Molecular genetic and pathophysiological study of new hereditary retinal diseases.

“隐匿性黄斑营养不良”是我们发现的一个新的临床实体，对36例患者的临床特点进行了研究。8个家系为常染色体显性遗传。视力0.1~1.0，多为红绿色视功能障碍。眼底和荧光血管造影正常，但OCT细节分析显示，许多患者的黄斑厚度明显低于正常。我们证明了ERG阴性的先天性静止性夜盲分为完全型和不完全型两种亚型，这两种类型是不同的临床实体。我们的假设被分子遗传学证明是正确的。我们从分子遗传学和几种视觉功能方面对90例患者进行了研究。约半数完全型患者存在NYX基因突变，所有不完全型患者均存在CACNA1F基因突变。ERG结果显示完全型具有ON双极细胞的选择性功能障碍，而不完全型具有ON和OFF双极细胞的不完全功能障碍，此外，我们研制的黄斑ERG记录表明，完全型黄斑的功能不同于完全型视网膜的其他部分。这一结果可能合理地解释了许多患者在视觉通路完全缺陷的情况下仍表现出正常的色觉和接近正常的对比敏感度。

"Occult macular dystrophy" is a new clinical entity detected by us and the clinical characteristics of 36 patients was studied. The autosomal dominant inheritance was suggested in 8 families. The visual acuity ranged from 0.1 to 1.0 and many patients showed red-green color vision deficiency. The fundi and fluorescein angiography were normal, however the detail analysis of OCT indicated that the thickness of the macula is significantly thinner than normal in many patients.We demonstrated that the congenital stationary night blindness with negative ERG is classified into two subtypes, complete and incomplete type, which are different clinical entities. Our hypothesis was proven true by molecular genetics. We studied 90 patients in terms of the molecular genetics and several visual functions. About half of the patients with complete type, the NYX gene mutation was shown, and all incomplete type patients showed CACNA1F gene mutation. The ERG findings indicated that the complete type has the selective dysfunction of the ON bipolar cell, while incomplete type has the incomplete dysfunction of both ON and OFF bipolar cells.Furthermore, the focal macular ERG recording, which we have developed suggested that the function of macula is different from other part of the retina in complete type. This result may be reasonable to explain that many patients show normal color vision and near normal contrast sensitivity in spite of the complete defect of ON visual pathway.