Spedick M J, Beauchamp G R
J Pediatr Ophthalmol Strabismus. 1986 Mar-Apr;23(2):58-63. doi: 10.3928/0191-3913-19860301-04.
Albinism is a condition in which the pigment melanin may not be synthesized from tyrosine. The fundus photographs of 24 eyes of 12 patients with the clinical diagnosis of either ocular or oculocutaneous albinism were reviewed. We observed two findings that to our knowledge have not been reported previously. Eighteen eyes of ten patients had prominent retinal vessels coursing through the putative macular area instead of arching around it. Large noncilioretinal vessels extended from the disc to the dysplastic "foveal zone" in eight eyes of five patients. Typical optic nerve hypoplasia (ONH) was seen in six eyes of four patients; features suggestive of ONH were present in an additional ten eyes of six patients. The cross-over (sharing) of clinical features between albinism and aniridia is striking and raises questions about pathophysiologic mechanisms.
白化病是一种无法由酪氨酸合成色素黑色素的病症。我们回顾了12例临床诊断为眼白化病或眼皮肤白化病患者的24只眼睛的眼底照片。我们观察到两项据我们所知此前未被报道过的发现。10例患者的18只眼睛中，视网膜血管穿过假定的黄斑区而非环绕其呈弓形分布。5例患者的8只眼睛中，粗大的非睫状视网膜血管从视盘延伸至发育异常的“黄斑区”。4例患者的6只眼睛出现典型的视神经发育不全（ONH）；另外6例患者的10只眼睛存在提示ONH的特征。白化病与无虹膜之间临床特征的交叉（共享）十分显著，这引发了关于病理生理机制的疑问。
