Idiopathic Juxtafoveal Telangiectasis in Association With Celiac Sprue

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

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

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

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

Fluorescein angiography showed intraretinal telangiectasia with leakagefor 340° in the right eye and nearly 360° surrounding the fovea inthe left eye (Figure 2). Opticalcoherence tomography showed foveal thinning in both eyes with mild macularthickening (Figure 3).

Celiac sprue is characterized by malabsorption due to injury to theintestinal mucosa after ingestion of wheat gluten or related proteins. Thereis both clinical and histologic improvement on a strict gluten-free diet,and relapse occurs when dietary gluten is reintroduced.³ Untilrecently, celiac sprue was thought to be an uncommon condition in the UnitedStates, with an estimated prevalence of 1 in 3000. However, greater awarenessof its manifestations and the advent of more accurate serologic tests haveled to the realization that celiac sprue is relatively common, affecting approximately1 of every 120 to 300 persons in North America.⁴

Celiac sprue is caused by an inappropriate T cell–mediated immuneresponse 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 expressingthe HLA-DQ2 heterodimer.⁵

Classically, celiac sprue is seen in infants with impaired growth andabdominal distention. The onset of symptoms is gradual, following the introductionof cereals into the diet. The condition is also increasingly being diagnosedin adults, in whom symptoms include diarrhea, flatulence, weight loss, andlactose intolerance. However, many patients have atypical symptoms or noneat all.

To our knowledge, this case represents the first reported associationbetween celiac sprue and IJFT. Although the concurrence of the 2 disordersmay 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 largelyunknown. Green and associates⁶ studiedthe histologic features of a patient with group 2A IJFT and found thickenedretinal capillaries with narrowed lumens. This was theorized to be a resultof endothelial degeneration and regeneration, with increased basement membraneproduction, and secondary pericyte loss. Gass and Blodi² suggestedthat these might cause decreased metabolic exchange and increased endothelialpermeability, thus leading to chronic nutritional damage to the juxtafovealretinal cells.

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

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

Corresponding author: Allen C. Ho, MD, Wills Eye Hospital, 840 WalnutSt, Philadelphia, PA 19107 (e-mail: acho@att.net)