Phillips C I, Stokoe N L
J Pediatr Ophthalmol Strabismus. 1979 Nov-Dec;16(6):358-63. doi: 10.3928/0191-3913-19791101-06.
Two brothers, the only two children of nonconsanguineous parents, have no perception of light, bilateral microphthalmos, and degenerative corneal opacities that just allow observation of shallow anterior chambers and cataracts. The right eye of the older was removed at the age of 6 weeks: "congenital retinal detachment" was found. The birth of a subsequent affected son suggests that recessive genes are responsible. An X-linked gene is calculated to be more likely than autosomal recessive genes. These two males may suffer from a form of Norrie's disease without mental deficiency, however, they may be examples of the severest form of "falciform retinal folds" (autosomal recessive) or they may represent the same end-result from a different inherited pathological process. After the birth of the first affected child, the parents had been reassured that this undiagnosed, and at that time unknown condition, would not affect future children. The tragedy of a second affected child followed. We suggest that recessive genes (autosomal or X-linked) be specifically considered--with literature search--in any sporadic case of a bilateral symmetrical condition of the eyes not hitherto well known, especially if congenital, and in the absence of consanguinity of parents affected males in previous maternal generations. The possibility of a dominant mutation when a single case occurs in a sibship should also be considered.
两兄弟是非近亲父母仅有的两个孩子，他们对光无感知，双眼小眼球，并有退行性角膜混浊，仅能观察到浅前房和白内障。哥哥的右眼在6周龄时被摘除：发现有“先天性视网膜脱离”。随后又出生了一个患病儿子，提示隐性基因起作用。计算得出X连锁基因比常染色体隐性基因更有可能。这两名男性可能患有某种无智力缺陷的诺里病，但他们也可能是“镰状视网膜皱襞”（常染色体隐性）最严重形式的例子，或者他们可能代表不同遗传病理过程的相同最终结果。第一个患病孩子出生后，父母得到保证，这种未确诊且当时未知的病症不会影响未来的孩子。结果第二个患病孩子出生，悲剧随之而来。我们建议，对于任何迄今尚未明确的双眼对称性病症的散发病例，尤其是先天性且父母无血缘关系的病例，应特别考虑隐性基因（常染色体或X连锁），同时进行文献检索，特别是如果患病男性的前几代母系亲属中没有血缘关系。当同胞中出现单个病例时，也应考虑显性突变的可能性。
