Vitreous amyloidosis is characterized by progressive loss of vision from amyloid accumulation of deposits on the retina and in the vitreous. Time domain optical coherence tomography (TD-OCT) was used in a case of familial transthyretin vitreous amyloidosis Met30 mutation to image the anterior vitreous deposits, which showed high reflectivity of very different from vitreous found in unaffected individuals. TD-OCT may be a useful adjunctive test to diagnose vitreous amyloidosis when masquerade syndromes are suspected. There may be more easeful imaging in TD-OCT of vitreous abnormalities than with spectral domain OCT (SD-OCT). Further study should be performed comparing TD versus SD-OCT in families with vitreous amyloidosis and TD vitreous amyloidosis versus TD in other intermediate uveitis.
Time Domain Optical Coherence Tomography in Familial Vitreous Amyloidosis Associated Transthyretin Met30 Mutation
From the Hospital Costa del Sol (ACC), Marbella, Malaga, Spain; The New York Eye & Ear Infirmary (PL, MLL, JPSG), Manhattan, New York; and Mid-Hudson Retina Consultants (AK), Newburgh, New York.
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to Paul Latkany MD, The New York Eye & Ear Infirmary, 225 E, 38th St, Manhattan, NY.
Accepted: October 18, 2009
Posted Online: March 09, 2010
The transthyretin (TTR) mutation, methionine for valine at position 30’ is the most common TTR gene mutation that causes familial amyloid polyneuropathy.1 Involvement of the vitreous body is associated with familial primary systemic amyloidosis,2 but can also occur rarely in primary non-hereditary forms of the disease.3 The amyloid deposits in the vitreous have been located in contact with the retina and retinal vessels through footplates and in the anterior vitreous in contact with the posterior lens surface.2 TD-OCT (Ophthalmic Technologies Inc. [OTI], Toronto, Ontario, Canada) for anterior segment, is specifically designed for imaging various conditions involving the anterior segment of the eye.4 Our objective was to demonstrate how TD-OCT imaging can be used to characterize the vitreous opacities in eyes with vitreous amyloidosis.
A 61-year-old man with no systemic complications or significant family history presented with a 2 year history of bilateral floaters associated with painless progressive decreased vision with more recent progression of his right eye (OD). His best-corrected visual acuity was 20/400 in his OD and 20/25 in his left eye (OS). Intraocular pressure was normal. Slit lamp examination of his right vitreous showed yellowish-white particles and cobweb appearing opacities (Fig. 1). Intense deposits of white “fluffy” material were noted on the right posterior lens surface (Fig. 2). Funduscopy showed vitreous opacities that were in a branching linear pattern that seemed to have arisen as a mirror of the pattern of blood vessels (Fig. 3). His OS had less than 1+ vitreous deposits. With a TD-OCT (OPKO®) both coronal (transversal, en face, C-scan) and cross-sectional (longitudinal, B-scan) sections were obtained, which showed high reflectance of the vitreous particles. We compared the same type of scan in an unaffected person vitreous and a reflectance-free vitreous was observed (Table).
Figure 1. Right Eye. Slit-Lamp Photograph Shows Meshwork of Linear Vitreous Opacities Attached to Posterior Lens Surface.
Figure 2. Right Eye. Slit-Lamp Photograph of Lens Focused on Posterior Lens Surface, Demonstrating Attachments of Vitreous Opacities.
Figure 3. Right Eye. Funduscopy, in the Left-Hand One-Third of the Field the Right Vitreous Body is Filled with Wavy Sheets of Glass Wool Appearance, Made up of Dull, Particles and Stringy, Fibrillar Material.
Table: TD-OCT in Vitreous Amyloidosis and Unaffected Vitreous
We performed a diagnostic 20-gauge pars plana vitrectomy on his OD, we first removed an undiluted dry vitreous’ sample through a syringe. Histopathological diagnosis confirmed the diagnosis of amyloid with Congo Red staining. Genetic testing revealed a TTR mutation, methionine for valine at position 30. Patient’s vision improved from 20/400 to 20/30 post vitrectomy. No systemic manifestations were found.
TTR is produced primarily in the liver, but also has some production in the choroid plexus. Production in the liver is felt responsible for peripheral and autonomic neuropathy and the choroid plexus is felt responsible for vitreous amyloid deposits. Amyloidosis can also affect the orbit, eyelid, lacrimal gland, conjunctiva, sclera, and cornea.5,6 Our patient’s diagnosis of masquerade syndrome occurred with both, genetic and histopathology diagnosis but without evidence of systemic disease.
Retinal surface features in systemic amyloidosis patients have been described with SD-OCT as needle-shaped deposits perpendicular to the retinal surface oriented toward the vitreous cavity.7 In our patient, TD-OCT showed the classic clinical characteristics of distribution of amyloid deposits in the vitreous, such as its location behind the posterior capsule of the lens forming dense lines and in anterior vitreous. The posterior lens capsule is normally hyper-reflective with the anterior vitreous, normally being non-reflective vitreous. TD-OCT is hyper-reflective from the apex of lens posterior capsule, this finding may be significant as an important aid in the differential diagnosis of masquerade syndromes. We envision OCT’s likely role as a preoperative assay to plan the necessary adjunctive tests, by a demonstration of regularly sized hyper-reflective particles attached to the posterior capsule.
There may be more easeful imaging with TD-OCT of vitreous abnormalities than with SD-OCT. Further study should be performed comparing TD vs SD-OCT in families (or series) with vitreous amyloidosis and TD vitreous amyloidosis vs TD in other intermediate uveitis. Also, OCT may be a useful adjunctive test to diagnose vitreous amyloidosis when masquerade syndromes are suspected.
- Terry CJ, Damas AM, Oliveira P, et al. Structure of Met30 variant of transthyretin and its amyloidogenic implications. EMBO J. 1993; 12:735–741.
- Hitchings RA, Tripathi RC. Vitreous opacities in primary amyloid disease. A clinical, histochemical, and ultrastructural report. Br J Ophthalmol. 1976;60:41–54. doi:10.1136/bjo.60.1.41 [CrossRef]
- Kasner D, Miller GR, Taylor WH, Sever RJ, Norton W. Surgical treatment of amyloidosis of the vitreous. Trans Am Acad Ophthalmol Otolaryngol. 1968;72:410–418.
- Garcia JP Jr, Garcia PM, Buxton DE, et al. Imaging through opaque corneas using anterior segment optical coherence tomography. Ophthalmic Surg Lasers Imaging. 2007;38:314–318.
- Murdoch IE, Sullivan TJ, Moseley I, et al. Primary localized amyloidosis of the orbit. Br J Ophthalmol. 1996;80:1083–1086. doi:10.1136/bjo.80.12.1083 [CrossRef]
- Ando E, Ando Y, Okamura R, Uchino R, Ando M, Negi A. Ocular manifestations of familial amyloidotic polyneuropathy type I: long term follow up. Br J Ophthalmol. 1997;81:295–298. doi:10.1136/bjo.81.4.295 [CrossRef]
- Hattori T, Shimada H, Yuzawa M, Kinukawa N, Fukuda T, Yasuda N. Needle-shaped deposits on retinal surface in a case of ocular amyloidosis. Eur J Ophthalmol. 2008;18:473–475.
TD-OCT in Vitreous Amyloidosis and Unaffected Vitreous
|Vitreous amyloidosis patient||Unaffected vitreous patient|
|Coronal optical coherence tomography|
|Coronal view at the level of the posterior lens capsule, shaped like a hyper-reflective ring; within the outside the ring is observed another hyper-reflectant ring thicker and less dense material that corresponds to hyper-reflectant amyloid deposits behind the posterior capsule||Coronal view at the level of the posterior lens capsule. Hyper-reflective point corresponding to the apex of posterior capsule.|
|Coronal optical coherence tomography|
|Coronal view behind posterior lens capsule. There is central hyper-reflective round homogenate corresponding to amyloid deposits vitreous behind the posterior capsule||Coronal view behind the posterior lens capsule, is observed reflectivity of the normal vitreous|
|Cross-sectional optical coherence tomography taken horizontally|
|Horizontal cross section of lens and posterior lens capsule. There is a first hyper-reflective area corresponding to the opacity of the lens, more posterior the other hyper-reflective fine line corresponds to the posterior capsule, the most posterior hyper-reflective area is accumulated amyloid protein||Horizontal cross section of lens and posterior lens capsule. There is an hyper-reflective area that corresponds to the apex of the posterior lens capsule|
|Cross-sectional scans taken vertically|
|The vertical cross section of the lens and posterior lens capsule. There is a first hyper-reflective area corresponding to the opacity of the lens back, the more posterior fine line is the posterior lens capsule, and the most posterior hyper-reflective area is vitreous amyloid||Vertical cross section of lens and posterior lens capsule. There is a small line hyper-reflective corresponding to apex of the posterior capsule of the lens.|