Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
Fig 1
Clinical features of individuals in this study.
(A-G) NNO1 family member clinical imaging. (A) Ultrasound biomicroscopy showing shallow anterior chamber and narrow angles. (B-C) Optic disc photos of the right (B) and left (C) eye showing crowded discs with vascular tortuosity. (D-E) Wide-field 200-degree Optos autofluorescence images of right (D) and left (E) showing tortuous vasculature and highlighting small area of hyperfluorescence in the left eye below the inferiotemporal arcade. (F-G) SD-OCT images of right (F) and left (G) eye showing choroidal folds in the right eye and otherwise normal foveal structure. (H-J) Sporadic nanophthalmos case clinical images. (H-I) SD-OCT of right (H) and left eye (I) eye showing mild foveal hypoplasia. (J) Bscan ultrasound showing short axial length and reduced posterior segment dimensions (line). Scale bar, 200 μm.