Faculty Bibliography

A brother and sister born of a consanguinous marriage had bilateral foveal retinoschisis and a generalized rod-cone dysfunction. This was associated with nyctalopia, hyperopia, minimal vitreous opacities in the sister, a paramacular tapetal sheen reflex, normal retinal vessels, an abnormal electroretinogram, and a normal electro-oculogram in the less affected brother. Foveal retinoschisis is not pathognomonic for x-chromosome-linked juvenile retinoschisis. It may be seen as a manifestation of a macular dystrophy or associated with a generalized tapetoretinal dystrophy

Four members of a family with dominantly inherited macular dystrophy demonstrated the essential features of hereditary hemorrhagic macular dystrophy. They reported decreased visual acuity in the third decade and eventually developed bilateral disease. Fundus evaluations revealed hemorrhagic and exudative maculopathy associated with pigment atrophy, pigment clumping, and eventual glial scar formation. Early stages of the disease manifested a macular subretinal neovascular network. Photocoagulation treatment of subretinal neovascularization was successful in Case 3, unsuccessful in Case 1. Follow-up of these four brothers lasted over a period of two to 12 years. After they reached the cicatricial phase, the size of the lesion and visual symptoms remained stable. Visual function tests in the early and late stages indicated a local or geographic disease. We differentiated this dystrophy from other hereditary causes for subretinal neovascularization. We recommend early obliteration of the subretinal neovascular network with intense photocoagulation because the outcome of untreated hereditary hemorrhagic macular dystrophy is legal blindness

Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual ascuity and a central retinal defect differentiated a localized loss of funciton from a degeneration involving the entire retina

An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two children. Light microscopic examination of eyes obtained from one child, a 16-month-old Japanese girl, revealed subretinal deposits corresponding to the white spots and lines in the fundus deposits. Light and electron microscopic examination of the eye showed distinctive changes in the outer retinal layers and choroid, while the inner retinal layers were nearly normal. Characteristic early lesions of congenital amaurosis appeared to be produced by deposits consisting of loose outer segments and apical processes of the pigmental epithelial cell and macrophages. Undifferentiation in the nuclei of the photoreceptor cell, the inner segment, the pigment epithelial cell, and the choriocapillaris were likely characteristics of the early changes of congenital amaurosis

The hereditary choroidal dystrophies are divided into (1) geographic choroidal dystrophies (central areolar, peripapillary, generalised), (2) gyrate atrophy, and (3) choroideremia. Each of these disorders is discussed with regard to mode of inheritance, age of onset, symptoms, fundus appearance, and visual function testing. A typical case history of each disorder is presented together with fluorescein angiography, and the fluorescein angiographic findings are related to our present understanding of these diseases. Fluorescein angiography was found to be most helpful in diagnosing the early cases, by confirming the absence of the choriocapillaris, and in demonstrating either a local or general abnormality. The role of fluorescein angiography in understanding the aetiology of choroidan dystrophies is discussed

A family with pseudoinflammatory macular dystrophy (PMD) is presented. This dominantly inherited macular dystrophy has its onset in the 3rd to 5th decades with the earliest manifestation being a macular subretinal neovascular network. Visual function tests (ERG, EOG, visual fields, retinal sensitivity) in the early and late stages indicates this is local or geographic disease. This dystrophy should be differentiated from other hereditary causes for subretinal neovascularization (angioid streaks, vitelliform dystrophy, dominant drusen of Bruch's membrane, optic nerve drusen and myopia). It is suggested that treatment be directed at early obliteration of the subretinal neovascularization with intense photocoagulation since the outcome in virtually all cases of untreated PMD is legal blindness