Optic Disc Edema Is an Under-Recognized Feature of Birdshot Chorioretinitis.

BACKGROUND: Optic disc edema is a feature of many ophthalmic and neurologic conditions. It remains an underappreciated feature of birdshot chorioretinitis (BSCR), leading to delay in diagnosis and treatment. The purpose of our study was to identify clinical features that are concomitant with optic disc edema and suggest a diagnosis of BSCR. METHODS: Retrospective multicenter case series of 29 patients who were referred to a neuro-ophthalmologist or uveitis specialist for evaluation of disc edema and were ultimately diagnosed with BSCR. RESULTS: Fifty-four eyes of 30 patients, from the practices of 15 uveitis specialists, met the eligibility criteria. In addition to disc edema, concomitant features in all patients included vitritis, chorioretinal lesions, and retinal vasculitis. Visual recovery to 20/40 or better occurred in 26 of 29 patients. Visual acuity remained 20/100 or worse in 2 patients previously diagnosed with idiopathic intracranial hypertension, 1 patient previously diagnosed with optic neuritis, and 1 patient for whom treatment was delayed for years, leading to optic disc atrophy. CONCLUSIONS: Optic disc edema is a presenting feature in some cases of BSCR. A diagnosis of BSCR should be considered when disc edema occurs with vitritis, chorioretinal inflammation, and retinal vasculitis. Patients should be referred to a uveitis specialist for treatment.

Instances of ocular findings in transgender patients undergoing hormonal therapy.

Purpose: To describe the ophthalmological manifestations in transgender patients on gender-affirming hormone therapy. Methods: A retrospective chart review study was conducted. Female-to-male (FTM) and male-to-female (MTF) transgenders on gender-affirming hormone therapy evaluated at a single center were included. Candidates were collected using a phrase-identifying search tool within the electronic medical record system. Descriptive analyses were conducted to report the demographics, hormonal therapies, clinical findings, and visual outcomes. Results: A total of 17 patients were included, seven were FTM, and ten were MTF transgenders. The median age was 26.0 years (range; 20.0-30.0) in the FTM group and 35.0 years (range; 23.0-67.0) in the MTF group. Testosterone therapy in FTM patients comprised 30-60 mg of intramuscular injections weekly or 50 mg of transdermal gel daily. MTF patients used mainly 2-4 mg of estradiol and 100-300 mg of spironolactone tablets daily. A total of 27 eyes were affected, 12 in FTM and 15 in MTF patients. The median visual acuity was 20/25 in FTM (range; 20/20-20/60) and 20/25 in MTF (range; 20/20-20/400). The most common diagnoses in FTM patients were neurologic (71.4 %), particularly idiopathic intracranial hypertension, while MTF transgenders presented mainly with chorioretinal diseases (40.0 %). Compliance with medical recommendations and follow-up appointments was seen in 71.4 % of FTM and 50.0 % of MTF patients. At the last visit, the median visual acuity was 20/50 (range; 20/20-20/70) in FTM and 20/25 (range; 20/20-20/70) in MTF patients. Conclusions and importance: Transgenders presented a variety of ocular findings. A cause-and-effect association cannot be stated, yet eye specialists must be cognizant of these findings to provide appropriate treatment.

Bilateral Acute Retinal Necrosis Treated With Antivirals and Corticosteroids.

We report on the case of a Hispanic male with bilateral acute retinal necrosis (BARN), whose disease was managed with intravenous acyclovir, topical prednisolone, topical atropine, intravitreal ganciclovir, oral valacyclovir, and oral prednisone. The oral corticosteroid was added to his treatment regimen eight days after his initial presentation. The 55-year-old patient presented with a two-week history of bilateral blurred vision. His medical history was pertinent for remote varicella and herpes zoster (the latter limited to the forehead). His best-corrected visual acuity (BCVA) was counting fingers in both eyes (OU). His examination was remarkable in OU for grade 3+ cells, pharmacologically dilated pupils, and grade 2+ vitreous cells. The patient's fundus was remarkable in OU for optic-nerve swelling, vitreous condensation, ghost vessels, and retinitis patches. Given the clinical and ancillary testing results, an assessment of BARN was made. The patient received acyclovir treatment initially, and systemic steroids were introduced eight days later. He ultimately experienced significant clinical improvement.

Consequences of Purtscher-Like Retinopathy in a Patient With Systemic Lupus Erythematosus: A Case Report.

We report on a case of Purtscher-like retinopathy (PLR) secondary to systemic lupus erythematosus, which caused retinal ischemia, retinal neovascularization, vitreous hemorrhage, and, ultimately, a combined tractional and rhegmatogenous retinal detachment. A 23-year-old male presented with decreased visual acuity in the left eye (OS). He had a recent history of systemic lupus erythematosus and was being treated with systemic corticosteroids. At presentation, his visual acuity was counting fingers in the OS; a fundus examination of the OS revealed the presence of macular edema associated with flame hemorrhages, diffuse cotton-wool spots surrounding the macula, and vascular sheathing with the retina attached, all of which were consistent with PLR. Five months later, his fundus examination (OS) showed severe retinal ischemia and active neovascularization. The patient was scheduled for pan-retinal photocoagulation (PRP) laser therapy, but he was lost to follow-up. Subsequently, he returned two months later with progressive damage and was treated with PRP in the OS. An additional two months after PRP treatment, an examination revealed combined tractional and rhegmatogenous retinal detachment. Ultimately, the patient required a pars plana vitrectomy.

Bilateral Acute Iris Transillumination Syndrome Following Oral Moxifloxacin Overdose.

We report a case of bilateral acute iris transillumination (BAIT) syndrome caused by an overdose of oral moxifloxacin in a Hispanic female patient with no previous respiratory viral infection. A 56-year-old Hispanic female with no history of ocular illness was referred to our glaucoma service to manage her microcystic edema, swelling, and refractory ocular hypertension. Her ocular and systemic symptoms, including progressively worsening bilateral ocular pain, severe photophobia, blurred vision, nausea, and vomiting, started 14 days after an accidental overdose of oral moxifloxacin. Moxifloxacin had been prescribed to treat a complicated urinary tract infection. A slit-lamp examination revealed bilateral microcystic corneal edema and transillumination in the right temporal iris, both consistent with a diagnosis of BAIT syndrome. The existing literature on BAIT syndrome is scarce, and its etiology remains unclear. This case provides clinical evidence supporting moxifloxacin toxicity as a possible cause of BAIT syndrome. We emphasize the importance of conducting extensive research to define the mechanisms involved in moxifloxacin-induced BAIT syndrome and to search for other potential etiologies of this condition.

Histocompatibility Leukocyte Antigen-A29-Associated Retinal Vasculitis without Choroidal Lesions: A Report of 4 Cases.

This study describes a cohort of patients presenting with histocompatibility leukocyte antigen (HLA)-A29-associated retinal vasculitis without choroidal lesions that may share clinical features with birdshot retinochoroiditis. The methods include a retrospective chart review of patients presenting with HLA-A29-associated retinal vasculitis without choroidal lesions. The data on the patients were entered retrospectively into a new database and analyzed. Four patients who had HLA-A29-associated retinal vasculitis without choroidal lesions were identified. The median age at presentation was 40 years (range: 14-71); 75% were female. At presentation, all four patients had a visual acuity of 20/50 or better in both eyes. All the eyes had mild vitritis, three eyes (37.5%) had cystoid macular edema, and two eyes (25%) had optic disc edema. All the patients required treatment with systemic steroids and immunosuppressive therapy. HLA-A29-associated retinal vasculitis without choroidal lesions appears to share many clinical features with birdshot chorioretinitis, including the need for systemic immunosuppressive therapy. Whether this entity represents an early form of birdshot retinochoroiditis or a more localized variant of the disease is a topic for additional studies.

Managing a Pigmented Corneal Ulcer in a 58-Year-Old Patient.

We report on a case study involving a 58-year-old male with a pigmented corneal ulcer. The patient presented with a two-month history of an unresolved corneal ulcer in the oculus sinister (OS), accompanied by increasing ocular discomfort. His best corrected visual acuity (BCVA) was 20/20 oculus dexter and hand motion OS. Examination of OS revealed mild conjunctival injection, diffuse corneal edema, and the presence of a central pigmented lesion. Microbiological analysis via culture identified the causative agent as Ochroconis fungi, belonging to the dematiaceous species. Subsequently, the patient's condition was managed through a comprehensive regimen that included multiple topical antifungal agents, a topical antibiotic, and povidone-iodine drops. After two months of treatment, the patient exhibited improvement in his condition. His BCVA improved to counting fingers at a distance of two feet OS.

West Indian (Caribbean) Punctate Keratopathy in a Puerto Rican Girl.

We report on a case of West Indian (Caribbean) punctate keratopathy (WIPK) in a pediatric patient living in Puerto Rico, USA. A 9-year-old Hispanic girl presented for a routine ophthalmic follow-up. The patient had a history of juvenile idiopathic arthritis and chronic bilateral anterior uveitis. At the presentation, her visual acuity was 20/30 in the right eye and 20/20 in the left eye. An examination of the right eye was remarkable for one round, white subepithelial corneal opacity of approximately 0.1 mm in height by 0.1 mm in width, located slightly lateral to the center of the cornea, which was consistent with WIPK. This case highlights the importance of recognizing WIPK in children who have a history of living on any one or more of the Caribbean islands.

Xanthogranuloma of the Eyelid: A Case Report.

We report on the case of a Hispanic woman with necrobiotic xanthogranuloma (NBX) whose disease was managed based on her symptoms. She underwent a diagnostic and debulking surgical intervention and surveillance for hematologic malignancy. This 56-year-old patient presented with a six-year history of enlarging masses and swelling around her eyes, with intermittent inflammation, associated pain, and occasional redness. Her past medical history was remarkable for asthma and nasal polyps. Upon external examination, she had severe fullness of the upper lids with yellow plaques and palpable masses along them, nontender palpation, the absence of visible erythema, and blepharoptosis in both eyes. The patient presented with bilateral visual field constriction due to mechanical obstruction. An orbital computed tomography scan revealed a dense diffuse lesion involving the pre- and postseptal tissues and invading the orbit of the right eye. A facial magnetic resonance imaging scan revealed infiltration of the postseptal spaces within both orbits. A skin and soft tissue biopsy from the bilateral periorbital regions of both eyes confirmed the diagnosis of NBX. A workup for underlying hematologic malignancies, including plasma cell dyscrasias and lymphoproliferative disorders, was unremarkable. The patient underwent diagnostic and debulking surgery in an attempt to improve her visual function. Subsequently, she was scheduled for ongoing monitoring of her disease progression.

Bilateral Acute Iris Transillumination Associated with Moxifloxacin Antibiotic Use.

PURPOSE: To describe the clinical and demographic characteristics and associated factors leading to bilateral acute iris transillumination (BAIT) syndrome. METHODS: A retrospective review of patients with BAIT syndrome was performed. RESULTS: Thirty-five patients with a diagnosis of BAIT were identified. The median age at presentation was 53 years; 80% of the patients were female. Twenty-six patients (74%) had recent histories of systemic antibiotic treatment. Of those with such a history, 24 patients (92%) had been receiving moxifloxacin. Two patients within our cohort were prescribed moxifloxacin prophylactically prior to a systemic surgical procedure and had no evidence of systemic illness or recent viral illness. CONCLUSIONS: Our data support the notion that moxifloxacin might be associated with the onset of BAIT syndrome. Notably, within our cohort, two patients received moxifloxacin as surgical prophylaxis and subsequently developed BAIT syndrome. This could suggest a potential association between moxifloxacin and the onset of BAIT, though further studies are needed to confirm this finding.

Adjuvant Intravitreal Bevacizumab for Retinal Neovascularization in Eales' Disease Associated With Latent Mycobacterium Tuberculosis.

We report a case of bilateral Eales' disease managed with intravitreal bevacizumab. A 32-year-old woman with a history of bacillus Calmette-Guerin vaccine, administered when she was 10 years old, presented with a five-day history of a scotoma in the temporal field of her right eye. A dilated fundus exam and fluorescein angiography showed bilateral retinal peripheral capillary non-perfusion, retinal neovascularization in the right eye, and deep intraretinal hemorrhages in the left eye. Her laboratory workup resulted in a positive QuantiFERON-TB Gold test (Cellestis Ltd, Carnegie, Victoria, Australia). Chest computed tomography showed a calcified granuloma in her right lung. Angiographic-guided pan-retinal photocoagulation was performed, and intravitreal injections of bevacizumab (1.25 mg/0.05 mL) were administered in both eyes over the course of three months. The intraretinal hemorrhages resolved after three months of therapy. Three months following treatment, the patient showed normal fundus findings without any evidence of recurrence and a visual acuity of 20/20 in both eyes. Intravitreal bevacizumab in combination with angiography-guided pan-retinal photocoagulation may be efficacious in select patients with Eales' disease.

Intravitreal Bevacizumab for Choroidal Neovascular Membrane in Macular Telangiectasia Type 2.

We report a case of macular telangiectasia type 2 with an associated choroidal neovascular membrane and its treatment. A 54-year-old female presented with a history of gradual vision loss in both eyes. A physical exam showed visual acuity of 20/40 in both eyes and significant metamorphopsia in the right eye. A fundus examination of the right eye was remarkable for right-angled vessels in the juxtafoveal region and subretinal fibrosis temporal to the fovea. A fundus examination of the left eye revealed intraretinal crystals in the juxtafoveal region and right-angled vessels. Optical coherence tomography and angiography confirmed the diagnosis of macular telangiectasia type 2 as well as the presence of a choroidal neovascular membrane in the right eye. The patient was treated with 18 intravitreal injections of anti-vascular endothelial growth factor agent in the right eye for two years, with five to six weeks between each treatment, which resulted in the membrane's stability. Our report suggests that anti-vascular endothelial growth factor therapy via intravitreal injection may be beneficial in treating choroidal neovascular membranes in patients with macular telangiectasia type 2.

Atypical Unilateral Birdshot Chorioretinitis in a Hispanic Female.

A 62-year-old female patient was evaluated for gradual vision loss, floaters, and photopsia in her left eye. A left fundus examination revealed vitreous cells, hypopigmented lesions, and retinal vasculitis, and a workup revealed a positive HLA-A29 serology, all of which findings were consistent with birdshot chorioretinopathy. The patient was treated with oral prednisone and mycophenolate mofetil, which resulted in the adequate control of her uveitis. Even though unilateral cases are exceedingly rare and do not meet the established research criteria, this case highlights the importance of not minimizing the significance of birdshot lesions in the differential of patients with unilateral multifocal chorioretinitis.

Aflibercept for the Treatment of Macular Edema Secondary to Idiopathic Retinal Vasculitis, Aneurysms, and Neuroretinitis Syndrome.

We report a case of idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome in a patient whose cystoid macular edema (CME) was successfully treated with aflibercept and pan-retinal photocoagulation (PRP). A 56-year-old male was sent to our uveitis service for further evaluation after a fluorescein angiogram revealed symmetric retinal ischemia for 360 degrees in both eyes. A fundus examination revealed an aneurysm, neuroretinitis, and occlusive vasculitis, all consistent with a diagnosis of IRVAN syndrome. An optical coherence tomography examination revealed CME of the left eye. A chest X-ray revealed minimally prominent interstitial markings. The patient had a positive QuantiFERON-TB Gold test and was treated for tuberculosis with a one-year course of isoniazid and pyrimethamine. A further workup for other infectious and autoimmune etiologies was negative. The initial treatment consisted of bilateral PRP of the areas of peripheral ischemia, treatment for which was provided in a fragmented fashion over the course of seven months. Soon after the diagnosis, he received treatment with two intravitreal injections of aflibercept (2 mg/0.5 mL), one month apart, to the left eye. Subsequently, four months following the presentation, he developed CME in the right eye, which was treated with a single intravitreal injection of aflibercept (2 mg/0.5 mL). At his last follow-up visit, four years after the initial presentation, the patient remained asymptomatic with 20/20 visual acuity in both eyes and no evidence of CME recurrence. Our case suggests that aflibercept may serve as an adjuvant to the standard treatment with PRP, especially in cases that present with associated macular edema.

Retinitis Pigmentosa Sine Pigmento in a Carrier of Usher Syndrome.

We report a carrier of Usher syndrome type I with retinitis pigmentosa sine pigmento. A 71-year-old male was referred for further evaluation of severe, progressive, painless vision loss in both eyes over the course of four years. He had bilateral sensorineural hearing loss. Upon a comprehensive examination, his best-corrected visual acuity was 20/100 in the right eye and 20/40 in the left eye. He had an unremarkable anterior segment examination and normal intraocular pressures in both eyes. Upon fundus examination, the patient had pale discs, optic disc cupping, and multiple scattered drusen in the macula and at the midperiphery of both eyes. Optical coherence tomography showed retinal nerve fiber layer thinning in all quadrants. The visual field was severely constricted in both eyes. A comprehensive workup for infectious and inflammatory causes, as well as a brain MRI, was unremarkable. Sequencing analysis showed that he carried a heterozygous pathogenic mutation, USH1C c.672C>A (p.Cys224*) variant. Usher syndrome is a rare genetic disease characterized by hearing loss and retinitis pigmentosa. Our case suggests that patients and carriers of Usher syndrome may have a phenotype compatible with retinitis pigmentosa sine pigmento.

Pseudodominant Inheritance of Retinitis Pigmentosa Due to Mutations in the Phosphodiesterase 6B Gene: A Case Report.

Mutations in the phosphodiesterase 6B (PDE6B) gene are a rare cause of autosomal recessive retinitis pigmentosa (arRP). We report on a non-consanguineous family with a pseudodominant inheritance of RP due to PDE6B mutations. We conducted a chart review of four members of a Puerto Rican family who underwent a comprehensive ophthalmic evaluation by at least one of the authors. The mutational screening was done using a genotyping microarray provided by Invitae Corporation, using next-generation sequencing (NGS) technology. Genomic DNA obtained from saliva samples is enriched for targeted regions using a hybridization-based protocol and sequenced using Illumina technology. A descriptive analysis was done. Patient 1A had a normal ophthalmic examination and a heterozygous pathogenic variant in the PDE6B gene c.1540del PLeu514Trpfs*61. Patients 1B, 2A, and 2B had mid-peripheral retinitis pigmentosa, concentric visual field ring scotomata in both eyes (OU), extinguished electroretinogram (ERG), and homozygous pathogenic variants in the PDE6B gene c.1540del PLeu514Trpfs*61. Even though mutations in the PDE6B gene usually lead to arRP, they may be inherited in a pseudodominant pattern in geographically isolated populations. Genotyping studies in patients with RP are warranted to classify inheritance mode correctly.

Systemic Disease Associations in a Cohort of Hispanic Patients with Scleritis.

(1) Purpose: A patient with scleritis may have an associated systemic disease, which is often autoimmunological and seldom infectious in origin. The data regarding such associations in Hispanic populations are scarce. Therefore, we evaluated the clinical characteristics and systemic-disease associations of a cohort of Hispanic patients with scleritis. (2) Methods: A retrospective review of the medical records (January 1990-July 2021) of two private uveitis practices in Puerto Rico was performed. Clinical characteristics and systemic-disease associations observed either at presentation or diagnosed as a consequence of the initial workup were recorded. (3) Results: A total of 178 eyes of 141 patients diagnosed with scleritis were identified. An associated autoimmune disease was present in 33.3% of the patients (rheumatoid arthritis, 22.7%; Sjögren's syndrome, 3.5%; relapsing polychondritis, 2.8%; sarcoidosis, 1.4%; systemic lupus erythematosus, 1.4%; and systemic vasculitis, 0.7%). An associated infectious disease was present in 5.7% of the patients (2.13%, syphilis; 1.41%, herpes simplex; 1.14%, herpes zoster; and 0.71%, Lyme disease). One patient had all-trans retinoic-acid-associated scleritis. Statistical analysis revealed that patients with nodular anterior scleritis were less likely to have an associated immune-mediated disease (OR: 0.21; p = 0.011). (4) Conclusion: Rheumatoid arthritis was the most common systemic autoimmune disease association, while syphilis was the most common infectious disease associated with scleritis patients. Our study suggests that patients with nodular scleritis have a lower risk of having an associated immune-mediated disease.

Seasonal Patterns of Vogt-Koyanagi-Harada Disease.

PURPOSE: To identify the relationship between the incidence of Vogt-Koyanagi-Harada (VKH) disease and seasonality. METHODS: A retrospective cohort study was performed, including patients with a confirmed diagnosis of VKH whose month of disease onset was available. Information on patients was entered retrospectively into a database and analyzed according to the month and season. RESULTS: Twenty-four patients who met the inclusion criteria were included in the analysis. There was a statistically significant deviation from expected values in the incidences of VKH per season (P = .043). The most common season for the onset of VKH was fall, with 50% of the patients presenting in this season, while spring was the least common season for VKH presentation, with 12.5% of the patients presenting in this season. CONCLUSION: Our study suggests that the onset of VKH in Puerto Rico follows a seasonal pattern, with most cases occurring during the fall.

Aflibercept as a Treatment for Secondary Central Serous Chorioretinopathy in a Patient With Myasthenia Gravis.

We report on a case of central serous chorioretinopathy (CSCR) secondary to chronic steroid use that showed sustained improvement when treated with an aflibercept intravitreal injection. A 44-year-old woman presented with decreased visual acuity of the left eye (OS). The patient had a recent history of myasthenia gravis and was being treated with systemic corticosteroids and immunosuppressants. At presentation, her visual acuity was 20/80 OS; an examination (using fluorescein angiography) of the left fundus revealed a serous retinal detachment of the posterior pole that extended to the mid-periphery and multiple areas of leakage, which findings were consistent with CSCR. The patient also had a history of unresolved strabismic amblyopia in her right eye. The patient's CSCR was managed with one injection of intravitreal aflibercept (2 mg/0.05 mL). One month following treatment, her visual acuity improved to 20/20 OS, and the serous retinal detachment had resolved. Ten months following treatment, an examination revealed a sustained improvement, with a visual acuity of 20/20 OS. Concomitantly, the patient's amblyopic eye revealed an improved visual acuity of 20/20. Our case suggests that some cases of secondary CSCR may respond to treatment with intravitreal aflibercept. This case also suggests that the CSCR imposed a unique form of occlusion therapy that helped improve the amblyopia of the contralateral eye in this adult patient.