Electrophysiological assessment of fundus albipunctatus

Abstract

AbstractPurpose Fundus Albipunctatus is a congenital, stationary retinal disease with rod system degeneration. The disorder is caused by mutation in the RDH5 gene. It is characterized by impaired night vision and numerous small white‐yellow retinal lesions. Flash ERG reveals severe rod function impairment after usual period of dark‐adaptation, which normalize after prolonged dark adaptation.Methods A case of a 12‐year‐old female presented with symptoms of poor night vision. The patient underwent the visual acuity, colour vision tests (D15), fundus photography, fluorescein angiography, automated static perimetry. The standard dark adapted electroretinogram (30min) and a prolonged dark adaptated ERG (120 min), photopic ERG and multifocal electroretinogram (mfERG) were performed.Results Visual acuity of both eyes was not decreased. In the peripheral visual field a concentric restriction was found. Scotopic ERG rod responses (0.009 and 0.017 cd x s /m2) were significantly reduced and a standard ERG response was borderline. Photopic ERG was normal. In the mfERG P1 densities were slightly reduced in the eccentric rings (R4‐R5).Conclusion The comparison of standard adapted scotopic ERG (30 min) and prolonged dark adapted Scotopic ERG (120 min) is the most useful clinical test in diagnosis and differentation of Fundus Albipunctatus. The mfERG can be helpful in detecting patients suffering from Fundus Albipunctatus with progressive cone dystrophy.