Stargardt disease

Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease

M. Oldani, Marchi, S., Giani, A., Cecchin, S., Rigoni, E., Persi, A., Podavini, D., Guerrini, A., Nervegna, A., Staurenghi, G., and Bertelli, M., Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease, vol. 11, pp. 4342-4350, 2012.

Stargardt disease was diagnosed in 12 patients from 12 families using complete ophthalmologic examination, fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography. DNA was extracted for polymerase chain reaction (PCR) and direct DNA sequencing (ABCA4 gene). Genetic counseling and eye examination were offered to 16 additional family members. Various patterns of presentation were observed in patients with clinical diagnoses of Stargardt disease.

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