Faculty Bibliography

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)

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

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

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