Folz S J, Trobe J D
W.K. Kellogg Eye Center, Ann Arbor, Michigan.
Surv Ophthalmol. 1991 Mar-Apr;35(5):353-68. doi: 10.1016/0039-6257(91)90185-i.
Several childhood multisystem disorders with prominent ophthalmological manifestations have been ascribed to the malfunction of the peroxisome, a subcellular organelle. The peroxisomal disorders have been divided into three groups: 1) those that result from defective biogenesis of the peroxisome (Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum's disease); 2) those that result from multiple enzyme deficiencies (rhizomelic chondrodysplasia punctata); and 3) those that result from a single enzyme deficiency (X-linked adrenoleukodystrophy, primary hyperoxaluria type 1). Zellweger syndrome, the most lethal of the three peroxisomal biogenesis disorders, causes infantile hypotonia, seizures, and death within the first year. Ophthalmic manifestations include corneal opacification, cataract, glaucoma, pigmentary retinopathy and optic atrophy. Neonatal adrenoleukodystrophy and infantile Refsum's disease appear to be genetically distinct, but clinically, biochemically, and pathologically similar to Zellweger syndrome, although milder. Rhizomelic chondrodysplasia punctata, a peroxisomal disorder which results from at least two peroxisomal enzyme deficiencies, presents at birth with skeletal abnormalities and patients rarely survive past one year of age. The most prominent ocular manifestation consists of bilateral cataracts. X-linked (childhood) adrenoleukodystrophy, results from a deficiency of a single peroxisomal enzyme, presents in the latter part of the first decade with behavioral, cognitive and visual deterioration. The vision loss results from demyelination of the entire visual pathway, but the outer retina is spared. Primary hyperoxaluria type 1 manifests parafoveal subretinal pigment proliferation. Classical Refsum's disease may also be a peroxisomal disorder, but definitive evidence is lacking. Early identification of these disorders, which may depend on recognizing the ophthalmological findings, is critical for prenatal diagnosis, treatment, and genetic counselling.
几种具有显著眼科表现的儿童多系统疾病被认为是由于过氧化物酶体（一种亚细胞器）功能异常所致。过氧化物酶体疾病已被分为三组：1）那些由过氧化物酶体生物合成缺陷引起的疾病（泽尔韦格综合征、新生儿肾上腺脑白质营养不良和婴儿型雷夫叙姆病）；2）那些由多种酶缺乏引起的疾病（肢根型点状软骨发育不良）；3）那些由单一酶缺乏引起的疾病（X连锁肾上腺脑白质营养不良、1型原发性高草酸尿症）。泽尔韦格综合征是三种过氧化物酶体生物合成疾病中最致命的一种，会导致婴儿期肌张力减退、癫痫发作，并在第一年内死亡。眼科表现包括角膜混浊、白内障、青光眼、色素性视网膜病变和视神经萎缩。新生儿肾上腺脑白质营养不良和婴儿型雷夫叙姆病在基因上似乎不同，但在临床、生化和病理方面与泽尔韦格综合征相似，不过症状较轻。肢根型点状软骨发育不良是一种由至少两种过氧化物酶体酶缺乏引起的过氧化物酶体疾病，出生时即出现骨骼异常，患者很少能活过一岁。最突出的眼部表现是双侧白内障。X连锁（儿童期）肾上腺脑白质营养不良由单一过氧化物酶体酶缺乏引起，在第一个十年后期出现行为、认知和视力恶化。视力丧失是由于整个视觉通路脱髓鞘，但外层视网膜未受影响。1型原发性高草酸尿症表现为黄斑旁视网膜下色素增殖。经典型雷夫叙姆病也可能是一种过氧化物酶体疾病，但缺乏确凿证据。这些疾病的早期识别可能取决于对眼科检查结果的认识，这对于产前诊断、治疗和遗传咨询至关重要。
