case_images: PMC11788680_01
case_images: (Representative images of ADAMTS18-related ocular changes in this patient): (A) Photograph OD demonstrating a small corneal diameter; (B) Optos ultra-widefield  images with demonstration of inferior retinal staphylomas, macula-sparing atrophy around the disc, and rare peripheral bone spicules seen nasally; (C) Optical coherence tomography showing thickened fovea OD and epiretinal membrane OU; (D) Ultrasound biomicroscopy OD with an equatorial lens diameter of 6.84mm, lens thickness of 3.55mm, and increased posterior lens curvature; (E) Fundus autofluorescence OU showing dense nasal hypoautofluorescence nasal to the disc with mild hypoautofluorescence inferior to the inferotemporal arcade in an arcuate shape, as well as some hyperautofluorescence in the macula; (F) Intravenous fluorescein angiography (IVFA) OU with window defects outside of the temporal arcades and unremarkable maculas in areas noted to be hypoautofluorescent by fundus autofluorescence.
case_images: gr1.jpg
case_images: PMC11788680_01_gr1.jpg
case_images: fig1
case_images: Slit lamp biomicroscopy revealed small corneas and shallow anterior chambers bilaterally (Fig. 1A). On fundus examination, the patient was found to have bilateral posterior vitreous detachments, inferior retinal staphylomatous changes and atrophy around the discs with sparing of the maculas, as well as rare peripheral bone spicules noted nasally (Fig. 1B). Optical coherence tomography (OCT) (Spectralis, Heidelberg Engineering, Hertfordshire, United Kingdom) showed an epiretinal membrane OU, mild posterior bowing of Bruch's membrane OU and foveal thicknesses of 417 mum OD and 292 mum OS (Fig. 1C). Ultrasound biomicroscopy was additionally significant for a very small equatorial lens diameter (OD 6.84, OS 7.48mm) with a normal lens thickness (OD 3.55, OS 3.56mm) and an accentuated posterior lens curvature OU (Fig. 1D). Fundus autofluorescence showed dense areas of hypoautofluorescence nasal to the disc OU with mild hypoautofluorescence in an arcuate fashion just inferior to the inferotemporal arcade and some hyperautofluorescence in the macula (Fig. 1E). Intravenous fluorescein angiography (IVFA) demonstrated transmitted fluorescence outside of the temporal arcades but the maculas were unremarkable in the areas that were noted to be hypoautofluorescent by fundus autofluorescence. (Fig. 1F). IOP was 21 mmHg OU (Fig. 1).