A familial optic atrophy with X-recessive heredity, distinct from Leber's optic atrophy (LOA), is described. The symptoms are: slight to moderate pallor of the papillomacular bundle at the disc possibly preceded by some hyperaemia of the disc, telangiectasia on the disc with normal retinal vessels, occurrence in the second decade of life, slow progression with often subclinical visual loss, a small relative central scotoma with an intact peripheral visual field, slight acquired tritanopia and deuteranopia, and vasomotor headaches. The disease may exhibit severe exacerbations with loss of vision to 1/60, provoked by vasoconstrictors and reacting favourably to vasodilators. This acute loss of vision is associated with ischaemia of the disc, a deep central scotoma with marked disturbance of colour vision in the form of an acquired deuteranopia, and sensoparalytic pupils. This is followed by increasing pallor of the disc, slow resolution of the central scotoma with a permanent reduction in the central light sensitivity, markedly disturbed Visual Evoked Potentials (VEP), acquired deuteranopia and normal ERG and EOG. In contrast to all hereditary opticopathies so far described, fluorescein angiography showed a disturbance of perfusion in the peripapillary choroid and the prelaminar part of the optic nerve. A similar disturbance of perfusion is described in anterior ischaemic optic neuropathy (AION) and low-tension glaucoma. To these acquired, non-hereditary recessive vascular opticopathies, which usually occur late in life, will have to be added the X-recessive vascular optic atrophy which we describe here, for which we propose the name: X-recessive angiopathic opticopathy. The differential diagnosis from some other hereditary, especially X-recessive, optic atrophies is discussed.
