Retinal Aplasia as a Clinical Entity
Retinal Aplasia as a Clinical Entity
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视网膜发育不全作为一种临床实体
作者：
A. Sorsby;C. Williams
婴儿失明有时见于明显正常的眼睛或有轻微眼底异常的眼睛。这类病例存在相当大的诊断困难。通常不确定磁盘是正常的还是萎缩的。偶尔也会用到“皮质盲”这个术语，尽管这只不过是逃避现实问题的术语而已。当出现眼底异常时，它们通常是不明确的，并且具有非特征性的外观，例如偶尔出现弥漫性细色素沉着，称为“胡椒盐眼底”，这是对某种形式的视网膜萎缩的相当明确的认识。这些眼底明显正常或眼底有轻微异常的病例的后史尚未很好地确定。以下的病例报告表明，这些病例中的一些，无论如何，是遗传的起源和渐进的特征。
Blindness in infants is occasionally seen with apparently normal eyes or eyes in which minimal fundus anomalies are present. Such cases present considerable diagnostic difficulties. Frequently there is uncertainty whether the disks are normal or atrophic. and tho term "cortical blindness" is occasionally used, though this is little more than a terminological escape from a real problem. When fundus anomalies are present they are generally ill defined and have an uncharacteristic appearance, such as the occasional diffuse fine pigmentation that goes under the designation of " pepper-and-salt fundus "-a fairly definite recognition that there is some form of retinal atrophy. The after-history of these cases with apparently normal fundi or fundi with minimal anomalies is not well established. The following case reports are presented as indicating that some of these cases, at any rate, are genetic in origin and progressive in character.