Authors: Lekha Samuel

Title: 150 characters Birdshot Retinochoroidopathy: A Case Study

Abstract 35 words

Birdshot retinochoroidopathy is a bilateral inflammatory condition found most commonly in Caucasian females. Birdshot is a subset of the white dot syndromes, has a classic presentation, and may lead to a poor clinical outcome.

I. Case History

A. Patient demographics: - 42 year old Caucasian female B. Chief Complaint: - Blur at near in both eyes, with or without spectacle wear C. Ocular/Medical history: - Last eye examination was three years ago - OcHx: (+)birdshot retinochoroidopathy, OU - Last medical examination was three months ago - MHx: (+)asthma, hypertension, abnormal transaminase/LFT and hyperlipidemia D. Medications: - Systemic medications: Albuterol sulfate HFA 90 mcg, atorvastatin 80 mg, Flonase 50 mcg, Lisinopril 20 mg- hydrochlorothiazide 12.5mg, omeprazole 40 mg, Zyrtec 10 mg E. Other salient information: - (+)sulfa drugs - Denies tobacco, recreational drug or alcohol use.

II. Pertinent findings

A. Clinical - Entering VA cc: 20/20+2 OD, 20/20+2 OS, 20/40 OU at near - Habitual Rx: OD: +3.50-0.50x105 OS: +4.00-1.00x025 - Manifest refraction: OD: +3.50-0.50x090 (20/15) OS: +4.00-1.00x025 (20/15) with +1.50 ADD (20/15 OU) - CVF FTFC OD, OS; EOMs FROM, OU; PERRLA (-) APD - TAG: 15mmHg OD/15mmHg OS at 10:30 am - Slit lamp biomicroscopy was unremarkable: o Lids and adnexa were normal, OU o Bulbar and palpebral was normal, OU o was clear and without defect, OU o Anterior chamber was deep and quiet, OU o was normal and blue, OU o was clear, OU - The patient was dilated with 1 drop of 1% Tropicamide, OU: o C/D: 0.1 round, flat head OU with prepapillary venous loop OS o Macula: flat and intact, (-) FLR, OU o Posterior pole: multiple hypopigmented lesions noted more inferiorly than superiorly, OU o Periphery: flat, no holes, tears, or retinal detachments, OU B. Laboratory Studies Pertinent laboratory results from three years prior: - (+)HLA-A29 correlation - ESR: 38 (H) - RPR: nonreactive - FTA-ABS: nonreactive - HIV-1, 2 antibody: negative - Rheumatoid factor: <15 (N) - FANA: negative - ACE: 42 U/L (N) - HLA-B27 toxicity: negative - CMV IGG AB: > 160 (H) - CBC with differential: o Hematocrit: 40.5% (N) o Hemoglobin: 13.7 g/dL (N) o Platelet count: 310 K/mm3 (N) o WBC: 7.9 K/mm3 (N) . C. Ocular Imaging - Fundus photography: multiple discrete yellow lesions, OU - Optical coherence tomography: mild RPE disruption in the area of the lesions, OU - IVFA: late stage hyperfluorescence of the lesions, OU

III. Differential diagnosis

A. Primary/leading - Multiple evanescent white dot syndrome - Punctate inner choroidopathy - Acute posterior multifocal placoid pigment epithelialopathy B. Others - Posterior and intermediate with chorioretinal lesions - Vogt-Koyanagi-Harada disease - Non Hodgkins lymphoma of the - Sarcoid choroidopathy - Multifocal choroiditis - Pars planitis - Primary intraocular lymphoma - Posterior - Sympathetic ophthalmia - Syphilis - Tuberculosis - Bechet’s disease

IV. Diagnosis and discussion

A. Elaborate on the condition i. Birdshot retinochoroidopathy is a chronic bilateral inflammatory condition with characteristic multiple cream-colored lesions located at the level of the RPE and choroid.1 ii. This condition is named for its similarity to the scatter of a shotgun.4 iii. This disease is most often found in middle aged (40-60 year old) Caucasians more than any other race, and is often seen in females more than males. iv. Birdshot is not associated with any other health conditions, but is considered an autoimmune disease because of its association with the HLA-A29 allele. 1 v. 88-95% of people with birdshot retinochoroidopathy also have the HLA–A29 allele.3 HLA-A29 is found in 8% of the general population. vi. Patients initially present with symptoms of decreased vision, , glare, and photopsia. vii. Vitritis is the most common sign and is found in nearly 100% of cases; other signs that are common include , edema, and later, cystoid . 1,2 viii. Anterior uveitis is not often seen in birdshot.1 ix. Multiple hypopigmented lesions begin the disease course to later become cream-colored lesions. 2 The lesions are characteristic in that they lack pigmentation that is found in chorioretinal scars. x. The lesions are less than a disc diameter in size and numerous; they often spread from the equator to the posterior pole. 1

B. Expound on unique features i. The clinical course is varied in that there are several recurrences of active inflammation and periods of remission. 1 ii. As the cream-colored lesions appear, the changes in the and vitreous may regress. 3 iii. The disease may have a low-grade inflammation that can result in no complaints or complaints of long-term floaters. iv. The disease is chronic and the most common complication is the recalcitrant chronic vitritis. v. In later stages, it may be associated with epiretinal membranes, retinal neovascularization, anterior ischemic , CNV and optic atrophy. vi. Vision loss is due to chronic macular edema, , subretinal neovascularization and scar formation, formation or .1,3 vii. The prognosis of the disease is guarded. viii. According to Priem, twenty percent of patients with birdshot have a self-limiting variant of the disease and experience only periods of inflammation and remission and visual acuity stabilizes at 20/30 to 20/40. 3,4 These patients have a remission of vitreal inflammation and can maintain excellent visual acuity, but have the retinal lesions. ix. For the other 80% of those with birdshot retinochoroidopathy with duration longer than two years, 2/3rds had visual acuity worse than 20/50 and 1/3rd had visual acuity worse than 20/200. x. The five year cumulative incidence of acuity of less than or equal to 20/200 was 20%. xi. Cystoid macular edema is the main cause of vision loss, though other ocular sequelae also contribute. 1,3 xii. The diagnostic criteria include: a. Bilateral, symmetrical, birdshot flecks in the fundus b. A mild to severe inflammation of the vitreous often accompanied by CME c. The presence of HLA-A29 antigen 2

V. Treatment, Management

A. Treatment and response to treatment i. Written Rx issued for first PAL and educated regarding adaptation. The patient was re-educated regarding the disease process and possible negative sequelae. The patient was advised to return immediately if she noticed changes in visual acuity, fluctuations in vision or persistent floaters. The patient was advised to have annual dilated fundus examination. ii. There is currently no optimal therapy for treating birdshot retinochoroidopathy. iii. , cyclosporine, and even cytotoxic agents have been employed in more resistant cases to bring inflammation under control.1,2 iv. Systemic corticosteroids higher than 10mg/day have been shown to control the inflammation with faster resolution. 1 v. Currently a combination of prednisone and cyclosporine is used because it allows for a lower dose of steroid with some effectivity.3 vi. Longterm therapy with immunomodulators has shown some efficacy at reducing vitreous inflammation and improving vision.1,3 vii. Even with treatment the disease will continue to progress, but at a slower rate. Vitrectomy has shown to improve visual acuity outcome in some cases. 1 viii. In the remission stage, without active inflammation, the patient needs to be followed yearly for best corrected visual acuity and to monitor for complications. When the patient is in the active stage of inflammation more frequent follow up is required to manage inflammation. ix. Rehabilitation and low vision devices may be necessary for those with significant vision loss. 1-3

VI. Conclusion i. This is a unique case of birdshot retinochoroidopathy in which the patient has not experienced the negative ocular sequelae that is usually present with this condition. Because visual prognosis is poor with associated sequelae, it is important to monitor retinal changes to be sure that this patient can be treated early in the disease process to possibly preserve visual acuity.

Clinical Pearls 1. Bilateral, chronic inflammatory condition 2. (+)HLA-A29 allele 3. Often associated with vitreal inflammation 4. Patient presents with complaints of floaters or visual fluctuations 5. Characteristic creamy white lesions at the level of the RPE and choroid

VII. Bibliography 1. Alexander, Larry. Primary Care of the Posterior Segment. 3rd Ed. McGraw- Hill 2002:186-187. 2. Gasch A, Smith J, Whitcup S. Birdshot Retinochoroidopathy. British Journal of . 1999. Vol 83: 241-249. 3. Priem H. Birdshot Chorioretinopathy. Orphanet Encyclopedia. Web. 22 August, 2014. https://www.orpha.net/data/patho/Pro/en/ChorioretinopathyBirdshot- FRenPro3404.pdf 4. Ryan SJ, Maumenee AE. Birdshot retinochoroidopathy. Am J Ophthalmol 1980. Vol 89: 31-45.

The author would like to acknowledge Mohammad Rafieetary, OD at Charles Retina Institute for consultation on this case.