Riemslag Frans C C
Doc Ophthalmol. 2009 Aug;119(1):1-7. doi: 10.1007/s10633-008-9161-6. Epub 2009 Jan 10.
For a visually impaired child, the accurate establishment of the diagnosis provides information on the prognosis of his or her participation possibilities, including expectations about the need for care, and provides the basis for informed genetic counseling. To maximize the diagnostic value of electrophysiological testing, we use extensions of the standard ISCEV (International Society for Electrophysiology in Vision) protocols for both the ERG (electroretinogram) and the VEP (visual evoked potential). An overview of 3 years' practice of the Department of Ophthalmology of Bartiméus, presented at ISCEV in Glasgow, showed that, as a result of our electrophysiological assessment, in about 10% of the cases the diagnosis at referral had to be changed from a progressive to a stationary disorder or the reverse. It is obvious that these parameters drastically change the strategy to attain "coming to terms with the disorder". It turns out that for the visually impaired child or his or her parents as well as for the professionals in the rehabilitation institutes, the terminology used to describe a disorder can be unnecessarily alarming rather than comprehensible or even realistic. Terminology needs to be clear and understandable, with a clearcut distinction between the description of visual functions and the name of a disorder. In albinism, the bad connotation of the name of this disorder together with the finding of non-albinos with misrouting and definite albinos without it forces us to reconsider the nomenclature. With congenital stationary night blindness (CSNB), the finding of youngsters who are clearly capable of mobility at night and the fact that the term night blindness refers to a function instead of a disorder forces us even more to reconsider nomenclature.
对于视力受损儿童，准确的诊断能提供有关其参与可能性预后的信息，包括对护理需求的预期，并为进行知情的遗传咨询提供依据。为了使电生理测试的诊断价值最大化，我们对视网膜电图（ERG）和视觉诱发电位（VEP）均采用了国际临床视觉电生理学会（ISCEV）标准方案的扩展版本。在格拉斯哥举行的ISCEV会议上展示的巴蒂缪斯眼科部门三年实践概述表明，由于我们的电生理评估，在约10%的病例中，转诊时的诊断不得不从进行性疾病改为静止性疾病，或者相反。显然，这些参数极大地改变了应对“适应疾病”的策略。结果表明，对于视力受损儿童或其父母以及康复机构的专业人员来说，用于描述疾病的术语可能会不必要地令人担忧，而不是易于理解甚至符合实际情况。术语需要清晰易懂，视觉功能描述和疾病名称之间要有明确区分。在白化病中，该疾病名称的不良含义，以及发现非白化病患者存在神经纤维错路而明确的白化病患者却没有这种情况，迫使我们重新考虑命名法。对于先天性静止性夜盲（CSNB），发现一些年轻人夜间明显能够活动，以及“夜盲”一词指的是一种功能而非一种疾病这一事实，更迫使我们重新考虑命名法。
