Differential diagnosis between the primary total choroidal vascular atrophies

Abstract

Two patients with choroideremia and three patients with central regional total choroidal vascular atrophy (CRT) were studied by fluorescein angiography, retinal function tests, and plasma amino acid estimation. The results were compared with those obtained earlier in gyrate atrophy of the choroid and retina. Fine, dense, velvet like pigmentation, on which glittering crystals are situated, in the macula and peripheral retina were observed to be typical in gyrate atrophy at a late stage of the disease; this pigmentation was lacking in choroideremia although the retinal function tests are similarly defective in both diseases. The fundus changes, as well as retinal function tests, in CRT were different from those in gyrate atrophy or choroideremia. Hyperornithinaemia, which is constantly present in gyrate atrophy, was lacking in choroideremia and of CRT.