Retinal astrocytic hamartoma and Stargardt's disease: unusual association in a patient with ABCR mutation without phacomatosis.
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.
Bini
Alessandro
A
Sodi
Andrea
A
Passerini
Ilaria
I
Menchini
Ugo
U
Torricelli
Francesca
F
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
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters