Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant
Posterior segment imaging in an individual with PRSS56-associated nanophthalmos. Fundus photograph of the right (a) and left (b) eye (age 11 years) abnormal optic discs with indistinct margins and no retinal pigmentary changes. Automated visual field testing within the central 50 degrees demonstrating irregular peripheral constriction in the right (c) and in the left (d) eye (age 16.5 years). Spectral domain optical coherence tomography scan of the right (e) and left (f) optic nerve heads (age 15 years), note abnormal elevation. Horizontal scans of the right (g) and left (h) macula, note absence of foveal depression and bilateral small papillomacular folds (arrows), no macular edema and thickened inner retinal and outer plexiform layers (asterisks). Autofluorescence imaging (age 16.5 years) of the right optic disc (i) and macula (j) and of the left optic disc (k) and macula (l); focal hyperfluorescence (arrowheads) suggests drusen, confirmed by B-scan ultrasonography in the right (m) and left (n) eye (arrows).