Rapid Fire Saturday 19 May 08:00 - 09:32 Salle des Princes
J.E.E. Keunen, C. Boon, F. Cremers, J.B. Klevering, C.B. Hoyng,
NETHERLANDS
Stargardt-like pattern dystrophy
PURPOSE: To evaluate 10 unrelated patients and their families with an autosomal dominant Stargardt-like pattern dystrophy caused by mutations in the peripherin/RDS gene. SETTING: 1. Institute of Ophthalmology, University Medical Center Nijmegen, The Netherlands; 2. Institute of Anthropogenetics, University Medical Center Nijmegen, The Netherlands. METHODS: The probands of 10 families as well as 37 affected family members underwent a complete ophthalmic examination including dilated fundus examination, fundus autofluorescence imaging and optical coherence tomography (OCT). In all probands and in selected family members, fluorescein angiography, electrophysiologic testing and visual field analysis were performed. Blood samples were obtained from affected and unaffected family members for analysis of the peripherin/RDS gene. RESULTS: All probands showed a pattern dystrophy with yellow-white flecks in the posterior pole that strongly resembled the flecks seen in Stargardt’s disease, on ophthalmoscopy as well as on autofluorescence and OCT. In four patients these flecks became confluent and atrophic. Two patients showed an evolution towards extensive atrophy of the posterior pole. Normal choroidal background fluorescence was found in all patients. Results from electrophysiologic testing and from visual field analysis varied greatly. Nine different mutations in peripherin/RDS were identified of which three were published previously. Clinical findings in the family members carrying the same mutation as the proband were variable. Striking intra- and interfamilial differences were found. CONCLUSIONS: Stargardt’s disease without detectable ABCA4 mutations may actually represent an autosomal dominant pseudo-Stargardt pattern dystrophy caused by mutations in the peripherin/RDS gene. Although the mode of inheritance of the multifocal pattern dystrophy is autosomal dominant and therefore different from autosomal recessive Stargardt’s disease, the incomplete penetrance and high clinical variability may mask the inheritance pattern. As a result Stargardt-like pattern dystrophy might be easily confused with Stargardt’s disease. The overall visual prognosis in the mutifocal Stargardt-like pattern dystrophy seems better compared to Stargardt’s disease.
