Only a few cases of foveal hypoplasia as an isolated anatomical finding have been reported.' Holm' described three brothers with nystagmus and foveal hypoplasia; Koyanagi7 reported similar findings in a brother and a sister. Uemura and Kumanomido' described seven patients with foveal hypoplasia and nystagmus. Recently Curran and Robb9 described nine patients with foveal hypoplasia and congenital nystagmus.We report here on the clinical and laboratory findings in 15 patients with bilateral foveal hypoplasia as an isolated anatomical finding.
Subjects and methods
Fifteen patients with foveal hypoplasia, congenitalCorrespondence to Dr M Oliver, Eye Department, Kaplan Hospital, 76-1t0) Rchovot, Israel. nystagmus, and low visual acuity, but without evidence of other ocular disorders, were examined and followed up in the Eye Outpatient Department of the Kaplan Hospital, Rehovot.In each patient cycloplegic refraction was determined after the instillation of 2% cyclopentolate drops twice at an interval of half an hour. Subjective refraction was determined a week later. Orthoptic examination, evaluation of colour vision by means of pseudoisochromatic plates, and several dilated fundus examinations were performed in each case. Fluorescein angiography was performed in only seven patients, who were old enough to co-operate. Electroretinograms (ERG) and the visual evoked response (VER) were recorded and measured with the Nicolet CA 1000 apparatus.Genetic studies of the families of the affected patients were carried out wherever possible. The pedigrees of nine families were investigated and a total of 35 individuals, including the 15 patients of this series, were examined. The family pedigrees of three of our patients could not be obtained.
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