Pseudo-inflammatory chorioretinal degeneration of the posterior pole. Study of a family of four affected generations, associated with tapetoretinal amaurosis (Leber) in the fifth generation.
A description is given of a large family in which a particular form of posterior pole dystrophy occurs, but in which (except for one 21-year-old patient) no symptoms occur before the age of forty. Although it is of dominant transmission through four generations with a high degree of penetrance, slight forms do occur. The disease evolves in 2-4 years and in serious cases there is total loss of the central vision. Peripheral vision is conserved, so that affected patients are never entirely disabled and dependent. Early or slight cases may be precociously detected by angiography or sensitive functional tests (EOG, VER, and perhaps colour vision). The rapid evolution is due to exudative or haemorrhagic phenomena. This observation corresponds with the description of the disease individualized by Sorsby (pseudo-inflammatory posterior pole dystrophy) and is related to colloid degeneration. In the fifth generation a case of Leber's congenital amaurosis occurs, which is difficult to relate to the late posterior pole dystrophy.