Pinckers A, van 't Pad Bosch A A, Aandekerk A L, Cruysberg J R
Department of Ophthalmology, University of Nijmegen, The Netherlands.
Acta Ophthalmol (Copenh). 1988 Jun;66(3):293-8. doi: 10.1111/j.1755-3768.1988.tb04599.x.
The authors examined a patient presenting with congenital sensory neuropathy with selective loss of small myelinated nerve fibres. The appearance of (bilaterial) keratitis or corneal ulceration in early childhood is strongly suggestive of congenital corneal anaesthesia. Concomitant symptoms such as anisocoria, abnormal pupillary reaction, diminished tear production and disturbed sensibility to pain and temperature point to a generalized disease: one of the hereditary sensory and autonomic neuropathies. In order to establish a definite diagnosis, elaborate neurological examination, including ultrastructural study of a muscle-nerve biopsy, is required. Tarsorrhaphy, therapeutic flushfitting PMMA scleral lenses and hydrophilic HEMA contact lenses are advocated, in order to protect the cornea. The results with high-water-content hydrophilic contact lenses are promising, those of keratoplasty limited.
作者检查了一名患有先天性感觉神经病且有选择性小髓鞘神经纤维丧失的患者。儿童早期出现（双侧）角膜炎或角膜溃疡强烈提示先天性角膜麻醉。诸如瞳孔不等大、异常瞳孔反应、泪液分泌减少以及对疼痛和温度的感觉障碍等伴随症状指向一种全身性疾病：遗传性感觉和自主神经病之一。为了做出明确诊断，需要进行详尽的神经学检查，包括对肌肉 - 神经活检进行超微结构研究。提倡行睑裂缝合术、治疗性镶嵌式 PMMA 巩膜镜和亲水性 HEMA 隐形眼镜，以保护角膜。高含水量亲水性隐形眼镜的效果很有前景，角膜移植术的效果有限。
