A study of 67 patients with a diagnosis of Stargardt's disease (juvenile macular degeneration) or fundus flavimaculatus showed that, apart from the ophthalmoscopic appearance, there is no clear distinction between these two disorders. The disease is an autosomal recessive macular degeneration that is bilateral and symmetrical in appearance, with diminished central vision as the hallmark symptom. The onset of symptoms usually occurred in the first or second decade, but a substantial number of patients were asymptomatic until the fourth or fifth decade. Psychophysical and electrophysiologic tests indicated that this is a localized and not a generalized retinal dystrophy. While the initial vision in the better eye was 6/12 (20/40) or better in one third of the patients, follow-up studies showed progression to levels between 6/30 (20/100) and 6/60 (20/400).

Adolescent↗

PubMed1978

Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case.

This report is a retrospective study of 33 patients seen over a 16-year period in whom a diagnosis of Leber's congenital amaurosis was made. The findings of an autosomal recessive heredity in 33%, connatal blindness (visual acuity less than 20/200) in 95%m nystagmus in 75%, and a markedly abnormal electroretinogram in 100% is in agreement with the findings of previously published large series. The difficulty in making the correct diagnosis initially was related to the wide variety of fundus findings and a high association (30%) of central nervous system disease. In the differential diagnosis of connatal blindness, only Leber's congenital amaurosis exhibits an absent or markedly diminished response on electroretinogram. The histopathologic findings in a 6-month-old infant with this disorder are compared with those of previously published reports.

Atrophy↗

PubMed1978

Peripapillary pigmentary retinal degeneration.

We studied four patients with peripapillary pigmentary retinal degeneration, an asymptomatic disorder that was probably benign and nonprogressive. The ophthalmoscopic appearance showed a segmental, grayish metallic sheen in association with bone spicule pigmentation, which radiated from the disk along the temporal vessel arcades and joined temporal to the macula. The optic disk, retinal vessels, periphery, and macula were normal in all patients. Visual function tests and fluorescein angiography indicated a segmental disease of the retinal pigment epithelium-photoreceptor complex.

Adult↗

PubMed1978

Familial foveal retinoschisis associated with a rod-cone dystrophy.

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.

Adult↗

PubMed1978

Hereditary hemorrhagic macular 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.

Adult↗

PubMed1978

Polymorphous presentations in vitelliform macular dystrophy: subretinal neovascularisation and central choroidal atrophy.

Two dominantly inherited macular dystrophies demonstrate the difficulty in establishing a diagnosis based on the fundus appearance. In 1 family the propositus presented with unilateral retinal haemorrhage associated with subretinal choroidal neovascularisation which remained unilateral over an 8-year period. In the other family the propositus presented with bilateral central choroidal atrophy. All affected family members had an abnormal electro-oculogram and a normal electroretinogram, suggesting the diagnosis of vitelliform macular dystrophy. Since vitelliform macular dystrophy has a wide range of expressivity, with polymorphous appearances of the fundus, the diagnosis is best made by the presence of a dominant mode of inheritance and an abnormal electro-oculogram.

Adult↗

PubMed1977

Pigment epithelial dystrophy.

Explore the source record for details and available documents.

Chromosome Aberrations↗

PubMed1977

Macular colobomas in Leber's congenital amaurosis.

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.

Adult↗

PubMed1977

Leber's congenital amaurosis.

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.

Blindness↗

PubMed1977

Fluorescein angiography of the hereditary choroidal dystrophies.

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.

Adolescent↗

PubMed1977

Pseudoinflammatory macular dystrophy.

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.

Adult↗