Congenital hereditary bilateral nonattachment of retina: a sibship of two males.

Abstract

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.