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Martin Gliem, Johannes Birtel, Philipp L. Mueller, Frank G. Holz, Peter Charbel Issa; Quantitative fundus autofluorescence in macular and cone/cone-rod dystrophies. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1333.
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To quantitatively investigate lipofuscin-associated fundus autofluorescence in patients with macular and cone/cone-rod dystrophies (MD/CCRD).
231 patients with MD/CCRD (aged 10-64 years) which had undergone genetic testing using a two-tier strategy consisting of Sanger-sequencing and next-generation sequencing were included in this prospective, monocenter, case-control study. Patients were examined using quantitative fundus AF (qAF) imaging with a modified confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference (modified Spectralis HRA-OCT, Heidelberg Engineering). Mean qAF values of a circular ring centered to the fovea were measured and compared to 110 controls (aged 8-65) without any eye disease
Genetic testing revealed causative mutations distributed across 22 different genes in 176 patients (76%). QAF-values were increased in 105 (45%), normal in 111 (48%) and reduced in 15 (7%) patients. Increased qAF-values were associated with mutations in ABCA4 (n=75; 71%), PRPH2 (n=9; 9%), CERKL (n=3; 3%), PROM1 (n=2; 2%), CRX (n=1; 1%) and CDHR1 (n=1; 1%). Reduced qAF-values were mainly found in patients with MERTK (n=3; 20%) and RDH5 (n=2; 13%) mutations. Normal qAF values were found associated with mutations in all genes except for MERTK and RDH5. In 14 patients with increased (13%), 35 with normal (32%) and 6 with reduced (40%) qAF values no causative mutation could be identified.
QAF imaging revealed characteristic qAF-levels in association with certain gene mutations but also in cases without detected causative mutations. These findings indicate that qAF may facilitate differential diagnostics of MD/CCRD and offer novel insights into the pathogenesis of MD/CCRD which might be of particular value for the assessment of future treatment options.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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