Congenital macular dystrophy, corpus callosum agenesis, hippocampi hypoplasia--a novel neuro-ophthalmic syndrome: case report

Introduction: Macular dystrophy is a cause of childhood and adult visual handicap and has been associated with multiple gene defects. Syndromic macular dystrophy is rare and a novel congenital form of syndromic macular dystrophy is presented. The authors report on a consanguineous family in which the 5-year-old female proband presented with nystagmus and low vision due to congenital macular dystrophy visible on fundus examination associated with complete corpus callosum agenesis, hippocampi hypoplasia and recurrent illnesses.

Materials and methods: Patients signed informed consent forms to participate in the research. Proband was screened for 18 recessive macular dystrophy genes and ABCA4 and had a G banded karyotype on peripheral blood lymphocytes. Patients were evaluated using ocular biomicrosopy, fluorescein retinal angiograms, electroretinograms, visual evoked potentials, retinal optical coherence tomography, brain MRI and multifocal electroretinograms.

Results: The older brother presented with subclinical findings of bilateral absence of foveal macular peak on multifocal electroretinograms and minimal corpus callosum hypoplasia. The younger sister was recently discovered to have a similar macular dystrophy. The father showed subclinical unilateral decreased foveal macular peak and the mother showed a granular-appearing fundus. No mutations were identified in the RP and macular dystrophy genes screened.

Discussion: A review of the literature confirms that this is the first report of a congenital and possibly developmental macular dystrophy, with neurologic syndromic features and possible autosomal recessive inheritance but varying penetrance.