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Arch Ophthalmol. 2004;122:411-413.

Idiopathic juxtafoveal telangiectasis (IJFT) is a condition of uncertain etiology that is characterized by retinal telangiectasias, superficial retinal crystalline deposits, right-angle venules, and intraretinal pigment plaques. It is capable of causing visual loss in otherwise healthy patients, and treatment remains controversial. It was first described by Reese in 1956¹ and has subsequently been divided into 3 groups by Gass and Blodi.²

We describe a patient with IJFT and celiac sprue. To the best of our knowledge, this is the first reported case showing a potential association between these 2 conditions.

Report of a Case
A 53-year-old woman with biopsy-proved celiac sprue reported a 10-year history of blurred central vision in both eyes. Her medical history was otherwise unremarkable. She denied a history of diabetes and had a normal blood glucose level, but she declined a formal glucose tolerance test. Her medical regimen included a multivitamin, hormone replacement therapy (estrogen-medroxyprogesterone), and a gluten-free diet. Her family history included no relatives with similar visual loss.

Best-corrected visual acuity was 20/60 OD and 20/40 OS. Clinical examination showed clear media and symmetric optic discs. Macular edema and a perifoveal gray macular sheen were noted with apparent foveal thinning; no lipid or hemorrhage was present. A right-angle venule was noted in the temporal right macula (Figure 1).

View larger version (53K): [in this window] [in a new window] Figure 1. Color fundus photographs of the patient's right (A) and left (B) eyes showing the perifoveal gray macular sheen. A right-angle venule was noted in the temporal right macula.

Fluorescein angiography showed intraretinal telangiectasia with leakage for 340° in the right eye and nearly 360° surrounding the fovea in the left eye (Figure 2). Optical coherence tomography showed foveal thinning in both eyes with mild macular thickening (Figure 3).

View larger version (89K): [in this window] [in a new window] Figure 2. Fluorescein angiograms showing early and late frames of the right (A and B) and left (C and D) eyes. Note the perifoveal intraretinal telangiectasias with leakage in both eyes.

View larger version (111K): [in this window] [in a new window] Figure 3. Optical coherence tomograms of the right (A) and left (B) eyes showing bilateral thinning of the fovea with mild macular thickening.

Comment
Celiac sprue is characterized by malabsorption due to injury to the intestinal mucosa after ingestion of wheat gluten or related proteins. There is both clinical and histologic improvement on a strict gluten-free diet, and relapse occurs when dietary gluten is reintroduced.³ Until recently, celiac sprue was thought to be an uncommon condition in the United States, with an estimated prevalence of 1 in 3000. However, greater awareness of its manifestations and the advent of more accurate serologic tests have led to the realization that celiac sprue is relatively common, affecting approximately 1 of every 120 to 300 persons in North America.⁴

Celiac sprue is caused by an inappropriate T cell–mediated immune response against ingested gluten, causing damage to the intestinal mucosa, and the classic histologic finding of absent villi and hyperplastic crypts. There is a strong genetic component, with more than 95% of patients expressing the HLA-DQ2 heterodimer.⁵

Classically, celiac sprue is seen in infants with impaired growth and abdominal distention. The onset of symptoms is gradual, following the introduction of cereals into the diet. The condition is also increasingly being diagnosed in adults, in whom symptoms include diarrhea, flatulence, weight loss, and lactose intolerance. However, many patients have atypical symptoms or none at all.

To our knowledge, this case represents the first reported association between celiac sprue and IJFT. Although the concurrence of the 2 disorders may be coincidental, it may represent a previously unrecognized association, due to the historic underdiagnosis of celiac sprue by the medical community.

The underlying pathophysiologic characteristics of IJFT are still largely unknown. Green and associates⁶ studied the histologic features of a patient with group 2A IJFT and found thickened retinal capillaries with narrowed lumens. This was theorized to be a result of endothelial degeneration and regeneration, with increased basement membrane production, and secondary pericyte loss. Gass and Blodi² suggested that these might cause decreased metabolic exchange and increased endothelial permeability, thus leading to chronic nutritional damage to the juxtafoveal retinal cells.

Likewise, some studies suggest that the primary defect in celiac sprue may be an abnormally increased permeability of the intestinal epithelium. A preexisting permeability defect may trigger the expression of celiac sprue by allowing ingested gluten to cross the epithelial barrier and incite a pathologic immune reaction in genetically susceptible individuals.⁷

Thus, one possible explanation for an association between IJFT and celiac sprue is an underlying systemic permeability defect that is responsible for both increased gluten hypersensitivity in the gut and endothelial decompensation in the retina. As more patients with celiac sprue are identified, future investigations should disclose whether there is a true causal association between celiac sprue and IJFT.

AUTHOR INFORMATION

Henry C. Lee, MD; Mimi Liu, MD; Allen C. Ho, MD
Philadelphia, Pa

Corresponding author: Allen C. Ho, MD, Wills Eye Hospital, 840 Walnut St, Philadelphia, PA 19107 (e-mail: acho{at}att.net).

REFERENCES
1. Reese AB. Telangiectasis of the retina and Coats' disease. Am J Ophthalmol. 1956;42:1-8. PUBMED 2. Gass JDM, Blodi BA. Idiopathic juxtafoveolar retinal telangiectasis: update of classification and follow-up study. Ophthalmology. 1993;100:1536-1546. ISI | PUBMED 3. Trier JS. Celiac sprue. N Engl J Med. 1991;325:1709-1719. ISI | PUBMED 4. Not T, Horvath K, Hill ID, et al. Celiac disease risk in the USA: high prevalence of antiendomysium antibodies in healthy blood donors. Scand J Gastroenterol. 1998;33:494-498. FULL TEXT | ISI | PUBMED 5. Farrell RJ, Kelly CP. Celiac sprue. N Engl J Med. 2002;346:180-188. FREE FULL TEXT 6. Green WR, Quigley HA, De la Cruz Z, Cohen B. Parafoveal retinal telangiectasis: light and electron microscopy studies. Trans Ophthalmol Soc U K. 1980;100:162-170. ISI | PUBMED 7. DeMeo MT, Mutlu EA, Keshavarzian A, Tobin MC. Intestinal permeation and gastrointestinal disease. J Clin Gastroenterol. 2002;34:385-396. FULL TEXT | ISI | PUBMED

SECTION EDITOR: W. RICHARD GREEN, MD

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