Birdshot chorioretinopathy

PURPOSE OF REVIEW: Birdshot chorioretinopathy is the disease with the strongest link to a human leukocyte antigen class I allele. Current research aims at understanding its immunogenetic mechanisms, focusing on the A29 allele, its subtypes, and on other loci of the human leukocyte antigen region. Research criteria can be applied to define birdshot chorioretinopathy. Its heterogeneous presentations and its multiple consequences on visual function are being delineated. RECENT FINDINGS: HLA-A*2902 is the most frequent subtype in Caucasians and in patients with birdshot chorioretinopathy. The condition has also been observed, however, in a few HLA-A*2901 Caucasian patients, but remains absent or extremely rare in Asia where HLA-A*2901 is the most prevalent subtype. Birdshot chorioretinopathy affects visual acuity, color vision, contrast sensitivity or visual field and pigmentation of birdshot spots could be a marker of disease severity. Electroretinography has been used to monitor the course of the disease; abnormalities may be due to altered outer retinal function or to inner retinal dysfunction. Various therapeutic regimens have been tested and most studies confirm that corticosteroids alone are not a sustainable treatment for patients with birdshot chorioretinopathy. SUMMARY: Progress has been made in understanding the spectrum of manifestations of birdshot chorioretinopathy. The disease remains of unknown cause and many decisions regarding the management of patients are still empirical.     

Birdshot chorioretinopathy

Birdshot chorioretinopathy is a well-known, yet poorly understood, form of posterior uveitis, characterized by multiple, distinctive, hypopigmented choroidal lesions, and strongly associated with human leukocyte antigen (HLA)-A29. We reviewed all English language publications regarding birdshot chorioretinopathy and performed analyses of combined patient data taken from these articles. The mean age at presentation was 53 years, with a slight female predominance (54.1%). At least 95.7% of reported patients have been HLA-A29-positive. Blurring of vision and floaters are the most prevalent presenting complaints, even in patients with visual acuity of 20/20 or better in both eyes. Birdshot chorioretinopathy is a slowly progressive disease with profound dysfunction of vision that may not be reflected in Snellen visual acuity. Two or more lines of Snellen visual acuity were lost in approximately 20% of eyes over a median follow-up of 3.5 years; macular edema was the most common cause of reduced visual acuity. Overall, patients had a slow decline in visual acuity, despite the fact that nearly all were treated with anti-inflammatory therapies. Final visual acuity in the better eye was 20/40 or better in 75.1% of patients and 20/200 or worse in 9.8% of patients. Oral corticosteroids and cyclosporine were the most commonly used medications. Using a regression model, patients in the literature that have been treated with cyclosporine alone had better final visual acuity than patients treated with oral corticosteroids alone. Further study is needed to determine the optimal methods for treating and monitoring patients with birdshot chorioretinopathy.     

Birdshot chorioretinopathy: long-term manifestations and visual prognosis

PURPOSE: To ascertain the clinical features and long-term visual prognosis of birdshot chorioretinopathy (BCR), and to identify patients at risk of visual loss. DESIGN: Retrospective noncomparative case series. PARTICIPANTS: Fifty-five consecutive patients with HLA-A29-positive BCR who were identified in ophthalmology departments of the University Medical Center of Utrecht and The Eye Hospital Rotterdam, of whom 37 were observed for at least 5 years. INTERVENTION: A review of the medical and photographic and/or angiographic records of 55 patients with HLA-A29-positive BCR. MAIN OUTCOME MEASURES: Numerous variables were compared, including age and gender distribution, onset and course of BCR, ocular manifestations, therapeutic strategies and their outcomes, complications, systemic diseases, visual acuity (VA), and features associated with poor visual outcome. RESULTS: Loss of VA was gradual; the number of affected eyes with VA less than 20/200 increased from 9 of 108 (8%) at onset to 22 of 73 (30%) at 5 years and 19 of 49 (39%) at 10 years of follow-up. The cause of compromised VA was predominantly macular edema and macular atrophy (42 of 55 [76% of cases]). We found strong associations between the VA at onset and visual outcome after 5 and 10 years (P = 0.005 and P = 0.006, respectively). Mean VA at the 5-year follow-up was significantly lower if macular leakage was observed on angiography (P<0.001). No differences in annual loss of VA were observed between patients treated by standard therapeutic modalities and untreated patients. CONCLUSION: The visual prognosis of BCR in a spectrum of uveitis is poor, and the recommended therapeutic regimens have had no effect on long-term visual prognosis. New treatment strategies are needed for this blinding disorder.     

Birdshot chorioretinopathy - vitiliginous chorioretinitis

Six patients with typical birdshot chorioretinopathy are described. Characteristic features are: scattered cream-coloured hypopigmented or atrophic spots, cystoid macular oedema and/or papilloedema, chronic vitritis but with minimal or no inflammatory signs in the anterior segment and without white precipitates in the pars plana. Choroidal and retinal vasculopathy are shown to be essential features.     

Birdshot chorioretinopathy associated with tamoxifen retinal toxicity

We report a case of Birdshot retinochoroidopathy associated with ocular toxicity due to tamoxifen. Adverse drug effects were suspected due to the presence of yellow-white dots in the paramacular region and the fovea and by modifications of the retinal epithelial pigments. Ocular toxicity should be suspected as it may be reversible if recognized and stopped early. Other adverse ocular effects are described and the pathogenic mechanism of tamoxifen retinopathy analyzed.     

Birdshot chorioretinopathy: systemic therapy with corticosteroids and nonsteroidal anti-inflammatory drugs

The symptoms and clinical course of a case of birdshot chorioretinopathy are described. The patient was a 40-year-old woman. The condition can be treated with two types of medication, i.e., steroids and nonsteroidal anti-inflammatory drugs. Both appear to have a beneficial effect. Overall, however, the prognosis for this rare disease of unknown etiology remains uncertain. Given the slow progressive course, with spontaneous remissions and exacerbations, it is extremely difficult to evaluate the success of different forms of therapy.     

Longitudinal cohort study of patients with birdshot chorioretinopathy. I. Baseline clinical characteristics

PURPOSE: To describe baseline clinical characteristics of a cohort of 80 patients with birdshot chorioretinopathy in anticipation of a longitudinal study, and to identify relationships between visual acuity, symptoms, and ophthalmic findings. DESIGN: Single-center cross-sectional study. METHODS: A standardized examination was performed in the same order on a single day for each patient. A grading system for birdshot lesions was established prospectively to evaluate the following lesion characteristics: quantity, distribution, morphology, and pigmentation. Relationships between clinical features of disease were sought in multivariate analyses that adjusted for age, duration of uveitis, and treatment. RESULTS: Mean age at baseline examination was 55.6 years. Median best-corrected visual acuity (BCVA) was 0.8 (range, counting fingers to 1.2). There were no relationships between BCVA and any birdshot lesion characteristic. The most common cause of BCVA < or =0.4 was macular edema. Visual symptoms were present in 78 patients (97.5%), including 17 (94.4%) of 18 patients with BCVA > or =1.0 in both eyes. Blurred vision was associated with decreased BCVA (P = .02) and macular edema (P = .022). Increased lesion pigmentation was associated with complaints of blurred vision (P = .030), vibrating vision (P = .011), and nyctalopia (P = .056). CONCLUSIONS: Symptoms are common in patients with birdshot chorioretinopathy, even among those with good BCVA. Lesion pigmentation may be a marker of decreased visual function that is not reflected in central visual acuity. These findings highlight the limitation of using visual acuity measurements for monitoring patients with birdshot chorioretinopathy and as an outcome measure for studies of this disease.     

Onchocerciasis in Ecuador: evolution of chorioretinopathy after amocarzine treatment.

AIMS: To investigate the impact of the macrofilaricidal drug, amocarzine, on the evolution of chorioretinopathy in onchocerciasis. METHODS: A prospective uncontrolled cohort study was performed using subjects infected with Onchocerca volvulus in a hyperendemic onchocerciasis focus in Esmeraldas Province in Ecuador. Study subjects were recruited into four cohorts in which ophthalmic and parasitological data were collected for 2, 3, 4, and 5 years respectively. RESULTS: Complete ophthalmic follow up was obtained for 294 individuals in the four cohorts. The incidence of retinal pigment epithelial atrophy tended to remain constant between cohorts while that of chorioretinal scarring with a greater observation period. The incidence rate of cases with new or extending chorioretinal lesions was greater with an increasing period of follow up. An association was seen between the cumulative microfilarial loads in the skin and the development of new chorioretinal lesions (p < 0.05). No relation was noted between cumulative microfilarial loads and the progression of existing disease. CONCLUSION: Amocarzine therapy did not prevent the natural evolution of chorioretinal disease. It was suggested that ocular microfilariae were necessary for the induction of chorioretinopathy in previously unaffected eyes and that extension of existing disease might also be related to the presence of ocular microfilariae or to other immunological mechanisms.     

Birdshot retinochoroidopathy and subretinal new vessels.

Decrease of visual acuity in birdshot retinochoroidopathy is due either to optic atrophy or to 3 types of macular involvement: cystoid macular oedema, geographic atrophy, or macular serous detachment. We describe 3 cases of juxtapapillary subretinal neovascularisation occurring in long-standing birdshot retinochoroidopathy. The mechanism of the formation of the new vessels is discussed.     

Birdshot retinochoroidopathy in monozygotic twins.

Birdshot retinochoroidopathy is a rare ocular disorder which was named and delineated as a separate clinical entity by Ryan & Maumenee in 1980. We diagnosed birdshot retinochoroidopathy in a monozygotic pair of twins, who were affected with a time interval of 12 years, respectively. These are the first with birdshot retinochoroidopathy to be reported from the Nordic countries and the first report on this disorder in monozygotic twins. Due to night-blindness, visual field defects and a severely affected electroretinogram one of our cases initially was diagnosed as a choroidoretinal dystrophy. Birdshot retinochoroidopathy should be kept in mind as a differential diagnosis in retinitis pigmentosa-like disorders with widespread choroidal involvement. Our cases substantiated the evidence of a strong correlation with the presence of HLA-A29 antigen.     

Birdshot retinochoroidopathy: ocular complications and visual impairment

PURPOSE: To describe the incidence of vision loss and of ocular complications attributable to birdshot retinochoroidopathy and to describe the association between therapy and the incidence thereof. DESIGN: Retrospective cohort study. METHODS: SETTING: Single-center, academic practice. STUDY POPULATION: Forty patients with birdshot retinochoroidopathy were evaluated from January 1984 through March 2004. OBSERVATION PROCEDURE: Demographic and clinical information on patients diagnosed with birdshot retinochoroidopathy was collected. MAIN OUTCOME MEASURES: Visual acuity and visual field loss; ocular complications including cystoid macular edema (CME). RESULTS: In affected eyes, the frequencies of vision loss to 20/50 or worse and to 20/200 or worse and of CME at presentation were 33%, 13%, and 20%, respectively. Patients who presented with a duration of disease of > or = 30 months had higher frequencies of visual impairment to 20/50 or worse (68% vs 32%; P = .004) and to 20/200 or worse (32% vs 9%; P = .01), and had a higher frequency of CME (38% vs 14%; P = .02) than patients who presented with a duration of disease <30 months. The incidence rates on follow-up for vision loss to 20/50 or worse and to 20/200 or worse were 13% and 4% per eye-year (EY), respectively. The incidence of CME was 10%/EY. Use of immunosuppressive drug therapy was associated with a reduced risk of developing CME (relative risk = 0.17; 95% confidence interval: 0.05, 0.64; P = .009). CONCLUSIONS: Birdshot retinochoroidopathy is a progressive disease with the potential for visual impairment. Patients who present at a later date after the onset of disease were more likely to have vision impairment and CME. Use of long-term immunosuppressive therapy may reduce the risk of CME.     

Central serous chorioretinopathy in elderly subjects: angiographic and tomographic characteristics

Graefe's Archive for Clinical and Experimental Ophthalmology - To investigate the angiographic, tomographic, and clinical characteristics of idiopathic central serous chorioretinopathy (CSC) in...     

HLA-A29 and Birdshot Chorioretinopathy

Birdshot chorioretinopathy primarily affects patients of European descent. At least 96%, if not all patients, are HLA-A29 carriers. HLA-A*29:01 and HLA-A*29:02, the two main subtypes of HLA-A29, differ only by a single mutation. In the general population HLA-A*29:02 is most frequent in whites, while HLA-A*29:01 is more frequent in Asians. The differential distribution of HLA-A*29:01 and HLA-A*29:02 has been actively debated as an explanation for the selective development of the disease in patients of European descent, but is no longer a valid argument. Another factor, probably not HLA linked, is either protective in Asians and in Africans or, conversely, triggers an autoimmune reactivity that is possibly present in whites and absent in Asians and in Africans. HLA-A*29:02 transgenic mice in which a spontaneous posterior uveitis is observed after 6 months of age provide further evidence that the HLA-A29 molecule plays a role in the pathogenesis of the disease.     

Axial length as a basic anatomical predictor for morphological and clinical characteristics in acute central serous chorioretinopathy

ObjectivesTo study the association between axial length (AL) and morphological and clinical characteristics in acute central serous chorioretinopathy.MethodsAll patients received optical coherence tomography, fluorescein angiography (FA), optical biometry, and retro-mode scanning laser ophthalmoscopy. The distance between the leakage point and the centre of the fovea were defined using FA images, and its correlation with AL, subfoveal choroidal thickness (SCT), central retinal thickness (CRT), and neurosensory detachment (NSD) area was calculated. The number of leaks, rate of bilateral involvement, and recurrence rate was evaluated.ResultsForty-seven patients (47 eyes) were included in this study (38 males, 9 females, mean age 43.5 ± 10.8 years). The distance between the leakage point and the centre of the fovea had a correlation with AL (r = −0.38, p = 0.008), SCT (r = 0.51, p = 0.0004), and the area of NSD (r = 0.5, p = 0.0006) but not with CRT (r = −0.11, p = 0.45). A statistically significant difference in the distance between the leakage point and the centre of the fovea was found between eyes with short (<23.0 mm), medium (23.0–24.0 mm), and long (>24.0 mm) AL (p = 0.014). Number of leaks, rate of bilateral involvement, and recurrence rate had a negative linear association with AL (p < 0.05).ConclusionsAL appears to be the basic anatomical predictor, which associated with morphological and clinical characteristics in acute central serous chorioretinopathy.Subject terms: Retinal diseases, Predictive markers     

Birdshot retinochoroidopathy: immunopathogenesis,evaluation, and treatment

Birdshot retinochoroidopathy (BSR) is a bilateral posterior uveitis. A putative organ-specific autoimmune disease, it is strongly associated with the HLA-A29 allele, and understanding the immunopathogenesis of BSR is of great interest. The clinical features include minimal anterior uveitis, vitritis, retinal vasculitis, cystoid macular edema, and distinctive hypopigmented choroidal lesions. Findings on electrophysiology studies and angiography have implications for understanding the pathophysiology of the disease, and may be useful for following the course of BSR and the response to therapy in individual patients. The decision to initiate therapy can be difficult, but corticosteroids and immunosuppressive agents are often used.     

Central serous chorioretinopathy.

BACKGROUND: Central serous chorioretinopathy is a condition typically affecting young adults between 25 and 50 years of age. It is predominating in type A personality trait men. Central serous chorioretinopathy is defined clinically as a detachment of the sensory retina that is commonly unilateral but can also be bilateral. Laser photocoagulation has been used widely with central serous chorioretinopathy to prevent recurrence and to speed recovery time. Photodynamic therapy is emerging as a potential treatment for chronic central serous chorioretinopathy. The prognosis for resolution and visual recovery for patients with central serous chorioretinopathy is excellent. Approximately 95% of patients with central serous chorioretinopathy will recover to a final visual acuity of 20/30. CASE REPORTS: Patient 1 was a 57-year-old man who reported to the clinic with a complaint of central scotoma involving the left eye. He also had a decrease in best-corrected visual acuity of 20/30 in the left eye. Idiopathic central serous chorioretinopathy was diagnosed, and observation was the management choice. At the 6-month follow-up, the patient's left eye visual acuity had returned to 20/20. Patient 2 was a 63-year-old man who reported to the clinic with decreased central vision of the left eye. His best-corrected visual acuity in that eye was 20/40. This was an unusual case because of the patient's age and the risk of macular degeneration. With fluorescein angiography and optical coherence tomography, the diagnosis of central serous chorioretinopathy was confirmed. At the 10-month follow-up the patient's acuity had returned to 20/20 in the left eye. Patient 3 was a 59-year-old man who reported to the clinic with decreased vision in the left eye. His best-corrected visual acuity was 20/60 in that eye. He is a kidney transplant recipient and was taking 60 mg of prednisone. The patient was found to have steroid-induced central serous chorioretinopathy. Observation was the management of choice for several months without resolution. Focal laser photocoagulation was performed at the 6-month follow-up, which did not help, and his ultimate visual acuity in the left eye was 20/400. He returned to the clinic 3 years later with the same complaint in his right eye. The patient was again found to have steroid-induced central serous chorioretinopathy but in the right eye, with a best-corrected visual acuity of 20/30. Because of the failure of photocoagulation in the left eye, observation was the chosen management option. The central serous chorioretinopathy did not resolve, and because of this it was decided that the patient's nephrologist be contacted to suggest a decrease in the patient's oral prednisone dose. The nephrologist decreased his prednisone from 60 mg daily to 5 mg daily. With this change, the patient's visual acuity stabilized at 20/25. The central serous chorioretinopathy was still present but without subjective visual complaints. CONCLUSION: Central serous chorioretinopathy is a condition that normally affects type A personality trait men. Also, patients taking any type of corticosteroids must be watched closely for the development of central serous chorioretinopathy. There is no good course for treatment, with observation being the best management choice. Photodynamic therapy may become the treatment choice for patients with chronic central serous chorioretinopathy, but more studies on the use of photodynamic therapy need to be completed.