HLA-DR, DQ class II DNA typing in pediatric panuveitis and tubulointerstitial nephritis and uveitis

To describe chorioretinal lesions in pediatric uveitis that are associated strongly with the HLA-DR, DQ class II type associated with tubulointerstitial nephritis and uveitis (TINU).

Retrospective, observational case series.

University-based clinic.

Fifteen consecutive patients with onset of bilateral panuveitis at less than 16 years of age who were seen between September 2004 and October 2012 and 6 pediatric patients with confirmed TINU.

HLA-DR, DQ class II DNA typing.

Detection of the HLA-DRB1*01 and HLA-DQB1*05 risk alleles for TINU.

Fourteen (93%) of the 15 patients with otherwise unexplained pediatric panuveitis typed HLA-DRB1*01-HLA-DQB1*05. Eleven (73.3%) of 15 patients had bilateral sharply demarcated, usually inferior, 200- to 300-μm spots of chorioretinal atrophy, and 4 (27.7%) of 15 patients had bilateral clusters of 500- to 750-μm poorly defined orange choroidal lesions without overlying atrophy of the retinal pigment epithelium. None had interstitial nephritis. Four of the 6 definite TINU cases had class II typing and TINU risk alleles; all 6 had bilateral panuveitis. The frequency of risk alleles was statistically higher in those with pediatric panuveitis than in the North American population and in nonpanuveitis pediatric uveitis patients assumed to have the North American HLA distribution (P < .0001, Fischer exact test). Positive likelihood ratios were 9.92 to 5.18, depending on assumptions regarding pretest probability of disease.

Recognition of characteristic chorioretinal lesions in otherwise unexplained pediatric panuveitis, supported by selective HLA class II DNA typing, is useful in narrowing diagnostic possibilities and directing further evaluations. Panuveitis is underappreciated as a manifestation of TINU.