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

Disclosures

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

In This Article

Epidemiology and Genetics

The percentage of sarcoidosis patients with eye involvement varies widely, with Fig. 2 revealing the prevalence reported by various international investigators. Obviously some of the variability may correspond to the underlying interest of the investigators as well as the diagnostic criteria utilized for ocular involvement. For example, one U.S. study found over 80% of sarcoidosis patients had evidence of ocular disease;[10] however, that study included patients with keratoconjunctivitis sicca, a symptom usually excluded in other studies.

Figure 2.

The reported prevalence of ocular disease in sarcoidosis patients from studies of patients residing in England,[88,89] Finland,[11,90] United States of America (USA),[23,26] and Japan.[2,11]

Overall a marked difference exists between the reported frequency for Japanese versus European and U.S. patients. When Pietinalho et al applied the same criteria for the diagnosis of ocular involvement in their Finnish and Japanese study populations, ocular disease was six times more frequently identified in Japan than in Finland (Fig. 2).[11]

Racial differences also influence the mode of presentation for ocular sarcoidosis. Japanese patients are more likely to present with eye symptoms than Scandinavian patients.[12] In the United States, African Americans are twice as likely to have ocular disease as Caucasian patients.[13] In the American study,[13] the criteria listed in Table 1 were used for defining eye disease.[5] However, in another study of American sarcoidosis patients, anterior uveitis was more common in African Americans, whereas Caucasians were more likely to develop posterior uveitis with a later disease onset.[14]

In the United States, females experience a higher frequency of ocular involvement, with the highest prevalence noted in African American females.[13] African American females are also more likely to present with adnexal granulomas,[10] which includes the adjacent structures of the eye such as the lacrimal apparatus, the extraocular muscles, and the eyelids, eyelashes, eyebrows, and conjunctiva (Fig. 3).[15]

Figure 3.

Ocular adnexal sarcoidosis affecting the adjacent structures of the eye including the eyelids, eyelashes, and eyebrows.

Although ocular sarcoidosis seems to occur in older patients, a high frequency of ocular disease is reported in childhood sarcoidosis. Although sarcoidosis rarely occurs in patients less than 15 years of age,[16] ocular disease and arthritis are major features in juvenile sarcoidosis.[17] In fact, the young patient with sarcoidosis will often be confused with a patient with Blau syndrome, a similar familial granulomatous disease in which the Blau gene has been identified. The Blau gene was not identified in a study of sarcoidosis patients.[18]

The genetics of ocular sarcoidosis offers some interesting insights. In one study, the presence of DRB1*0401 was associated with increased risk for ocular disease compared with age-, race-, and sex-matched controls.[19] In a multipoint linkage analysis of African American siblings with sarcoidosis, there was a significant logarithm of the odds (LOD) score for ocular/skin/joint involvement and chromosome 10q26 (LOD = 2.93, p = 0.001).[20] Additionally, in a study of heat shock protein polymorphisms, a strong association was reported between HSP-70/Hom rs2075800 G and uveitis in sarcoidosis patients.[21]

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