The authors report a case of benign familial flecked retina with possible autosomal dominant inheritance, based on a pedigree analysis of four-generations. A total of eight affected individuals were identified from one family, none who had ocular abnormalities aside from the retinal flecks. The authors also describe a progressive age-dependent darkening and confluence of flecks with time with typical phenotypic expression between 1 and 2 years. W e describe a four-generation family with multiple subjects affected with benign fleck retina. None of the eight affected individuals had any ocular abnormalities other than the retinal findings, and results of electrophysiological testing were normal. Pedigree analysis suggests a possible autosomal dominant inheritance with phenotype expression between 1 year and 2 years.
Case ReportA 14-year-old boy presented for a routine eye examination. He had a history of occasional headaches with no specific ocular complaints. At examination, best-corrected visual acuity was 20/20 in both eyes. The anterior segments were unremarkable. Fundus examination revealed multiple cream discreet flecks scattered uniformly across the retina in both eyes, sparing the fovea (Fig. 1). Slit-lamp biomicroscopy demonstrated that the lesions were flat and not raised and the retinal vessels were coursing normally over them. The flecks were distributed in a concentric pattern around the posterior fundus with a varied configuration, the centrally located flecks being round to oblong and the more peripheral flecks extending up to the equator being larger in dimension with sinusoidal or amoeboid outlines. The disks and maculae appeared normal, and the retinal vessels were of normal diameter and distribution. Visual fields were normal in both eyes. Fundus fluorescein angiography showed multiple discrete hyperfluorescent lesions in the early frames. The intensity of hyperfluorescence decreased in the late frames of the angiogram, suggesting transmission defects. Color vision by Ishihara pseudochromatic plates and results of Farnsworth dichotomous (D-15) testing were normal for both eyes. The full-field electroretinogram recorded under both photopic and scotopic conditions was normal for both eyes. The proband's mother (Fig. 2) and two siblings (III-2 and III-3) were affected, but the configuration of the flecks differed (Fig. 3). Some of the siblings of the mother (II-1 and II-6) were also affected (pedigree chart; Fig. 4). It is interesting that the child (IV-1) born out of a second-degree consanguineous marriage between two affected parents (III-1 and III-2) at 6 months of age had a normal fundus but when reexamined at 18 months of age had the typical fundus picture described, although the flecks were much smaller and fewer in number. The proband's mother had a slightly different pattern, with much smaller central flecks and the more peripheral lesions assuming the typical large flecks described. However, none of the family members examined had a history of any ocular complaints and had no ocular or syst...
