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A 31-year-old healthy White man experienced painless sequential vision loss. Brain imaging and laboratory investigations for infectious, inflammatory, and nutritional conditions, in addition to targeted genetic testing for Leber hereditary optic neuropathy (LHON), were all normal or negative. Despite systemic corticosteroid therapy and plasma exchange, vision continued to worsen. Eventually, mitochondrial whole-genome sequencing was performed, which demonstrated a mutation at the 13513G>A position confirming the diagnosis of LHON. The three primary mutations (11778G>A, 14484T>C, and 3460G>A) account for 90% of LHON cases; therefore, it is important to consider whole-genome mitochondrial sequencing in cases with a high index of clinical suspicion and negative primary mutation screening testing.

The proliferation of targeted anticancer agents over the last two decades has revolutionized cancer treatment and improved survival in many previously refractory malignancies. However, many agents are associated with characteristic ophthalmic adverse effects. It is important that ophthalmologists recognize and maintain a high index of suspicion for these side effects in patients on targeted therapy. Most ophthalmic adverse effects can be treated with specific ocular therapy without discontinuation of cancer treatment, although it is important to be aware of the life-threatening and vision-threatening circumstances that would require therapy cessation in conjunction with the patient's oncologist. This review aims to summarize the ophthalmic adverse effects of targeted and hormonal anticancer agents and briefly describe their management.

To examine the impact of physician face mask use on the rates and outcomes of postinjection endophthalmitis.A multicenter retrospective, comparative cohort study comparing endophthalmitis rate and visual acuity of eyes that developed endophthalmitis after antivascular endothelial growth factor injections at Mayo Clinic Rochester (MCR) and at Mayo Clinic Health System sites depending on physician masking.A total of 164,824 injections were performed at MCR and Mayo Clinic Health System sites. Of these, 66,098 injections were in the no mask group and 98,726 injections were in the mask group. Overall, there were no differences in the rates of infectious endophthalmitis in the no mask versus mask cohorts (overall: no mask: 20 cases [0.0303%] vs. mask: 41 cases (0.0415%); P = 0.24; infectious: no mask: 12 cases [0.018%] versus mask: 13 cases [0.0132%]; P = 0.42). At MCR alone, there was a significant reduction in infectious endophthalmitis between the no mask versus mask groups (no mask: 9 cases [0.0297%] versus mask: 2 cases [0.003%]; P0.001). Only 2 cases of infectious endophthalmitis occurred at MCR after the face mask policy was implemented (1 in 30,000 injections). At presentation and at 6 months, the average visual acuity was similar for patients who developed endophthalmitis between the no mask versus mask groups.Physician face mask use did not affect the rate or outcome of postinjection endophthalmitis. However, there was a significant reduction at MCR after masking along with other quality improvement measures, including performance of injections in a dedicated procedure room and preparation of patients by nurses, that led to a low rate of endophthalmitis.

Purpose: To investigate ophthalmic side effects of taxanes and compare side effect frequency, requirement for cessation of taxane therapy, visual acuity outcome, and concurrent systemic effects between paclitaxel and docetaxel. Methods: Patients taking taxanes at a single center from 1/1/2010 to 2/29/2020 were retrospectively reviewed for clinical characteristics, treatments, and concurrent systemic adverse effects. Results: Of 1918 patients, 22 (1.1%) experienced an ophthalmic side effect that came to the attention of an eye care provider. Mean age at presentation of the side effect was 62 years (median 66, range 23–82). The most common side effect was meibomian gland dysfunction in 5 (23%) patients, followed by cystoid macular edema in 4 (18%) patients and canalicular obstruction in 4 (18%) patients, followed by diplopia in 2 (9%) patients, and singular cases of lash alopecia, and blepharitis, among others. Lids/lashes as well as nasolacrimal duct adverse effects occurred more frequently with docetaxel therapy than with paclitaxel therapy. Follow-up was available in 10 (45%) patients, with mean duration of 5 months (median 4, range 0–12 months). Of these patients, the ophthalmic side effects were resolved or controlled without discontinuing therapy in 8 (80%) patients. Taxane cessation was required in one patient with docetaxel-related canalicular obstruction and one patient with paclitaxel-related cystoid macular edema. Conclusion: Ophthalmic taxane-related adverse events are rare with estimated frequency of ophthalmic side effects of about 1%. Nevertheless, it is important that ophthalmologists recognize the range of side effects for optimal management. Most ophthalmic events can be treated with targeted therapy without discontinuation of life-prolonging taxane therapy.

The proliferation of targeted anticancer agents over the last two decades has revolutionized cancer treatment and improved survival in many previously refractory malignancies. However, many agents are associated with characteristic ophthalmic adverse effects. It is important that ophthalmologists recognize and maintain a high index of suspicion for these side effects in patients on targeted therapy. Most ophthalmic adverse effects can be treated with specific ocular therapy without discontinuation of cancer treatment, although it is important to be aware of the life-threatening and vision-threatening circumstances that would require therapy cessation in conjunction with the patient's oncologist. This review aims to summarize the ophthalmic adverse effects of targeted and hormonal anticancer agents and briefly describe their management.

Background/AimsTo investigate immune-related ophthalmic side effects of systemic checkpoint inhibitors and compare side effect frequency and requirement for cessation of immunotherapy by checkpoint target.MethodsPatients taking immune checkpoint inhibitors at a single centre from January 1, 2010 to February 29, 2020 were retrospectively reviewed for clinical characteristics, treatments and concurrent systemic adverse effects.ResultsOf 996 patients, 28 (2.8%) experienced an ophthalmic side effect that came to the attention of an eye care provider. Mean age at presentation of the side effect was 63 years (median 64, range 25–88). The checkpoint inhibitor most often preceding side effects was pembrolizumab in 12 (43%). The most common side effect was dry eye in 16 (57%), followed by uveitis in 4 (14%) patients, and singular cases of ptosis and binocular diplopia, among others. Ocular surface adverse effects occurred more frequently with programmed death ligand-1 (PD-L1) targeting therapy. There were no significant differences in the frequency of orbit/ocular adnexa and uveitis or retinal side effects based on checkpoint targets. Follow-up was available in 13 (46%) patients, with mean duration of 20 months (median 16, range 2–52 months). Of these patients, the ophthalmic side effects were controlled without discontinuing therapy in 12 (92%). Checkpoint inhibitor cessation was required in one patient with panuveitis.ConclusionOphthalmic immune-related adverse events are rare but could be more common than previously estimated. PD-L1-directed checkpoint inhibitors may have a slight predilection for ocular surface adverse effects. Most ophthalmic events can be treated with targeted therapy without discontinuation of life-prolonging immunotherapy.

Purpose To present a successful case of single-staged total upper eyelid reconstruction after sebaceous gland carcinoma excision by using forehead galeal pericranial flap. Observations An 80-year-old female with a progressively enlarged left upper eyelid mass presented with ocular irritation, blurred vision, and gritty sensation despite topical antibiotics treatment. This multinodular mass involved the left total upper eyelid, compromised corneal surface integrity, and caused complete ptosis. Excisional biopsy confirmed advanced sebaceous gland carcinoma, which was followed by extensive excision. The resultant total upper eyelid defect was reconstructed by a forehead galeal pericranial flap accompanied by anterior and posterior lamellar grafts. For the 34-month follow-up period, patient remained symptom-free without tumor recurrence and achieved acceptable cosmetic outcome. Conclusion The forehead galeal pericranial flap appears to be effective as single-staged total upper lid reconstruction following extensive sebaceous gland carcinoma excision to restore eyelid function, avoid corneal exposure, and achieve acceptable cosmesis.

Purpose We report two cases of Wyburn-Mason syndrome that illustrate the spectrum of peripheral retinal ischemia seen in this condition. Observations A 12-year-old female presented with a retinal arteriovenous malformation and sclerotic vessels associated with retinal ischemia on fluorescein angiography, as well as an ipsilateral ophthalmic arteriovenous malformation on magnetic resonance imaging. An 11-year-old male presented with retinal vascular engorgement and tortuosity along with a central retinal vein occlusion and secondary neovascularization. Conclusions and Importance Retinal ischemia in Wyburn-Mason syndrome is heterogeneous and may be progressive, with secondary complications that result in neovascularization. Furthermore, it is necessary to recognize that this is a systemic condition that requires neurological evaluation.