Leber hereditary optic neuropathy (optic atrophy amaurosis; pituitary syndrome; leber syndrome)

General: Male preponderance; in acute phase of neuropathy there are three characteristic fundus changes: circumpapillary micro angiopathy, pseudoedem 111e42b a around the disk, and absence of staining on fluorescein angiography; possibly a toxic metabolic disorder, an abnormality of cyanide metabolism, or an effect of smoking; maternally inherited disease affecting young males presenting with unilateral or bilateral visual loss; second eye becomes involved within weeks to months later; positive association with an inherited mutation in mitochondrial deoxyribonucleic acid (DNA).

Ocular: Sudden severe loss of vision, which usually reaches its maximum after I or 2 months; complete blindness rare; central vision remains seriously impaired; occasional considerable visual improvement; sheathing of retinal vessels; circumpapillary telangiectatic microangiopathy; initial low-grade optic neuritis, then bilateral optic atrophy (partial or complete); possible swelling of the disk with hemorrhages and exudates, but usually transitory; nystagmus; macular colobomas; optic disk edema; cataracts; keratoconus; hyperemia of the disk; swelling of peripapillary nerve fiber layer.

Clinical: Headaches and vertigo; Uhthoff sign.

Godel V, et al. Congenital Leber amaurosis, keratoconus, and mental retardation in familial juvenile nephronophthisis. J Pediatr Ophthalmol Strabismus 1978; 15:89-91.

Leber T. Beitrage zur Kenntniss dee Atrophischen Veranderungen des Schnerven nebst Bemerkungen uber die normale Structur des Nerven. Arch Ophthalmol 1868; 14:164-l76.

Newman NJ. Leber's hereditary optic neuropathy. Ophthalmol Clin N Am 1991; 4:431.

Hurko O. Mitochondrial DNA mutations in Leber's optic neuropathy. Ann Neurol 1994; 35:636.

Nikoskelainen E, et al. Early phase in Leber hereditary optic atrophy. Arch Ophthalmol 1977; 95:969.

Nikoskelainen EK, et al. Leber's hereditary optic neuroretinopathy: a maternally inherited disease. Arch Ophthalmol 1987; 105:665-671.

Smith JL, et al. Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol 1973; 90:349.

Wagner RS, et al. High hyperopia in Leber's congenital amaurosis. Arch Ophthalmol 1985; 103:1507-l509.