Woman presents with complaints of seeing ‘stars’ in right eye

Bilateral aneurysmal dilatations of the retinal arteries were seen on examination.

Mark E. Patron

Andre J. Witkin

A 36-year-old woman was referred to the retina service at the New England Eye Center for complaints of seeing “stars” or “snowflakes” in her right eye. The patient described the symptoms as persistent over the prior 12 days. She also noted sensitivity to light more recently. She thought that her visual acuity was good, aside from several episodes of difficulty focusing.

The patient is a Haitian immigrant. She denied any ocular history including surgery, trauma or similar prior episodes. She was otherwise in good health and had no significant medical history. She noted occasional headaches that had been evaluated by her primary care physician – a workup that included a recent MRI of her brain, which was read as normal. These headaches had since subsided with no clear etiology. In a review of systems, she specifically denied any fevers, rash, cough, shortness of breath or joint pains.

Examination

On examination, the patient’s best corrected visual acuity was 20/25 in the right eye and 20/20 in the left eye. Her IOPs, pupil reactions and extraocular movements were normal. Confrontational visual fields revealed a superonasal deficit in her right eye. On slit lamp biomicroscopy, her anterior segments were quiet with clear corneas, deep anterior chambers without cell or flare, and incipient cataracts. No vitreous cells were noted.

Figure 1. Color photos demonstrating aneurysmal dilatation of the retinal arteries at the optic nerve head; retinal whitening and cotton-wool spots along the inferior arcade of the right eye; and mild optic nerve head swelling with a small amount of surrounding hard exudates in both eyes.

Figure 2. Fluorescein angiograms showing early delayed filling of the inferior arteries of the right eye; peripheral non-perfusion; and late staining of the optic nerve head and veins with mild leakage. Images: Lazzara MD, Duker JS

Dilated fundus examination (Figure 1) revealed bilateral aneurysmal dilatations of the retinal arteries at their origin from the optic nerve head, with mild swelling of the optic nerves and some peripapillary hard exudates. A branch retinal artery occlusion was noted in the right eye with corresponding retinal whitening/thickening and overlying cotton-wool spots. Vascular sheathing, predominantly of venules, was observed. Peripheral fundus examination showed non-perfusion in both eyes without evidence of neovascularization.

Fluorescein angiography (Figure 2) demonstrated delayed filling of the inferior arteries in the right eye consistent with a branch retinal artery occlusion. The vascular changes at the optic nerve filled early and leaked dye in later frames. Both optic nerve heads as well as multiple veins showed staining. Peripheral non-perfusion was noted in both eyes. Optical coherence tomography showed thickening in the area of retinal whitening in the right eye, but no intraretinal fluid in either eye.

What is your diagnosis?

Retinal artery aneurysms

The patient’s exam showed bilateral neuroretinitis, aneurysmal dilatations of the retinal arteries at the optic nerve heads, peripheral non-perfusion and vasculitis. In addition, a branch retinal artery occlusion was noted in the right eye with overlying cotton-wool spots.

Differential diagnosis

The differential diagnosis included collagen vascular diseases (eg, systemic lupus erythematosus, rheumatoid arthritis, polyarteritis nodosum), various infectious diseases (eg, Bartonella, Lyme, syphilis, tuberculosis), sarcoidosis and also sickle cell disease, given the patient’s genetic heritage. A thorough workup was performed, including a complete blood count, anti-nuclear antibody titer, rheumatoid factor, anti-neutrophil cytoplasmic antibody, erythrocyte sedimentation rate, C-reactive protein, angiotensin converting enzyme, sickle-cell prep and electrophoresis, rapid plasma reagin, fluorescent treponemal antibody absorption, Bartonella henselae and Lyme titers, and HIV testing. The results of all of these tests were found to be within normal limits except for a slightly elevated erythrocyte sedimentation rate at 33.

The patient was given a presumptive diagnosis of idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome.

Discussion

Idiopathic retinal vasculitis, aneurysms, and neuroretinitis is a rare entity of which there have only been approximately 35 case reports. The first case description was found retrospectively in a series of pediatric uveitis patients reported by Karel in 1973. Two additional cases were described by Kincaid and Shatz in 1983. The syndrome was formally presented, grouped and named by Chang and colleagues in a 10-case paper in 1995.

Clinically, patients have a constellation of characteristic findings. Aneurysmal dilatations of the retinal arteries in the papillary and peripapillary regions are seen with occasional fluctuation in size and location over time. These aneurysms leak and frequently lead to an exudative retinopathy and subsequent visual loss. Peripheral capillary non-perfusion has been described in all patients, occasionally leading to neovascularization and associated vitreous hemorrhage and tractional retinal detachments. The vasculitis has been described as affecting arteries more than veins, although more phlebitis was noted in our patient. Neuroretinitis is evident by late diffuse staining and is hypothesized to result from vascular changes within the optic nerve head. Patients have been reported to have mild vitritis, but this finding has not been noted in all cases and is felt to be either from direct leakage or from an immune response to the vascular exudates.

IRVAN is most common in young, healthy individuals and has shown a slight female predominance. Two remarkable observations are the lack of systemic findings and the ineffectiveness of corticosteroids in treatment. No systemic association has been described despite broad, detailed workups. Despite their utility in other diseases with vasculitis and exudation, corticosteroids have surprisingly not been beneficial and have shown only a transient effect in one of 13 patients in whom steroid treatment was tried as described by Samuel and colleagues.

Our patient was somewhat unique in presenting with a branch retinal artery occlusion, although such a finding was described by Venkatesh and colleagues in 2006. She was fortunate to have avoided any leakage into her macula as confirmed by OCT and retained good central acuity. Because of this, any aggressive intervention was deemed unnecessary. Several efforts at treating the aneurysms in similar patients with laser have resulted in vascular occlusions and thus are not recommended. Given the extent of her peripheral non-perfusion and risk of neovascularization, scatter laser photocoagulation was applied to the affected peripheral retinal areas in both eyes.

The patient maintains 20/20 BCVA in both eyes with no additional changes on fundus exam or concomitant systemic symptoms after 6 months of follow-up. A repeat of her erythrocyte sedimentation rate and anti-nuclear antibody titer are planned on future evaluations.

References:

• Chang TS, Aylward W, Davis JL, et al. Idiopathic retinal vasculitis, aneurysms, and neuro-retinitis. Retinal Vasculitis Study. Ophthalmology. 1995;102(7):1089-1097.
• Diloreto DA Jr, Sadda SR. Idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) with preserved perfusion. Retina. 2003;23(4):554-557.
• Owens SL, Gregor ZJ. Vanishing retinal arterial aneurysms: a case report. Br J Ophthalmol. 1992;76(10):637-638.
• Samuel MA, Equi RA, Chang TS, et al. Idiopathic retinitis, vasculitis, aneurysms, and neuroretinitis (IRVAN): new observations and a proposed staging system. Ophthalmology. 2007;114(8):1526-1529.
• Sashihara H, Hayashi H, Oshima K. Regression of retinal arterial aneurysms in a case of idiopathic vasculitis, aneurysms, and neuroretinitis (IRVAN). Retina. 1999;19(3):250-251.
• Venkatesh P, Verghese M, Davde M, Garg S. Primary vascular occlusion in IRVAN (idiopathic retinal vasculitis, aneurysms, neuroretinitis) syndrome. Ocul Immunol Inflamm. 2006;14(3):195-196.
• Yeshurun I, Recillas-Gispert C, Navarro-Lopez P, Arellanes-Garcia L, Cervantes-Coste G. Extensive dynamics in location, shape, and size of aneurysms in a patient with idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome. Idiopathic retinal vasculitis, aneurysms, and neuroretinitis. Am J Ophthalmol. 2003;135(1):118-120.

• Matthew D. Lazzara, MD, and Jay S. Duker, MD, can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; 617-636-4219; fax: 617-636-4866; Web site: www.neec.com.

• Edited by Mark E. Patron, MD, and Andre J. Witkin, MD. Drs. Patron and Witkin can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; 617-636-4219; fax: 617-636-4866; Web site: www.neec.com.