Houghton, Odette M.

Purpose: The aim of this study was to evaluate the frequency of ocular imaging in patients with hereditary hemorrhagic telangiectasia (HHT) at a large academic medical institution, characterize the choroidal vascular changes on indocyanine green angiography and optical coherence tomography, and explore the relationship of these ocular features with HHT genotypes and systemic manifestations. Methods: This is a retrospective review of patients with HHT who were seen in the Mayo Clinic ophthalmology department between 2011 and 2021. Results: Of the 71 patients with HHT identified, 7 patients (10%) had qualifying imaging defined as radial or raster spectral-domain optical coherence tomography scans and/or indocyanine green angiography. Four patients (57%) had enlarged choroidal vessels detected on optical coherence tomography and/or indocyanine green angiography. Three patients (43%) had retinal telangiectasias. Patients with choroidal changes (mean age 67 years) had the endoglin gene mutation, gastrointestinal arteriovenous malformations, and facial and mucocutaneous telangiectasias. By contrast, patients without choroidal changes (mean age 45 years) included the activin A receptor-like kinase 1 gene mutation. Conclusion: Only a small proportion of patients with HHT undergo ophthalmic imaging at the authors’ institution. The presence of choroidal abnormalities is associated with the endoglin gene mutation, older age, corroborating retinal vascular changes, and increased systemic manifestations.

Purpose: To describe a case of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) to enhance early recognition of this often-missed diagnosis. Methods: A case report is presented. Results: A 50-year-old woman with a history of Raynaud phenomenon, memory difficulties, and a family history of strokes was referred for evaluation of a bilateral, small-vessel, occlusive disease refractory to immunosuppressive therapy. An extensive workup for treatable causes was unrevealing. Fifteen months after presentation, brain imaging showed white-matter lesions and dystrophic calcification, which led to the discovery of a pathogenic variant in TREX1 and the diagnosis of RVCL-S. Conclusions: Retina specialists play a critical role in the timely diagnosis of RVCL-S. Although the findings in this condition can mimic those in other common retinal vascular disorders, there are key characteristics that increase the suspicion for RVCL-S. Early recognition might decrease unnecessary therapies and procedures.

Purpose: Erdafitinib is a fibroblast growth factor receptor inhibitor indicated for the treatment of cancer. A case of fibroblast growth factor receptor inhibitor–associated retinopathy that resulted in significant visual symptoms and chronic subretinal abnormalities is reported. Methods: A 73-year-old man with a history of relapsed multiple myeloma was treated with erdafitinib. Soon after his fourth treatment cycle, he developed blurred vision in both eyes. Therapy with erdafitinib was subsequently discontinued. Results: Funduscopic examination and optical coherence tomography of both eyes revealed multifocal subretinal fluid in the macula of both eyes. Eleven weeks after cessation of the erdafitinib, the visual acuity improved but the patient reported bilateral annular scotomas. Evaluation was notable for resolution of the subretinal fluid with the development irregular subfoveal thickening in both eyes. The patient's symptoms improved, but the subfoveal abnormalities were persistent at 14 months follow-up. Conclusion: Erdafitinib may be associated with permanent retinal pigment epithelium toxicity.

An 88-year-old woman with a history of exudative age-related macular degeneration presents with persistent subretinal fluid and enlarging pigment epithelial detachments. What would you do next?

Background Retinal migraine is defined by fully reversible monocular visual phenomena. We present two cases that were complicated by permanent monocular vision deficits. Cases A 57-year-old man with history of retinal migraine experienced persistent monocular vision loss after one stereotypical retinal migraine, progressing to finger-count vision over 4 days. He developed paracentral acute middle maculopathy that progressed to central retinal artery occlusion. A 27-year-old man with history of retinal migraine presented with persistent right eye superotemporal scotoma after a retinal migraine. Relative afferent pupillary defect and superotemporal visual field defect were noted, consistent with ischemic optic neuropathy. Conclusion Retinal migraine can complicate with permanent monocular visual loss, suggesting potential migrainous infarction of the retina or optic nerve. A thorough cerebrovascular evaluation must be completed, which was unrevealing in our cases. Acute and preventive migraine therapy may be considered in retinal migraine patients, to mitigate rare but potentially permanent visual loss.

Cutaneous melanoma metastases can contribute to visual disturbances through a variety of factors, including metastasis to the vitreal fluid. The optimum management of metastatic cutaneous melanoma to the vitreal fluid is unknown, but can include radiation therapy or systemic therapy including immunotherapy. A high degree of suspicion is necessary to consider this complication while working with patients with cutaneous melanoma.