Robert P. Baughman, M.D.; Elyse E. Lower, M.D., Ph.D.; Adam H. Kaufman, M.D.


Semin Respir Crit Care Med. 2010;31(4):452-462. 

In This Article

Diagnosis of Ocular Sarcoidosis

The diagnosis of ocular sarcoidosis depends on patient presentation. For all patients with known extraocular sarcoidosis, a detailed eye examination is recommended.[7] The criteria for definite or probable ocular disease are given in Table 1.

The diagnostic evaluation of a symptomatic patient depends on the patient's presentation, with uveitis the most common patient complaint. Because the differential diagnosis as noted in Table 5 includes infectious, noninfectious, and idiopathic causes, a detailed evaluation is necessary. The infections toxoplasmosis and tuberculosis must always be considered.[8] Of the noninfectious causes, idiopathic is the most commonly reported etiology.[47] However, the classification of "idiopathic" remains a diagnosis of exclusion; hence evaluation for other diseases is usually performed. Using a multidisciplinary approach to evaluate ~2000 patients with uveitis, a specific entity was diagnosed in only half of the cases.[4]

Specific interest has focused on the efficacy of evaluating lung disease in the patient who presents with uveitis and no pulmonary symptoms. Investigators in Japan who studied patients with ocular findings supporting sarcoidosis confirmed in a significant number of cases the diagnosis of sarcoidosis with transbronchial biopsy (TBB).[49] Although the presence of bilateral hilar adenopathy strongly supports the diagnosis,[8] the value of performing chest tomography scans in uveitis patients remains unclear. In one study of Japanese patients, abnormal high-resolution computed tomography (HRCT) findings were associated with a positive TBB in 19 of 20 patients, whereas a positive TBB was detected in only one of 19 patients with no parenchymal disease on HRCT.[6] In a European study of HRCT evaluation in uveitis patients, only 10 of 50 (20%) exhibited findings on HRCT consistent with sarcoidosis. Increasing age, the presence of peripheral multifocal chorioretinitis, or posterior synechiae were significantly associated with a positive HRCT scan.[50]

The use of BAL to support the diagnosis of sarcoidosis is less clear. In Japan, most patients with uveitis and BAL lymphocytosis without another cause were considered to have sarcoidosis.[49] Increased BAL lymphocytes without another explanation is considered supportive of the diagnosis of sarcoidosis in patients with interstitial lung diseases.[51] Interestingly in the Japanese study, BAL lymphocytosis was identified with equal frequency in patients with or without an abnormal HRCT. Others have also reported increased BAL lymphocytes useful in supporting the diagnosis of ocular sarcoidosis.[52] However, because some uveitis patients with increased lymphocytes did not subsequently develop lung disease,[53] lymphocytosis in the BAL may be a measure of systemic immune response and not necessarily sarcoidosis. Perhaps the passage of time will remain one of the most important features for the diagnosis of sarcoidosis.[48] In our experience, the specific diagnosis of sarcoidosis may become apparent in some cases based on diagnostic confirmation of other organ involvement at a later time.