Search

Purpose: To report a case of neurosarcoidosis (NS) who was initially diagnosed as Coccidioidomycosis immitis (CI) infection.Observations: A 57-year-old diabetic man presented with sudden painless diminution of vision, metamorphopsia, and color vision deficits in the left eye (OS) for one month. His vision was 20/20 in the right eye (OD) and 20/40 OS. Ophthalmic examination revealed left relative afferent pupillary defect, blurred optic nerve margin, creamy chorioretinal infiltration around the optic disc, and mild macular edema. OD examination was non-revealing. Chest CT scan with contrast showed calcified mediastinal lymph nodes, but biopsy of the lymph nodes was normal. Brain and orbit MRI demonstrated soft tissue abnormality with enhancement in left orbital apex with involvement of the extraocular muscles. CSF culture was negative, but complement fixation had positive titer of 1:2 for CI. The patient was diagnosed with CI meningitis, and antifungal therapy was initiated. Slight visual and symptomatic improvement was observed, which was not completely satisfactory. Biopsy of extraocular orbital muscle five months later revealed non-caseating granulomatous inflammation, leading to initiation of prednisone trial therapy. Nine months later, the patient was referred to a tertiary center owing to persistence of optic disc edema OS. PET CT was consistent with a diagnosis of sarcoidosis. Antifungal treatment was discontinued, and oral prednisone with methotrexate was initiated. Subsequently, methotrexate was replaced by infliximab to further manage ocular inflammation and neurologic symptoms which was effective. Vision was 20/20 OD and 20/30 OS at the most recent visit.Conclusion and Importance: Signs and symptoms of neurosarcoidosis and coccidioidomycosis can be similar and deceiving. The index case underscores importance of considering appropriate differential diagnoses in patients with similar symptoms and signs who may respond to preliminary designated treatment but not to the optimal extent. Considering such possibility could assist clinicians in managing the patients timely and efficiently. [ABSTRACT FROM AUTHOR]

Purpose: To report a novel finding of retinal arterial tortuosity (RAT) associated with Ehlers-Danlos syndromes (EDS)., Methods: We queried the STAnford Research Repository (STARR) database to identify patients diagnosed with EDS. We included patients with a confirmed diagnosis of any subtype of EDS who had any form of readable retinal imaging including colour fundus photos, autofluorescence, red-free photos, red-free optical coherence tomography photos and fluorescein angiography. Patients who had no retinal imaging and those with no confirmed EDS diagnosis were excluded. Retinal images were reviewed for RAT and were graded into no, possible and definite RAT. Eyes with definite RAT were further graded into mild, moderate and severe. Eyes with definite RAT were again subclassified according to the type of involved vessels into first-order arteriolar, macular and arteriovenous., Results: A total of 307 patients were identified using the STARR tool and 142 patients were included. Mean age was 40.9 ± 18.1 years and 87% were female. Underlying EDS subtypes were hypermobile EDS (69.7%), classical EDS (2.8%), vascular EDS (2.1%), myopathic EDS (0.7%) and not specified (24.6%). We graded 37.3% of patients with definite RAT, 10.6% with possible RAT and 52.1% with no RAT. In patients with definite RAT, we graded 39.2% of eyes with mild RAT, 40.2% with moderate RAT and 20.6% with severe RAT. In all, 84.9% showed involvement of first-order retinal arterioles, 35.8% showed involvement of macular arterioles and 1.9% showed arteriovenous involvement., Conclusions: Variable degrees of RAT are associated with EDS., (© 2022. The Author(s).)

Purpose: To report different biometric measurements in high myopia associated with different underlying ocular and genetic conditions., Design: Retrospective study., Subjects: Patients with high myopia., Methods: We searched the Stanford Research Repository tool to identify patients with the diagnosis of high myopia who were seen by a single provider at Byers Eye Institute at Stanford from January 2019 to March 2022. We performed a chart review and included eyes that had high myopia and ocular biometric measurements at any time point after January 2019. We divided our cohort into 5 different groups: (1) isolated high myopia (IHM) (control group); (2) retinopathy of prematurity (ROP); (3) familial exudative vitreoretinopathy; (4) Marfan syndrome; and (5) Stickler syndrome., Main Outcome Measures: Biometric measurements., Results: A total of 246 patients (432 eyes) were included as follows: 202 patients (359 eyes) in the IHM group, 17 patients (27 eyes) in the ROP group, 7 patients (12 eyes) in the familial exudative vitreoretinopathy group, 8 patients (14 eyes) in the Marfan group, and 12 patients (20 eyes) in the Stickler group. The ROP group showed significantly shorter axial lengths, shallower anterior chambers, and thicker lenses compared with the IHM group. The Marfan group showed significantly flatter corneas and thicker lenses compared with the IHM group. The Stickler group showed significantly longer axial lengths compared with the IHM group., Conclusions: High myopia is associated with variable biometric measurements according to underlying ocular or genetic conditions. Retinopathy of prematurity-associated high myopia is primarily lenticular, while Stickler syndrome-associated high myopia is axial. Marfan syndrome-associated high myopia is derived from both axial and lenticular mechanisms., (© 2022 Published by Elsevier Inc. on behalf of American Academy of Ophthalmology.)