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Viscogliosi F., Simonelli S., Testa F.
Dipartimento di Oftalmologia Seconda Università degli Studi di Napoli, Napoli
This study describes the clinical features of a patient with suspect late onset of Stargardt disease (STGD) with a diagnosis that differentiates it from the atrophic form of senile macular degeneration (SMD) and the cone-rod dystrophy. The patient underwent a complete ophthalmologic evaluation including ocular anamnesis, best-corrected visual acuity, fundus oculi examination, fundus photography, electro-retinography (ERG), fluorescein angiography, optical computed tomography and genetic consult. The onset symptoms were night blindness and visual acuity defect in both eyes when he was 36. The fundus oculi alterations were chorioretinal atrophy in the macular region (right eye) and soft retinal pigment epithelium alterations in the macular region (left eye); while ERG was normal. Symptoms and results of the instrumental tests were typical of STGD. The main difficulty of the case was evaluating two different diagnosis and choosing between SMD and cone-rod dystrophy, as these pathologies share many clinical features. The final diagnosis was in favour of STGD, in fact SMD arises usually over 50 years of age and the results of the molecular genetic analysis have shown two heterozygotic mutations in the patient (exon 3, exon 42) that allowed to confirm diagnosis of STGD. Cone-rod dystrophy was excluded because in this pathology the ERG is altered in different ways, while the patient had a normal ERG. In conclusion, genetic analysis and ERG alterations are essential factors for STGD diagnosis, also in patients with late onset symptoms.