Article
Occult Macular Dystrophy: a case report and major review.
Ophthalmic genetics - 1 Oct 2022
Luoma-Overstreet Gracia, Jewell Ann, Brar Vikram, Couser Natario
Abstract excerpt
BACKGROUND: Occult Macular Dystrophy (OMD), a rare autosomal dominant disorder caused by mutations in the retinitis pigmentosa 1-like protein 1 gene (RP1L1), is characterized by loss of central visual acuity in the absence of fundoscopic abnormalities. In patients suspected of having OMD based on unexplained central vision loss and/or photophobia, changes may be detected with spectral-domain optical coherence...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.