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Hereditary Optic Atrophy of Leber
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Although familial amaurosis was known in the early eighteenth century, it was Leber in 1871 who gave the de nitive description of this disease and traced it through many genealogies The family studies of Nikoskelainen and coworkers indicate that all daughters of carrier mothers become carriers themselves, a type of transmission that is determined by inheritance of defective mitochondrial DNA from the mother (Wallace et al) In an extensive review of Leber hereditary optic atrophy by the National Hospital group in London, some of the clinical variations are described Common to all their cases was the presence of a pathogenic mitochondrial DNA abnormality (Riordan-Eva et al), but the defect may occur at one of several sites (page 841) Thus, Leber optic atrophy has been added to the growing list of mitochondrial diseases, which, as a group, are discussed in detail in Chap 37 In most patients, the visual loss begins between 18 and 25 years, but the range of age of onset is much broader Usually the visual loss has an insidious onset and a subacute evolution, but it may evolve rapidly, suggesting a retrobulbar neuritis; moreover, in these latter instances, aching in the eye or brow may accompany the visual loss, just as it does in the demyelinative variety Subjective visual phenomena are reported by some Usually both eyes are affected simultaneously, though in some one eye is affected rst, followed by the other after an interval of several weeks or months In practically all cases, the second eye is affected within a year of the rst In the unimpaired eye, abnormalities of visual evoked potentials may antedate impairment of visual acuity (Carroll and Mastaglia) Once started, the visual loss progresses over a period of weeks to months Characteristically, central vision is lost before peripheral, and there is a stage at which bilateral central scotomata are readily demonstrated Early on, perception of blue-yellow is de cient, while that of red and green is relatively preserved In the more advanced stages, however, the patients are totally color-blind Constriction of the elds may be added later At rst there may be swelling and hyperemia of the discs, but soon they become atrophic Peripapillary vasculopathy, consisting of tortuosity and arteriovenous shunting, is the primary structural change; this has been present also in asymptomatic offspring of carrier females As visual symptoms develop, uorescein angiography shows shunting in the abnormal vascular bed, with reduced lling of the capillaries of the papillomacular bundle Although patients are left
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with dense central scotomata, it is of some importance that the visual impairment is seldom complete; in some patients, relative stabilization of visual function occurs In a few, there may be a surprising improvement Examination of the optic nerve lesion shows the central parts of the nerves to be degenerated from papillae to the lateral geniculate bodies, ie, the papillomacular bundles are particularly affected Presumably axis cylinders and myelin degenerate together, as would be expected from the loss of nerve cells in the super cial layer of the retina Both astrocytic glial and endoneurial broblastic connective tissue are increased Tests for the three main mitochondrial mutations that give rise to the disorder are now available Congenital optic atrophy (of which recessive and dominant forms are known), retrobulbar neuritis, and nutritional optic neuropathy are the main considerations in differential diagnosis
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Retinitis Pigmentosa
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This remarkable retinal abiotrophy, known to Helmholtz in 1851 soon after he invented the ophthalmoscope, usually begins in childhood and adolescence Unlike the optic atrophy of Leber, which affects only the third neuron of the visual neuronal chain, retinitis pigmentosa affects all the retinal layers, both the neuroepithelium and pigment epithelium (see Fig 13-1) For this combination, Leber proposed the term tapetoretinal degeneration, thinking it preferable to retinitis pigmentosa, since there is no evidence of in ammation The incidence of this disorder is two or three times greater in males than in females Inheritance is more often autosomal recessive than dominant; in the former, consanguinity plays an important part, increasing the likelihood of the disease by approximately 20 times Sex-linked types are also known It is estimated that 100,000 Americans are af icted with this disease One form of retinitis pigmentosa is linked to mutations on the gene for the photosensitive rod-cell protein opsin (which, in combination with vitamin A, forms rhodopsin) When light strikes rhodopsin in the normal eye, the opsin releases vitamin A, and this initiates the sequence of changes that activate the rods As a consequence of the gene abnormality, the quantity of opsin and rhodopsin in retinitis pigmentosa is reduced; these opsin mutations are typically single amino acid substitutions (Dryja et al) The rst symptom is usually an impairment of twilight vision (nyctalopia) Under dim light, the visual elds tend to constrict; but slowly, as the disease progresses, there is permanent visual impairment in all degrees of illumination The perimacular zones tend to be the rst and most severely involved, giving rise to partial or complete ring scotomata Peripheral loss sets in later Usually both eyes are affected simultaneously, but cases are on record where one eye was affected rst and more severely Color vision is lost relatively late The electrical activity of the retina (measured by the electroretinogram) is gradually extinguished, in contrast to the Leber type of optic atrophy, in which it is retained Ophthalmoscopic examination shows the characteristic triad of pigmentary deposits that assume the con guration of bone corpuscles, attenuated vessels, and pallor of the optic discs The pigment is due to clumping of epithelial cells that migrate from the pigment layer to the super cial parts of the retina as the rod cells degenerate The pigmentary change spares only the fovea, so that eventually the world is perceived by the patient as though he were looking through narrow tubes The many and diverse syndromes to which retinitis pigmen-
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tosa may be linked include: oligophrenia, obesity, syndactyly, and hypogonadism (Bardet-Biedl syndrome); hypogenitalism, obesity, and mental de ciency (Laurence-Moon syndrome); Friedreich and other types of spinocerebellar and cerebellar ataxia; spastic paraplegia and quadriplegia with Laurence-Moon syndrome; neurogenic amyotrophy, myopia, and color-blindness; polyneuropathy and deafness (Refsum disease); deaf mutism; Cockayne syndrome and Bassen-Kornzweig disease; and several mitochondrial diseases particularly progressive external ophthalmoplegia and Kearns-Sayre syndromes The differential diagnosis includes the Batten form of cerebroretinal degeneration (ceroid lipofuscinosis), Pelizaeus-Merzbacher disease, and Gaucher disease as well as the various forms of ceroid lipofuscinosis and retinal infections such as syphilis, toxoplasmosis, and cytomegalic inclusion disease Virtual blindness is the outcome in many cases, but in others the visual failure stops short of that It is doubtful whether any of the many proposed modes of therapy (sympathectomy, steroids, vitamins A and E, coenzyme Q10) have any effect in halting the progress of the disease
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