Utility of imaging in diagnosis of occult macular dystrophy with RP1L1 mutation: A case series.

Purpose: To report imaging findings at the level of ellipsoid zone (EZ) in two cases of occult macular dystrophy (OMD) with retinitis pigmentosa 1-like 1 (RP1L1) p.Arg45Trp mutation.

Observations: In both patients who presented with decreased vision, pupillary examination, intraocular pressure, and anterior examination were normal. Ophthalmoscopic examination showed prominent choroidal marking whereas fundus autofluorescence was unremarkable. Spectral domain optical coherence tomography (SD-OCT) showed subtle gaps between EZ and retinal pigment epithelium (RPE). The photoreceptor disruption became more evident with imaging at the EZ plane.

Conclusions And Importance: This is a report of two patients with EZ imaging that aided in the diagnosis of OMD where other structural imaging was largely unremarkable. The imaging modality can also be used to monitor OMD progression.