 - 29.9 years) at the most recent examination, with a median symptom duration of 22.1 years. Symptom onset was variable with presentations of hearing loss (n = 7) or nyctalopia/reduced visual acuity (n = 3) at a median age of 6 months (IQR: 1.9-8.3 months). BCVA (median of 0.8 logMAR; IQR: 0.6-0.9 logMAR) remained stable over 10.8 years and all patients were hyperopic. Fundus examination revealed a variable retinitis pigmentosa (RP)-like phenotype with rounded hyperpigmentations as most prominent feature in six out of nine patients. Electroretinography, visual field measurements, and microperimetry further established the RP-like phenotype. Multimodal imaging revealed significant intraretinal fluid cavities on SD-OCT and a remarkable pattern of hyperautofluorescent abnormalities on FAF in all patients.
UNASSIGNED: This study highlights the ophthalmological phenotype resembling RP with moderate to severe visual impairment in patients with mild ZSD. These findings can aid ophthalmologists in diagnosing, counselling, and managing patients with mild ZSD.
摘要：
■这项横断面研究描述了来自六个不同家庭的10名患者的眼科和一般表型，这些患者患有相对轻度的Zellweger谱系障碍（ZSD），一种罕见的过氧化物酶体紊乱.
■眼科评估包括最佳矫正视力（BCVA），视野检查,显微视野,检眼镜,眼底摄影,频域光学相干层析成像(SD-OCT),和眼底自发荧光（FAF）成像。对ZSD的病史和全身表现进行了病历审查。
■9例患者的c.2528G>A纯合（p。PEX1中的Gly843Asp）变体，一名患者为c.2528G>A的复合杂合（p。Gly843Asp）和c.2097_2098insT（p。Ile700TyrfsTer42)在PEX1。最近一次检查的中位年龄为22.6岁（四分位数间距（IQR）：15.9-29.9岁），症状持续时间中位数为22.1年。在中位年龄为6个月（IQR：1.9-8.3个月）时，症状发作随听力损失（n=7）或夜视/视力下降（n=3）的表现而变化。BCVA（中位数为0.8logMAR；IQR：0.6-0.9logMAR）在10.8年中保持稳定，所有患者均为远视。眼底检查显示，在9例患者中，有6例表现出可变的色素性视网膜炎（RP）样表型，其中最突出的特征是圆形色素沉着。视网膜电描记术,视野测量,和显微视野进一步建立了RP样表型。在所有患者中，多模式成像显示SD-OCT上有明显的视网膜内液腔，并且FAF上有明显的高自发荧光异常模式。
■本研究强调了轻度ZSD患者中类似于中度至重度视力障碍的RP的眼科表型。这些发现可以帮助眼科医生诊断，咨询,管理轻度ZSD患者。
■眼科评估包括最佳矫正视力（BCVA），视野检查,显微视野,检眼镜,眼底摄影,频域光学相干层析成像(SD-OCT),和眼底自发荧光（FAF）成像。对ZSD的病史和全身表现进行了病历审查。
■9例患者的c.2528G>A纯合（p。PEX1中的Gly843Asp）变体，一名患者为c.2528G>A的复合杂合（p。Gly843Asp）和c.2097_2098insT（p。Ile700TyrfsTer42)在PEX1。最近一次检查的中位年龄为22.6岁（四分位数间距（IQR）：15.9-29.9岁），症状持续时间中位数为22.1年。在中位年龄为6个月（IQR：1.9-8.3个月）时，症状发作随听力损失（n=7）或夜视/视力下降（n=3）的表现而变化。BCVA（中位数为0.8logMAR；IQR：0.6-0.9logMAR）在10.8年中保持稳定，所有患者均为远视。眼底检查显示，在9例患者中，有6例表现出可变的色素性视网膜炎（RP）样表型，其中最突出的特征是圆形色素沉着。视网膜电描记术,视野测量,和显微视野进一步建立了RP样表型。在所有患者中，多模式成像显示SD-OCT上有明显的视网膜内液腔，并且FAF上有明显的高自发荧光异常模式。
■本研究强调了轻度ZSD患者中类似于中度至重度视力障碍的RP的眼科表型。这些发现可以帮助眼科医生诊断，咨询,管理轻度ZSD患者。
