Title: Fundus Photography and Fluorescein Angiography of Susac’s Syndrome
Author: Katherine Hu, BA
Photographer: Glen Jenkins, Cyrie Frye, Danielle Princiotta
Date: 01/12/2015, 03/11/2015, 04/04/2017
Figure 1. Color fundus photography showing retinal whitening along the superior arcade with corresponding fluorescein angiography showing left superior temporal branch retinal artery occlusions. 1/12/2015.
Figure 2. Widefield fluorescein angiography OU with multiple bilateral branch retinal artery occlusions. Hyperfluorescence and vessel leakage seen in OS. 3/11/2015.
Figure 3. Widefield fluorescein angiography OU with multiple new branch retinal artery occlusions. 4/4/2017.
Keywords/Main Subjects: Susac’s syndrome, branch retinal artery occlusion (BRAO), microangiopathy
Diagnosis: Susac’s syndrome
Description of Image:
Susac’s syndrome is a rare, autoimmune microangiopathy involving the brain, retina, and inner ear. The condition can manifest clinically as a triad of encephalopathy, branch retinal artery occlusions (BRAO), and hearing loss, though not all three features may be present during the onset of the disease. Symptoms often include vision loss, headache, confusion, paranoia, vertigo, tinnitus, and deafness. The syndrome tends to occur in females between 20-40 years of age; it has not been associated with an inheritance pattern or family history. While the etiology and pathogenesis of Susac’s syndrome are unclear, the disease is thought to be an autoimmune disorder targeted at endothelial cells in the microvasculature of the brain, retina, and cochlea.
In the brain, MRI findings show distinctive white matter lesions that primarily involve the corpus callosum; abnormalities of the leptomeninges and gray matter may also be present. Audiogram can reveal sensorineural hearing loss. Fluorescein angiography is essential for identifying BRAO, pathognomonic hyperfluorescence of retinal arteriole walls, and small, yellow punctate arteriole wall plaques. Susac’s syndrome is often confused for demyelinating diseases such as multiple sclerosis and acute disseminated encephalomyelitis (ADEM). Other mimics include chronic encephalitis, meningitis, Lyme disease, thromboembolic disease, systemic lupus erythematosus, and CNS vasculitis. The disease is generally self-limiting, however, early and aggressive treatment with immunosuppressive therapy is recommended to avoid long-term sequelae from acute microvascular damage.
The color fundus photographs and fluorescein angiograms above are from patient KO, who is a 29 year-old Caucasian female. She first presented with acute headache, vertigo, worsening confusion, personality/behavioral changes, and partial vision loss in the left eye. Brain MRI showed extensive lesions in the white matter, deep gray, and cerebellar areas with corpus callosal preference, as well as scattered leptomeningeal enhancement. Neurological work up was non-focal and non-contributory. Upon examination, she was found to have a left superior temporal branch retinal artery occlusion visible on both fundus photography and fluorescein angiography (Figure 1). Fundus photography shows a central area of whitening due to ischemia as a result of microvascular occlusion. On subsequent widefield angiography, multiple bilateral BRAO with vascular leakage were seen (Figure 2). The images obtained display characteristic BRAO located distal of the arteriolar bifurcations with associated arteriolar wall plaques that do not resemble emboli or cholesterol plaques. Hyperfluorescence and leakage of the retinal arteriole wall seen are due to active endothelial injury. The patient was treated with high-dose Prednisone, Cellcept, and IVIG with relative stabilization of her disease. However, her clinical course was complicated by multiple microvascular ischemic strokes and new left-sided hearing loss in April 2017 when IVIG was discontinued. Follow-up examination revealed extensive retinal edema inferiorly in the left eye, contiguous with areas of retinal non-perfusion as a result of new BRAO suggesting progression of the disease (Figure 3).
Format: JPG file
Egan RA, Hills WL, Susac JO. “Gass plaques and fluorescein leakage in Susac Syndrome.” Journal of the Neurological Sciences. 2010 Dec;299(1-2):97-100.
Rennebohm RM, Egan RA, Susac JO. “Treatment of Susac’s Syndrome.” Current Treatment Options in Neurology. 2008 Jan;10(1):67-74.
Susac JO. “Susac’s Syndrome.” American Journal of Neuroradiology. 2004 Mar; 25(3):351-352.
“Susac Syndrome.” Genetic and Rare Diseases Information Center. U.S. Department of Health and Human Services. Web. Accessed 24 June 2017. <https://rarediseases.info.nih.gov/diseases/7713/susac-syndrome>
Faculty Approval by: Akbar Shakoor, MD
Copyright statement: Copyright Conrady, ©2017. For further information regarding the rights to this collection, please visit: http://morancore.utah.edu/terms-of-use/
Title: MEWDS (Multiple Evanescent White Dot Syndrome)
Author: J. Erik Kulenkamp
Photographer: James Gilman
Figure 1: Montage Color Fundus Photo, Right Eye
Figure 2: Fundus Autofluorescence, Right Eye
Figure 3: Fluorescein Angiogram, Right Eye
Keywords/Main Subjects: Disorders of the Retina and Vitreous – Noninfectious Retinal Inflammation
Diagnosis: MEWDS (Multiple Evanescent White Dot Syndrome)
Description of Image: Multiple Evanescent White Dot Syndrome, or MEWDS, is a rare condition characterized by noninfectious inflammation at the level of the retinal pigment epithelium. It is part of a group of white dot syndromes that also includes acute posterior multifocal placoid pigment epithelipathy, birdshot retinopathy, multifocal choroiditis, multifocal choroiditis and panuveitis, punctate inner choroidopathy, and serpiginous choroidopathy1. MEWDS is much more common among females, especially those who are myopic, and typically appears in middle age. Patients usually present with decreased vision in one eye involving an enlarged blind spot, but they also occasionally experience photopsias. One-third of MEWDS cases are proceeded by a viral illness several weeks before becoming symptomatic2. When MEWDS is suspected, it is important to rule out neoplastic and infectious causes, which can sometimes share similar presentations. The characteristic finding on dilated fundoscopic examination (DFE) is small, intraretinal white dots in a wreath-like distribution around the macula3. The majority of patients improve within 2-6 weeks without steroid treatment, although the occasional individual will have a persistently enlarged scotoma2.
A 48 year old myopic female presented with one week of an enlarged blind spot. She recalls that parts of words were missing from her vision in her right eye and that the area of missing vision was surrounded by blurriness. She was born in Argentina, but denied recent travel, fevers, weight loss, shortness of breath, recent illness, pets, STI’s, or IV drug use. Visual acuity in the right eye was 20/80 -1, down from 20/50 -1 six months prior, and 20/20 in the left eye. On DFE, numerous white dots were observed in a wreath-like distribution around the macula, ranging 200-300 microns in size. These dots can be seen in Figure 1, which demonstrates the classic appearance of MEWDS in a montage color fundus photo of the right eye. The optic nerve and disc appear normal, as do the vessels, but there is foveal granularity in the macula. The white dots are densest emanating from the optic nerve. Figure 2 is a fundus autofluorescence (FAF) photo of the same eye, illustrating a multitude of hyperfluorescent dots surrounding the optic nerve and extending to encompass the macula. The extent of retinal involvement, especially nasally, is much more apparent in the FAF. Figure 3 demonstrates a fluorescein angiogram with hyperfluorescence in a similar pattern to the FAF, which remains notable in the late phase. Again, the wreath-like distribution with greatest density near the optic nerve is visible. 30-2 Humphrey Visual Field correlated with the patient’s history of an enlarged blind spot in the right eye. Each study was performed in the left eye as well, but all were unremarkable. Additional workup including CBC, CMP, ESR, CRP, FTA-ABS, ACE, lysozyme, quanterferon gold, and CXR were within normal limits, making MEWDS the presumptive diagnosis. On follow up ten days later, the patient reported improved blurriness and resolution of her scotoma without treatment, and OD visual acuity improved to 20/70 -2.
- Raven ML, Ringeisen AL, Yonekawa Y, Stem MS, Faia LJ, Gottlieb JL. Multi-modal imaging and anatomic classification of the white dot syndromes. Int J Retina Vitr. 2017;3:12. doi:10.1186/s40942-017-0069-8.
- McCannel, Colin. 2017-2018 Basic and Clinical Science Course: Retina and Vitreous: American Academy of Ophthalmology; 2017.
- Bagheri N, Wajda BN, Calvo CM, Durrani AK, Friedberg MA, Rapuano CJ. The Wills Eye Manual: Office and Emergency Room Diagnosis and Treatment of Eye Disease. Seventh edition. Philadelphia: LWW; 2016.
Faculty Approval by: Griffin Jardine, MD
Title: Choroidal Coloboma
Author(s): Eileen S. Hwang, MD, PhD; Akbar Shakoor, MD
Image: Figure 1. Montage color fundus photograph of the left eye demonstrating an anomalous optic nerve and a choroidal coloboma
Keywords/Main Subjects: Choroidal Coloboma
Diagnosis: Choroidal Coloboma
Brief Description: The patient is a 65 year old female who presented for an abnormality found on a diabetic screening examination. She reported that she had a history of a congenital abnormality of her left eye and had poor vision in that eye since she was young. On examination, her visual acuity in the left eye with correction was 20/200. She had an iris coloboma from 6:00 to 8:00. Her left optic nerve had an anomalous appearance. She had a large well-demarcated, hypopigmented, excavated area of her retina inferior to the optic disc in the left eye.
Choroidal coloboma is a rare developmental abnormality that is caused by problems with closure of the embryonic fissure. In the area of the coloboma, the choroid and the outer layers of the retina are missing. On the surface of the coloboma, there is a thin intercalary membrane consisting of inner layers of the retina. The intercalary membrane is prone to breaks, and patients with choroidal colobomas may have up to a 40% risk of retinal detachment (Gopal, 1998). Detachments are most likely to occur in the second and third decades of life. In the absence of a retinal break or detachment, a choroidal coloboma can be observed. When intervention is required, diode laser demarcation of the coloboma is preferred over argon laser since diode laser causes less damage to the nerve fiber layer. To tamponade retinal detachments in patients with choroidal colobomas, silicone oil has been used with success (Schubert, 2005).
References: Schubert HD. Structural organization of choroidal colobomas of young and adult patients and mechanism of retinal detachment. Trans Am Ophthalmol Soc. 2005;103:457-72.
Gopal L, Badrinath SS, Sharma T, Parikh SN, Shanmugam MS, Bhende PS, Agrawal R, Deshpande DA. Surgical management of retinal detachments related to coloboma of the choroid. Ophthalmology. 1998 May;105(5):804-9.
Relevant links: Ort, Victoria, and David Howard. Development of the Eye. Retrieved 9 June 2015. http://education.med.nyu.edu/courses/macrostructure/lectures/lec_images/eye.html
Series: Moran Eye Center Image Report
Copyright statement: ©2015. For further information regarding the rights to this collection, please visit: http://morancore.utah.edu/terms-of-use/