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M. A. Genead, G. A. Fishman, M. Lindeman; Differences in Spectral-Domain Optical Coherence Tomography (SD-OCT) and Fundus Autofluorescence Characteristics of Fundus Lesions in Patients With Fundus Albipunctatus and Retinitis Punctata Albescens. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1391.
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To identify the location of the fundus white spots in fundus albipunctatus (FAP) and retinitis punctata albescens (RPA) patients by using SD-OCT technology and to determine any autofluorescent properties of these fundus white spots.
Three patients with a diagnosis of FAP and one with a diagnosis of RPA at the University of Illinois at Chicago were enrolled in the study. These patients were included based on their prior diagnosis of FAP or RPA, which was determined by their clinical fundus appearance, full-field electroretinogram (ERG) changes, and genetic molecular mutations. All subjects underwent a complete ocular examination, including best-corrected visual acuity using an early treatment diabetic retinopathy screening chart (ETDRS), slit-lamp biomicroscopy examination, and dilated fundus examination by direct and indirect ophthalmoscopy. SD-OCT and fundus autofluorescence (FAF) examinations were performed with the Spectralis HRA+OCT.
Our 4 patients included 3 females and 1 male. Mean age 26.3±14.5 years. SD-OCT exam in the FAP patients showed the presence of numerous well-demarcated homogenous dome-shaped lesions originating from the retinal pigment epithelial (RPE) layer. They extend from the RPE level into the inner/outer segment junction (IS/OS) of the photoreceptors, external limiting membrane (ELM), and into the outer nuclear layer (ONL). The RPE cell lesions were present ≥10° extrafoveally with no evidence of any lesions at the subfoveal zone in either eye. In contrast, the SD-OCT exam in the RPA patient showed the presence of numerous rounded to oval-shaped (broad-based) lesions which appeared to originate from the RPE with extension up to and elevating the overlying IS/OS junction of the photoreceptors. FAF exam in the FAP patients showed numerous foci of enhanced AF lesions which corresponded to the fundus white spots, while in the RPA patient, FAF testing showed that the fundus white lesions demonstrated an enhanced AF in addition to a ring of parafoveal enhanced AF.
Structural differences on SD-OCT and autofluorescence measurements were observed in patients with FAP and RPA. In early stages of disease, these structural differences could be useful in determining the best strategy for genetic screening in such patients. SD-OCT testing is likely to be useful for monitoring structural changes during future therapeutic trials for these retinal disorders.
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