BULL'S EYE MACULOPATHY WITH MUTATIONS IN RDS/PRPH2 AND ROM-1.

Autor:	Essilfie JO; Stein Eye Institute, University of California Los Angeles Geffen School of Medicine, Los Angeles, California., Sanfilippo CJ; Division of Retina, Stein Eye Institute, University of California Los Angeles Geffen School of Medicine, Los Angeles, California., Sarraf D; Division of Retina, Stein Eye Institute, University of California, Los Angeles, Greater Los Angeles VA Healthcare Center, Los Angeles, California.
Jazyk:	angličtina
Zdroj:	Retinal cases & brief reports [Retin Cases Brief Rep] 2018 Fall; Vol. 12 Suppl 1, pp. S55-S58.
DOI:	10.1097/ICB.0000000000000669
Abstrakt:	Purpose: To report a case of bull's eye maculopathy associated with mutations in RDS/PRPH2 and ROM-1 genes. Methods: We present a case report of a patient with a characteristic maculopathy and describe the multimodal retinal imaging findings including spectral domain optical coherence tomography and fundus autofluorescence and full-field electrophysiology. The results of genetic testing are also reported. Results: A 60-year-old woman presented with decreased vision and a remarkable bull's eye maculopathy with retinal examination. Fundus autofluorescence illustrated a striking pattern of speckled hyperautofluorescence and hypoautofluorescence that highlighted the bull's eye maculopathy in each eye and guided genetic testing, which confirmed a mutation of the RDS/PRPH2 gene and a novel mutation of the ROM-1 gene. Conclusion: Multimodal imaging including fundus autofluorescence may guide genetic testing in patients with a characteristic maculopathy. RDS/PRPH2 genetic mutation can be associated with a bull's eye maculopathy with a signature fundus autofluorescence presentation.
Databáze:	MEDLINE
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