The research was approved by institutional review boards at the University of Illinois at Chicago and the Western IRB. The tenets of the Declaration of Helsinki were followed, and all subjects provided written informed consent prior to participating. Four subjects (three males and one female; ages 27–35 years) with molecularly confirmed AR
PROM1 dystrophy were recruited from the cohort of the Pangere Center for Inherited Retinal Diseases at the Chicago Lighthouse. Two subjects were brothers, whereas the other subjects were unrelated. The clinical characteristics of these four individuals are detailed in a previous report.
13 The
Table lists the sex, age, visual acuity, and molecular variants for the
PROM1 dystrophy subjects. Optical coherence tomography (OCT) b-scans and corresponding scanning laser ophthalmoscopy (SLO) images that demonstrate the location of each b-scan (vertical green line) are shown in
Figure 1. These images are presented to provide an overview of the extent of structural abnormalities within the macula for each of the
PROM1 dystrophy subjects. Of note, the OCT images for
PROM1 subjects 1 and 4 were obtained on the date that the ERG and pupil measures were obtained, whereas the images for
PROM1 subjects 2 and 3 were obtained 3 years and 1 year prior to the present study, respectively. Each of the four
PROM1 dystrophy subjects had marked structural abnormalities.
PROM1 subject 1 had inner segment ellipsoid (ISe) band loss throughout the scan but some preservation of the outer nuclear layer (ONL) at the fovea.
PROM1 subject 2 had loss of the ISe and reduced ONL throughout the scan, as well as thinning of the retinal pigment epithelium at the fovea; an outer-retinal tubulation was apparent parafoveally.
PROM1 subjects 3 and 4 generally lacked the ISe, except at the fovea, where it appeared thin and hyporeflective; there was some preservation of the ONL throughout the scan.