Purpose: We present a macular phenotype resulting from 1 or more abnormalities in the developmental pathway of the central retina.
Methods: We describe the clinical and genetic characteristics of 7 patients observed since shortly after birth with regard to visual acuity, refractive error, anterior segment status, retinal findings including foveal structure, and natural history.
Results: The patients varied in age from 18 months to 18 years. All patients were examined for the first time during their first year of life and by us at the age of 5 years or younger. The longest follow-up period was 16 years. The abnormal appearance of the macula consisted of thinning of the retina, rarefication of the pigment epithelium with excess visibility of the large choroidal vessels, and absence of the foveal reflex. The visual acuities varied from 20/20 in the better eye to light perception. A retinal detachment was noted in 1 patient at age 2 1/2 years. The refractive errors varied from -2.50 to -16.50 diopters of spherical equivalent. The disease was limited to the retina in 4 patients. In 2 patients, however, developmental abnormalities of the anterior segment were also present; they consisted of malformation of the iris in 1 patient and Peters' anomaly in the other. The electroretinogram (ERG) showed reduced but not absent photopic responses and some reduction in scotopic responses.
Conclusion: The phenotype of ateliotic macula is being defined as characterized by an unfinished or primordial appearance. In the 7 patients studied, visual loss was noted shortly after birth. The visual outcome was variable with regard to visual acuity, but many patients showed improvement. There was no evidence of significant worsening of the disease with age except in 1 patient who had a retinal detachment. The ERG responses showed primarily photopic but also scotopic changes. The better-preserved ERG differentiates this disorder from Leber's congenital amaurosis.