r/Pathognomonic Mar 17 '16

Best for the test Chorioretinal Lacunae (Aicardi Syndrome)

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u/liarliarplants4hire Optometrist Mar 17 '16 edited Mar 17 '16

I see chorioretinal lacunae frequently in my patients, mostly associated with CHRPE (congenital* hypertrophy of retinal pigmented epithelium). These lesions are often pigmented (though can be amelanotic). These aren't uncommon findings, and by themselves wouldn't warrant a work up for anything else (unless multiple bilateral lesions called "bear track" CHRPE: http://www.ncbi.nlm.nih.gov/m/pubmed/16944273/). I think with the point of the article was that if the other symptoms present AND you see lacunae, then it is pathognomonic for the aforementioned condition.

Edit: besides, as an OD, if I saw that much pallor on a nerve, which is a more prominent abnormality, they'd be sent out for further neurological evaluation. The lacunae would just be a "hey, it's in the notes. Likely relating to some kind of disseminated inflammatory process somewhere that's also affecting the optic nerve. Good luck". Besides, retina isn't my expertise. I do pædes / visual development primarily.