Satorre J, López J M, Martinez J, Piñera P
Unidad de Oftalmologia, Hospital Marina Alta del SVS Denia, Alicante, Spain.
J Pediatr Ophthalmol Strabismus. 1990 May-Jun;27(3):148-52. doi: 10.3928/0191-3913-19900501-11.
Hereditary bilateral macular colobomata are not a consequence of an anomalous closure of the fetal fissure. Their extreme rarity, their lack of embryological explanation, and their morphologic similarity to postinflammatory congenital macular scars called the hereditary-malformative etiology of this entity in question. The authors describe a four generation family with seven affected members with isolated autosomal dominant bilateral macular colobomata.
遗传性双侧黄斑缺损并非胎儿裂孔异常闭合的结果。其极为罕见,缺乏胚胎学解释,且在形态学上与炎症后先天性黄斑瘢痕相似,这使得人们对该病症的病因提出了遗传性畸形的观点。作者描述了一个四代家族,其中七名成员患有孤立性常染色体显性遗传性双侧黄斑缺损。