Donatien Philippe, Aigner Bernhard, Jeffery Glen
Institute of Ophthalmology, University College London, Bath Street, UK.
Eur J Neurosci. 2002 May;15(10):1597-602. doi: 10.1046/j.1460-9568.2002.02022.x.
Ocular melanin regulates retinal development, including cell density gradients in the central retina, a region essential for normal visual acuity. In albinos this region is underdeveloped and peak cell numbers are reduced. It is not known whether there is a dosage relationship between pigmentation and the degree of this underdevelopment, as studies of the retinal effects of albinism have commonly used rodents. These have poorly developed central regions even in the wild type. Rabbits, however, have a unique, highly specialized, visual streak in the central retina where cell density gradients are very steep and these are reduced in albinos. Here, cell densities in the ganglion cell layer of separate groups of rabbits, with different levels of ocular pigmentation and known mutations of the tyrosinase gene coding sequence, were examined. These revealed reductions in peak cell densities and/or in the regions over which high cell densities were maintained in all hypopigmented phenotypes. There was no dosage relationship between levels of pigmentation and deficits in the ganglion cell layer as animals with relatively small reductions in retinal pigment had deficits comparable to those found in albinos. The greatest variability between pigmentation phenotypes was between the two completely unpigmented strains. Consequently, although pigment may regulate the development of the central retina, this study failed to show that it does so in a dose-dependent manner.
眼部黑色素调节视网膜发育,包括中央视网膜中的细胞密度梯度,该区域对正常视力至关重要。在白化病患者中,该区域发育不全,细胞数量峰值减少。由于对白化病视网膜效应的研究通常使用啮齿动物,目前尚不清楚色素沉着与这种发育不全程度之间是否存在剂量关系。即使在野生型中,这些动物的中央区域发育也很差。然而,兔子在中央视网膜中有一个独特的、高度特化的视觉条纹,那里的细胞密度梯度非常陡峭,而在白化病兔子中这些梯度会降低。在这里,研究了不同眼部色素沉着水平且已知酪氨酸酶基因编码序列存在突变的不同组兔子的神经节细胞层中的细胞密度。这些结果显示,在所有色素沉着不足的表型中,细胞密度峰值和/或维持高细胞密度的区域都有所减少。色素沉着水平与神经节细胞层缺陷之间不存在剂量关系,因为视网膜色素减少相对较小的动物与白化病动物的缺陷相当。色素沉着表型之间最大的变异性存在于两个完全无色素的品系之间。因此,尽管色素可能调节中央视网膜的发育,但这项研究未能表明其是以剂量依赖的方式进行的。