Telangiectasia – October 2015

October 2015

Case History

A 76-year-old African American woman was sent for evaluation of an unknown maculopathy. She complained of blurry vision in her right eye over the past few years. She had a past medical history remarkable for well-controlled diabetes, hypertension and hyperlipidemia.

Her visual acuity was 20/60 in the right eye and 20/25 in her left with no afferent pupillary defect. Her intraocular pressures were 17 and 16. She had full motility and normal external examination. Slit lamp examination revealed mild nuclear sclerosis in both eyes.

Posterior Segment Examination

Examination demonstrated moderate drusen in the mid-periphery of both eyes. The right macula revealed a small crystalline-appearing yellow spot with adjacent white/yellow pigmentation (Figure 1). No drusen or pigment changes were noted in either fovea. There was a blunted foveal reflex in both eyes. There was mild vascular tortuosity in the para-foveal region in both eyes.

Figure1
Figure 1

Diagnostic Testing

Spectral domain optical coherence tomography (SD-OCT) revealed irregular hyper-reflectivity along with outer retinal defects in both eyes. The abnormalities were just temporal to the fovea in each eye (Figure 2, 3, 4).

Figure2
Figure 2
Figure3
Figure 3
Figure4
Figure 4

 

Fluorescein angiography (FA) revealed non specific leakage just temporal to the fovea in each eye with no signs of non-perfusion, choroidal neovascularization, or retinal angiomatous proliferation (Figure 5 & 6). The capillary vasculature also appeared irregular in the midframes of the FA.

Figure5
Figure 5
Figure6
Figure 6

 

Differential Diagnosis

  • Idiopathic juxtafoveolar telangiectasia
  • Diabetic Macular Edema
  • CNV Secondary to AMD
  • Retinal Angiomatous Proliferation
  • Pseudophakic CME
  • Lamellar/macular hole
  • Ocular ischemic syndrome
  • Crystalline retinopathy
  • Retinal vein occlusion
  • Radiation retinopathy
  • Eales disease
  • Coats disease

Diagnosis

Idiopathic juxtafoveolar telangiectasia

Discussion

Macular telangiectasia, also known as Idiopathic juxtafoveal telangiectasia (IJFT), is an uncommon disorder characterized by telangiectatic vessels in the juxtafoveolar region of one or both eyes.

According to Gass, IJFT can be divided into three groups based upon phenotype:

  • Type 1: Uncommon, congenital and unilateral.
  • Type 2: The most common of the three types. Usually bilateral and found in middle-aged or older patients. The term “Mac Tel” is often used to refer to Type 2.
  • Type 3: Very rare with bilateral involvement with minimal exudation. May be associated with systemic or cerebral disease.

Pathogenesis

Although unclear, the pathogenesis of IJFT may involve abnormalities in the parafoveal Muller cells rather than a primary abnormality of retinal capillaries. Muller cells are important for the health of the retinal capillary endothelium and the surrounding retina. It has been postulated the Muller cell dysfunction in IJFT Type 2 results in endothelial degeneration, which may lead to retinal capillary proliferation and telangiectasia. The superficial crystals seen in patients with IJFT Type 2 are thought to represent to footplates of degenerated Muller cells.

The outer retinal defects or ‘spaces’ seen on SD-OCT in IJFT Type 2 (Figure 3) likely represents tissue loss from retinal degeneration, specifically due to the dysfunction or loss of Muller cells, rather than fluid filled cystic spaces.

Treatment Options

Overall, treatment options for IJFT are limited. There have been many therapies investigated which are listed here:

  • Anti-vascular endothelial growth factor (Anti-VEGF) therapy has been shown to be effective in the treatment of the CNV associated with IJFT Type 2, causing a significant reduction in retinal thickness and a decrease in leakage on FA. However (and unfortunately) anti-VEGF does not appear to offer a functional benefit in patients with typical IJFT Type 2.
  • Oral carbonic anhydrase inhibitors were also shown to cause a significant reduction in retinal thickness, but did not significantly improve visual acuity.

Multiple other interventions have been tried, including focal grid laser, photodynamic therapy and intravitreal triamcinolone, with no clear improvement in either the systoid cavities or the visual acuity in patients with IJFT Type 2. Finding an effective treatment is important because the majority of patients with IJFT Type 2 can develop significant decline in vision over time. However, the vision decline is typically slower than patients with exudative macular degeneration.

References

Gass JD. Histopathologic study of presumed parafoveal telangiectasis. Retina 2000;20(2):226-7

Yannuzzi LA, Bardal AM, Freund KB, Chen KJ, Eandi CM, Blodi B. Idiopathic macular telangiectasia. Arch Ophthalmol 2006;124(4):450-60

Gass JD, Blodi BA. Idiopathic juxtafoveolar retinal telangiectasis. Update of classification and follow-up study. Ophthalmology 1993;100(10):1536-46

Powner MB, Gillies MC, Tretiach M, Scott A, Guymer RH, Hageman GS, Fruttiger M. Perifoveal muller cell depletion in a case of macular telangiectasia type 2. Ophthalmology 2010;117(12):2407-16

Gass JDM. Stereoscopic atlas of macular diseases: diagnosis and treatment. 4th ed. St. Louis: Mosby, 1997

Roller AB, Folk JC, Patel NM, Boldt HC, Russell SR, Abramoff MD, Mahajan VB. Intravitreal bevacizumab for treatment of proliferative and nonproliferative Type 2 idiopathic macular telangiectasia. retina 201;31(9):1848-55

Chen JJ, Sohn EH, Folk JC, Mahajan VB, Kay CN, Boldt HC, Russell SR. Decreased Macular Thickness in Nonproliferative Macular Telangiectasia Type 2 with Oral Carbonic Anhydrase Inhibitors. Retina IN PRESS; 2014.

Park DW, Schatz H, McDonald HR, Johnson RN. Grid laser photocoagulation for macular edema in bilateral juxtafoveal telangiectasis. Ophthalmology 1997;104(11):1838-48

De Lahitte GD, Cohen SY, Gaudric A. Lack of apparent short-term benefit of photodynamic therapy in bilateral, acquired, parafoveal telangiectasis without subretinal neovascularization. AM J Ophthalmol 2004;183(5):892-4

WordPress Video Lightbox