| Popis: |
A family including six generations and 31 individuals is described. Sixteen were affected with congenital optic atrophy; in ten of these the condition has been verified by expert examination. Out of the sixteen, ten were males and six females, a sex-incidence differing considerably from that in Leber's disease. In our pedigree, inheritance is dominant and is always through an affected mother, never through an unaffected mother or through the father. In typical Leber's disease it is through an unaffected mother, i.e. it is recessive.In the family now described, the optic atrophy appears to be stationary. In all the cases that have been seen the discs are white, with well-defined margins and no filling-in of the central cups, even in those cases that retain some useful vision. Instead of a central scotoma as in Leber's disease, there is peripheral restriction, in some cases severe, but in others only slight. No ring or paracentral scotoma or any colour scotoma have been demonstrated. Except the atrophic discs there are no definite ophthalmoscopic changes. Nystagmus is either constant or intermittent in nearly all the cases. No other congenital anomalies have been noted, either in the affected or the unaffected members of our pedigree, or are known to exist in any relatives. There is no consanguinity which might be a factor in the causation.There are several recorded pedigrees of family optic atrophy differing from Leber's disease in some respects, but the only ones at all resembling ours are those of (1) J. M. Griscom and (2) Rampoldi. In (1) eight males and six females included in three generations had optic atrophy dating from early childhood. The inheritance was dominant but was through an affected father. In (2) seven members of a pedigree of four generations are presumed to have had optic atrophy inherited directly from an affected father in two cases, and from an affected mother in four.Taken together, these instances suggest that there may exist a form of congenital or family optic atrophy in which inheritance is of the dominant type, which in some families is transmitted through the father only, in others through the mother, and in others sometimes through the father and sometimes through the mother. |
