title: 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.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Bini
authors.forename: Andrea
authors.initials: A
authors.lastname: Sodi
authors.forename: Ilaria
authors.initials: I
authors.lastname: Passerini
authors.forename: Ugo
authors.initials: U
authors.lastname: Menchini
authors.forename: Francesca
authors.initials: F
authors.lastname: Torricelli
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D004596:Electroretinography; D005451:Fluorescein Angiography; D006222:Hamartoma / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008268:Macular Degeneration / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D012164:Retinal Diseases / Q000150:complications* / Q000175:diagnosis; D041623:Tomography, Optical Coherence
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters