History of Present Illness
A 53-year-old Caucasian male was referred to a tertiary uveitis care unit for chronic bilateral floaters and blurred vision in both eyes (OU). He noticed the floaters for the first time over a year ago but was not worried until his vision started to drop with concomitant distorted vision, 3 weeks before the consultation. His medical history includes tonsillectomy during childhood ( Figs. 37.1 to 37.3 ).
| OD | OS | |
|---|---|---|
| Visual acuity | 20/200 | 20/200 |
| Intraocular pressure (IOP) | 11 | 12 |
| Sclera/conjunctiva | Quiet | Quiet |
| Cornea | Clear | Clear |
| Anterior chamber (AC) | Deep and quiet | Deep and quiet |
| Iris | Unremarkable | Unremarkable |
| Lens | Opalescent | Opalescent |
| Anterior vitreous | Vitritis (1+) | Vitritis (1+) |
Questions to Ask
- •
Did you ever experience redness or pain in your eyes?
He responded no.
- •
Do you have any difficulty while driving in the dark or while performing any activities in dim light?
He responded yes.
- •
Do you ever see any spontaneous or flashing lights?
He answered yes.
Assessment
Bilateral vitritis, retinochoroiditis, and periphlebitis with bilateral macular edema
Differential Diagnosis
- •
Sarcoid-associated posterior uveitis
- •
Syphilitic uveitis
- •
Multifocal choroiditis
- •
Tuberculosis-associated posterior uveitis
- •
Less likely: Acute posterior multifocal placoid pigment epitheliopathy (APMPPE), serpiginous choroiditis, primary intraocular lymphoma, Vogt–Koyanagi–Harada disease in its late phase and sympathetic ophthalmia
Working Diagnosis
- •
Birdshot retinochoroidopathy (BRC): Bilateral autoimmune posterior uveitis belonging to the “white dot syndrome” spectrum of diseases.
- •
The anterior segment is rarely affected, explaining the absence of pain or redness.
- •
Floaters are related to the presence of vitritis, and the exact timing of their occurrence is often difficult to assess because of the insidious and chronic nature of the disease.
- •
Snowballs and snowbanks are not observed in BRC.
- •
Photopsia, nyctalopia, photophobia, and abnormal color vision relate to the fact that this autoimmune disease targets the retina (+ choroid, ± optic nerve).
Testing
- •
The diagnosis of BRC is straightforward in the presence of the classical bilateral “birdshot” white dots, especially when they are associated with bilateral mild to moderate vitritis, and periphlebitis in middle-aged, usually Caucasian individuals (females > males)
- •
Medical history is often unremarkable
- •
HLA-A29 positivity is an important clue
- •
Fluorescein and indocyanine green angiograms (ICGAs) are important to confirm the diagnosis, exclude the differentials, and evaluate the follow-up
- •
Fluorescein angiography does not show the inflammatory dots; however, it can show the presence of:
- •
Papillitis
- •
Capillaropathy, either diffusely or in the macular region (in that case, it is usually associated with the presence of cystoid macular edema [CME])
- •
Periphlebitis
- •
Nonspecific alterations of the retinal pigment epithelium
- •
- •
The birdshot dots are better seen with ICGA
- •
Hypofluorescent round (black dots) lesions (usually more numerous than seen on fundoscopy or green photographs) during the early-to-intermediate phase
- •
The lesions remain hypofluorescent (atrophic) or become isofluorescent (active) during the late phase
- •
ICGA shows choroidal vasculitis of the posterior pole in the form of blurry hyperfluorescent choroidal vessels during the intermediate and late frames of the angiogram
- •
- •
Optical coherence tomography can help identify the cause of decreased vision when present:
- •
CME
- •
Epiretinal membrane
- •
Macular atrophy in the late stages of the disease
- •
It can also show the presence of:
- •
Choroidal granulomas
- •
Choroidal thickening (active) or thinning in the late stages
- •
- •
Optical coherence tomography angiogram (OCTA) may be helpful even though choroidal neovascularization is rare in these cases
- •
- •
Perimetry can show central or peripheral scotomas suggesting the involvement of the macula or the optic nerve
- •
Electrophysiology is important for follow-up and can show the following:
- •
Multifocal electroretinogram (ERG) can show a decrease in the amplitudes of the N1 and P1 waves and an increase in their implicit times
- •
Flicker (30 Hz) ERG often shows increased implicit times
- •
Full-field ERG can become electronegative in the late stages
- •
Electro-oculography can show an abnormal Arden ratio
- •
- •
In all cases, check:
- •
Fluorescent treponemal antibody absorption (FTA-ABS) and/or Treponema pallidum hemagglutination assay (TPHA)–Venereal Diseases Research Laboratory (TPHA-VDRL)
- •
QuantiFERON and/or purified protein derivative (PPD)
- •
Angiotensin-converting enzyme (ACE), lysozyme, and chest x-ray
- •
- •
In doubtful cases, especially when the white dots are difficult to visualize, the diagnosis of intraocular lymphoma should always be ruled out
- •
Anterior chamber (AC) tap with measure of the IL6/10 ratio and brain magnetic resonance imaging (MRI) (at the very least) should be performed to rule out this life-threatening condition that may target the same age population if intraocular lymphoma is suspected
Management
- •
BRC is an insidious autoimmune disease that can evolve slowly towards retinal atrophy and blindness.
- •
Systemic steroids are almost always necessary and started at the dose of 1 mg/kg/day with progressive tapering. Pulses of methylprednisolone may be performed in severe cases.
- •
Systemic immunosuppressive therapy/biotherapies are frequently indicated for a minimum duration of 2 years.
- •
In case of unilateral or bilateral flare-ups while on systemic steroids/immunosuppressive treatment, local steroids are useful adjuncts:
- •
Subtenon triamcinolone
- •
Intravitreal dexamethasone
- •
- •
Intravitreal fluocinolone acetonide can be proposed for more unilateral presentations, especially to prevent relapses.
- •
Anti–vascular endothelial growth factor (VEGF) may be used in rare cases with choroidal neovascularization.
- •
Vitrectomy may be proposed in case of epiretinal membranes.
Follow-up
Corticosteroids and conventional immunosuppressors failed to control macular edema and choriocapillaropathy in this case, requiring the addition of biologic agents with a rapid resolution of macular alterations and improvement of visual acuity.
Management Algorithm
