From The Archives

摘要

Starting from a working definition of hereditary optic atrophy—andisorder of young males manifesting subacute bilateral loss of cen-ntral vision over several months, often resulting in blindness due tonthe large central scotomata, and showing a ‘puzzling’ pattern ofninheritance—John Wilson (in receipt of a Fellowship from thenMedical Research Council) rehearses the history of knowledgenon this condition. In 1871, (Theodor) Leber (1840–1917)ndescribed a form of hereditary optic atrophy (v. Graefe’s Arch.nOphthal. 1871: 17, 2 Abth., 249–91) although, as is usual withn‘first’ descriptions of medical disorders, this had already beennrecognized [by Friedrich Wilhelm Ernst Albrecht von Graefen(1828–70) himself, also published in his own journal (v. Graefe’snArch. Ophthal., 1858: 4 Abth., 211–76)]. The two existing patho-nlogical reports of Leber’s disease (from 1930 and 1958, respect-nively) describe atrophy of the retina, especially the papilla–macularnbundles, extensive demyelination of the optic nerve andntrans-synaptic degeneration throughout the optic tract. AlthoughnLeber acknowledged that ‘in many of our families there occurrednneurological appearances’, (Fergus) Ferguson (1899–1974) andn(Macdonald) Critchley (1900–97) first drew attention to the factnthat the condition may be associated with diffuse neurologicalnsymptoms and signs—epilepsy, intellectual deterioration, spasticnquadriparesis, cerebellar ataxia, spinal cord sensory loss and ‘vari-nous aches and pains’. John Wilson aims to emphasize that ‘visualnfailure [in Leber’s hereditary optic atrophy] is the minimal objectivenevidence of a more diffuse disorder probably having a metabolicnbasis’.