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J.J. O'Neill, G.J. McKay, D.A. Simpson, G. Silvestri; Fundus Autofluorescence as a Predictive Tool for Patterns of Inheritance in Retinal Dystrophies . Invest. Ophthalmol. Vis. Sci. 2005;46(13):536.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: Fundus autofluorescence (AF) provides information on the metabolic activity of the RPE and hyperfluorescence highlights areas of lipofusin accumulation. A ring of hyperfluorescence in the parafoveal area has been shown to be a useful measure of preserved retinal function in patients with retinitis pigmentosa (RP). The aim of this study is to investigate if any correlation exists between mode of inheritance and autofluorescence pattern in patients with RP. Methods:Twenty patients with a clinical diagnosis of RP, confirmed with the International Society for Clinical Electrophysiology of Vision standard (ISCEV) were selected from the Northern Ireland Retinitis Pigmentosa Database, 10 with autosomal dominant (AD) and 10 with autosomal recessive (AR) disease, inheritance pattern determined by family pedigree. Each participant was assessed using LogMar distance acuity charts and Bailie–Lovie near acuity word charts, contrast sensitivity with Peli–Robson charts at 1 meter. Colour vision was tested using Farnsworth Dichotomous test for colour blindness series D15 and visual fields were tested using Humphreys 24–2. The fundus was imaged digitally using the Topcon TRC 50EX camera and AF images were acquired using the Heidelberg confocal scanning laser ophthalmoscope 1. Results: The participants were aged between 15 and 70 years and corrected visual acuity in both eyes ranged between <1.6 and 0.1 LogMar. A parafoveal area of high density AF was found in 100% of AR patients and 90% of the AD patients. Although the parafoveal ring was present in most patients with either dominant or recessive disease, several patients also showed an unusual distribution of both hypo and hyperfluorescence. This was independent of inheritance pattern. As expected there was a general decrease in the level of AF in accordance with visual acuity and central visual field deterioration. Conclusions: Patients in both groups showed similar parafoveal areas of high density AF, and we therefore conclude that the parafoveal ring does not correlate with any specific inheritance pattern in this disease. However our data show that several patients had an unusual pattern of AF in the posterior pole. We plan to correlate these unusual AF patterns with specific mutations in the future.
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