Relapsing polychondritis (RP) is a rare, recurrent, and often progressive multisystem autoimmune disorder characterized by destructive inflammation of cartilaginous and connective tissues in many organs. Initially described in 1923 as a polychrondropathy, [1] the episodic nature of the inflammatory events ultimately lead to its characterization as relapsing polychondritis in 1960 by Pearson et al. [2] The pathogenesis remains largely unknown, and the diagnosis is usually made based on the presence of chondritis in two of three anatomic sites (auricular, nasal, laryngotracheal). Alternatively, patients may meet criteria by one of the aforementioned and two additional features such as ocular inflammation, audiovestibular damage, or seronegative arthritis [3]. As the manifestations are unusual and there is no confirmatory blood study, early diagnosis can be difficult but crucial to avoid severe life-threatening complications such as renal failure or laryngotracheal collapse [4]. In 1986, the 5 and 10 year survival rates after diagnosis was 74 and 55 %, respectively [5]. Advances in awareness, treatment options, and improved management of complications since that initial study have increased survival to a reported 94 % at 8 years in 1998 [6].

RP is a very rare condition, with a reported incidence of 3.5 cases per million worldwide [3]. It is most commonly diagnosed in middle age, usually between 40–50 years of age; however, it can appear in childhood and as late as during the eighth decade [5, 7]. There is a male to female ratio of approximately 1:3, and it affects all ethnic groups, however there have been reports of predominance in Caucasian populations [8, 9].

As ocular manifestations are common in patients with RP, ophthalmologists can play a significant role in diagnosis. Ocular involvement has been reported in 60–70 % of cases, with episcleritis (39 %) and scleritis (14 %) representing the most common manifestations [10]. Other ocular manifestations include uveitis, exudative retinal detachment, chorioretinitis, ocular muscle paresis, optic neuritis, and peripheral ulcerative keratitis [10, 11]. Importantly, up to a third of patients with RP present with ocular symptoms, which may be a marker of disease severity as patients with ocular involvement tend to develop multisystem manifestations [6, 10–12].

In those who develop uveitis, nongranulomatous iritis is the most common manifestation, reported in up to 22 % of RP patients [5, 10]. This may occur independently or concomitantly with scleritis (as a sclerouveitis) [13, 14]. Dense cyclitic membranes and hypopyon have also been reported as sequelae of severe intraocular inflammation [15–17]. Several case reports have described posterior uveitis and panuveitis although these are exceedingly rare [18, 19].

There are no specific laboratory tests for the diagnosis of RP. Antibodies to type II collagen are elevated in the acute phase of RP and have been shown to correlate with disease activity [20–23]. Antibodies to type IX and XI collagen have also been described, however they generally lack sensitivity and specificity. Serologic testing for the presence of antinuclear antibodies (ANA), anti-neutrophil cytoplasmic antibodies (ANCA), rheumatoid factor, or complement levels can suggest the presence of concomitant autoimmune or inflammatory disorders, but are generally unhelpful in the diagnosis of RP [24, 25].

Laboratory investigation can be used to assist in following the course of the disease, most notably during an acute flare. Anemia, leukocytosis, thrombocytosis, and elevated ESR are often seen during the active phase [10, 26].

Given the rarity of RP, there is a general lack of randomized clinical trials to confirm the efficacy and optimal dosing of treatment regimens used in patients with RP. Most data is anecdotal with treatment generally being empiric and titrated according to disease activity. Furthermore, it must be noted that treatment for the ocular manifestations of RP often overlaps with treatment of other systemic involvement.

Patients with mild ocular disease including episcleritis, mild scleritis, and iritis can respond well to topical corticosteroids which may also be combined with systemic nonsteroidal anti-inflammatory drugs (NSAIDs). Patients with more severe evidence of ophthalmic involvement such as peripheral ulcerative keratitis, nodular and necrotizing scleritis typically require systemic corticosteroids (prednisone 1 mg/kg daily) and/or more potent cytotoxic agents such as methotrexate, azathioprine, mycophenolate mofetil, cyclophosphamide, and TNF-alpha inhibitors (adalimumab and infliximab) [27–29].

Immunomodulatory agents are often needed in patients with signs of systemic vasculitis or those who develop resistance to or chronic dependence on systemic steroids to remain clinically stable. Methotrexate, although contraindicated in patients with hepatic impairment, is considered effective at treating those with RP associated ocular inflammation. A starting dose of Methotrexate typically 7.5–10 mg/week is used, which can be titrated up to 25 mg/week as dictated by disease activity [30]. Infliximab, an anti-TNF-alpha agent has been reported to be effective in patients with refractory RP, especially in those with necrotizing scleritis refractory to treatment with methotrexate.

RP continues to be an elusive autoimmune disease characterized by recurrent inflammatory episodes of cartilaginous tissue. Given the numerous typical and atypical presentations, combined with the rarity of the disorder, the correct diagnosis is often delayed. Ocular manifestations of disease such as episcleritis and scleritis are common while uveitis is more uncommon. Although extensive case reports and case series of RP are available in the literature, there is still limited data regarding its pathogenesis and optimal treatment in patients with uveitis. Topical and systemic corticosteroids continue to be the mainstay of treatment, with steroid-sparing agents available for patients requiring long-term management. Continued multicenter studies are warranted in order to establish a logical treatment approach and guidelines.