{Reference Type}: Case Reports
{Title}: Utility of en-face imaging in diagnosis of occult macular dystrophy with RP1L1 mutation: A case series.
{Author}: Ruan MZ;Hussnain SA;Thomas A;Mansukhani M;Tsang S;Yannuzzi L;
{Journal}: Am J Ophthalmol Case Rep
{Volume}: 15
{Issue}: 0
{Year}: Sep 2019
暂无{DOI}: 10.1016/j.ajoc.2019.100465
{Abstract}: UNASSIGNED: To report en-face 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.
UNASSIGNED: 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 en-face imaging at the EZ plane.
UNASSIGNED: This is a report of two patients with EZ en-face imaging that aided in the diagnosis of OMD where other structural imaging was largely unremarkable. The en-face imaging modality can also be used to monitor OMD progression.