Journal
OPHTHALMIC GENETICS
Volume 41, Issue 5, Pages 465-469Publisher
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810.2020.1790616
Keywords
Pseudoxanthoma elasticum; angioid streaks; usher Syndrome; occam's Razor; Hickam's Dictum
Categories
Ask authors/readers for more resources
Background To report the case of a patient with two distinct genetic systemic diseases - pseudoxanthoma elasticum (PXE) and Usher syndrome - confirmed by genetic testing. Materials and Methods Single Retrospective Case Report Results A 36-year-old woman presented with acute central vision loss of the left eye (OS). Fundus exam revealed choroidal neovascularization OS in the setting of angioid streaks secondary to an underlying diagnosis of PXE. Unexpectedly, she also exhibited peripheral bony spicules with significant visual field constriction. Physical exam revealed skin papules on her neck and hearing loss. The presence of angioid streaks and skin findings was compatible with PXE; the etiology of her pigmentary retinopathy and hearing loss was elucidated using genetic testing. The patient was found to be compound heterozygous for pathogenic variants in both theABCC6andUSH2Agenes, confirming the diagnosis of two rare disorders in a single patient. Conclusions PXE and Usher syndrome are rare systemic disorders that cause distinctive retinal abnormalities. This report highlights the importance of genetic testing in diagnosing uncommon hereditary retinal disorders and outlines the progression of disease over 6 years.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available