A syndrome of multiple fundal anomalies in siblings with microcephaly without mental retardation

Chorioretinal and retinal anomalies, among others, have been described in association with true autosomal recessive microcephaly. Accompanying hypertrophy of retinal pigment epithelium has been described in association with Gardner's syndrome. We present the cases of three siblings (two boys and one girl) with true autosomal recessive microcephaly without mental retardation and without associated systemic anomalies who showed hypertrophy of the retinal pigment epithelium similar to that described in Gardner's syndrome. In the boys, these spots were located on a background of fine variations in pigment, with scattered depigmented atrophic areas revealing the sclera in the peripheral and midperipheral fundus. Superadded white spots were located in front of the retinal vessels. The younger boy also had discrete patches of chorioretinal atrophy of 0.5 to 1 disc diameter. The girl, in addition to the hyperpigmented spots, had a diffuse area of chorioretinal atrophy. The anomalies described above suggest that congenital hypertrophy of the retinal pigment epithelium is not unique to Gardner's syndrome.