Syndrome of congenital high myopia with nyctalopia. Report of findings in 25 families.
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Three sisters, aged 14 to 25 years, showed ophthalmoscopic findings typical for fundus flavimaculatus with atrophic macular disturbances. Examination of all surviving family members did not disclose any additional affected persons. This four-generation pedigree indicated an autosomal recessive inheritance pattern.
A patient with Best's vitelliform macular dystrophy in his right eye had an intact vitelliform disk and drusen of the optic papilla. Although the foveola elevated by a few tenths of a millimeter, resolution was only slightly affected and the retinal receptors remained remarkably well-aligned, suggesting that mechanisms subserving receptor alignment still functioned. Hue discrimination and visual acuity were only slightly affected and the electroretinogram and visually evoked response showed essentially normal values. The vitelliform disk in the left eye ruptured by direct, blunt trauma. This same eye later developed subretinal macular neovascularization, as its visual acuity reduced, retinal sensitivity decreased, receptor orientation showed abnormalities, and hue discrimination became less efficient; the electroretinogram and visually evoked response remained normal.
Seven patients with chloroquine retinopathy were examined ten years after their therapy with chloroquine or hydroxychloroquine, or both, had been discontinued and an additional five patients with chloroquine retinopathy were similarly examined from two to eight years after their therapy had been discontinued. Visual acuity, visual fields, and ophthalmoscopic examinations were compared to those performed at the time therapy was discontinued. These long-term observations confirmed the previously published observations based on short-term studies that chloroquine retinopathy tends to remain stable after therapy is discontinued, although a few patients in the early stages of retinopathy may show regression and occasionally a patient with a more advanced stage of the disease may show progression.
A 13-year-old boy with fundus flavimaculatus had a macular disease consisting of many transparent cystoid spaces which were not hyperfluorescent on fluorescein angiography. The Stiles-Crawford effect was abnormal, suggesting that the cystoid changes in the maculas created a disorientation of the patient's foveal retinal photoreceptors.
We found an unusual form of macular dystrophy in three patients from two generations of the same family. The fundi of these patients appeared normal by ophthalmoscopy and fluorescein angiography, even in an older patient and in patients with poor visual acuity. Results of full-field electroretinograms were also normal in both cone and rod components. Focal macular electroretinograms were severely affected, however, indicating retinal impairment in the macular region. Results of Tübingen perimetry were consistent with electroretinographic findings. Since the condition was progressive, this disease is thought to be a hereditary macular dystrophy without visible fundus abnormality.
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