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P. S. Schatz, K. Klemp, N. Christoffersen, B. Sander, N. Datta, M. Preising, M. Larsen, T. Rosenberg; Phenotype and Genotype of Danish and Swedish Patients With Fundus Albipunctatus/Retinitis Punctata Albescens. Invest. Ophthalmol. Vis. Sci. 2008;49(13):6096.
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© ARVO (1962-2015); The Authors (2016-present)
To study the phenotype and genotype of Danish and Swedish patients with fundus albipunctatus/retinitis punctata albescens.
Seven unrelated patients were examined with dark adaptometry, full-field ERG, mfERG, OCT. Diagnosis was confirmed using molecular genetic testing, including mutation screening of RDH5, RBP3 and RLBP1 genes. Further characterization of genotype - phenotype relations will include enhanced OCT, autofluorescence fundus photography and prolonged dark adaptometry.
Striking differences were observed between patients; Dark adaptation thresholds ranged between normal to severely elevated, without any rod adaptation. By full-field ERG, rod function ranged from moderate affection (50% reduction) to no recordable responses. Different degrees of reduction of central responses were seen by mfERG. The R209X mutation was found in RDH5.
The fundus appearance of homogenously scattered white dots covering the paracentral and peripheral retina, probably results from different pathogenetic events and represents widely varying disorders as to type and extent of retinal dysfunction.
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