Retinal astrocytic hamartoma and Stargardt's disease: unusual association in a patient with ABCR mutation without phacomatosis

Abstract

We report the unusual association of a retinal astrocytic hamartoma and Stargardt's disease in a patient with ABCR mutation. A healthy 24-year-old man exhibited the typical fundus appearance of Stargardt's disease in both eyes, associated with a white, well-circumscribed, elevated lesion in the inferotemporal area of the right eye. Molecular genetic examination of the ABCR gene detected three heterozygous missense mutations, described in the literature in association with Stargardt's disease. Optical coherence tomography, fluorangiography, electroretinography and B scan ultrasonography were performed. The clinical findings were consistent with the diagnosis of retinal astrocytic hamartoma. The connection between Stargardt's disease and this tumour has never been previously reported. The astrocytic hamartoma of our patient showed unusual clinical features. This association is probably incidental.

Defining Predictors of Cleft Lip and Palate Risk

“…ABCA4 is a member of a superfamily of transmembrane proteins, and mutations in ABCA4 play a major role in the etiology of retinopathies (www.ncbi.nlm.nih.gov/omim; OMIM #601 691). There is a report of at least an incidental association between Stargardt’s disease (caused by mutations in ABCA4 ) and a tumor of the retina (Bini et al ., 2007). However, it is very likely that the association between cleft lip and palate and the 1p22 locus represents indirect associations with other genes or regulatory elements outside any gene.…”