Occult Macular Dystrophy: a case report and major review

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 tomography. Subsequently, the diagnosis can be confirmed with genetic analysis.We report a case of an 18-year-old White male whose suspected diagnosis of OMD was confirmed by molecular testing. We conducted an extensive review of the literature of previously reported patients with OMD to date.

Methods: A PubMed search of "RP1L1 and Occult Macular Dystrophy" revealed 34 papers. There were 225 individuals with genetically confirmed, symptomatic OMD; an additional 15 had a confirmed mutation but were asymptomatic and discovered incidentally.

Results: Our patient presented with a 10-year history of unexplained loss of central visual acuity and photophobia. Genetic analysis confirmed the presence of a p.R45W substitution on the RP1L1 gene, the most common pathologic mutation in OMD.

Conclusions: Due to the lack of appreciable fundoscopic changes, correct identification of the disease can be difficult. Incomplete penetrance has been associated with the condition, and the age of onset is highly variable. Much of the research discussing OMD has come from Eastern Asia, but whether this is due to a heightened awareness and screening protocols, or increased incidence is unclear. Additional research and increased awareness globally will help with more timely and accurate diagnoses.