Iqbal M, Jalili I K
Moorfields Eye Hospital, London, UK.
Eye (Lond). 1998;12 ( Pt 2):260-5. doi: 10.1038/eye.1998.61.
We describe six siblings of a 12-member sibship affected with a macular dystrophy that is congenital in onset and is associated with progressive myopia. The age of these siblings ranged from 7 months to 19 years. The presenting feature was visual impairment and the best corrected visual acuity ranged between 1/60 and 6/36. Myopia ranged from -3.00 dioptres in the youngest to -10.50 dioptres in the second-eldest member. The macular lesions in our patients are characterised by a well-defined area of atrophy of choriocapillaris and retinal pigment epithelium. These lesions progressed with age in both size and depth. The extent of choroidal involvement in the lesions varied from only loss of superficial vasculature to sparing of large choroidal vessels as confirmed by fundus fluorescein angiography. One patient also exhibited bilateral Duane's syndrome (type III) and right unilateral ptosis. To the best of our knowledge such a fully established macular lesion presenting at the age of 6 months and associated with progressive myopia has never been described in literature.
我们描述了一个12人同胞家族中的6名患有黄斑营养不良的同胞。这种黄斑营养不良发病先天性，与进行性近视相关。这些同胞的年龄从7个月到19岁不等。主要表现为视力障碍，最佳矫正视力在1/60至6/36之间。近视度数从最年幼者的-3.00屈光度到第二大者的-10.50屈光度不等。我们患者的黄斑病变特征为脉络膜毛细血管和视网膜色素上皮明确的萎缩区域。这些病变在大小和深度上均随年龄进展。眼底荧光血管造影证实，病变中脉络膜受累程度从仅浅层血管缺失到大型脉络膜血管未受累不等。一名患者还表现出双侧杜安综合征（III型）和右侧单侧上睑下垂。据我们所知，文献中从未描述过在6个月大时出现且与进行性近视相关的如此完全确定的黄斑病变。
