© Springer Nature Switzerland AG 2021
C. S. Foster et al. (eds.)Uveitishttps://doi.org/10.1007/978-3-030-52974-1_4

4. Scleroderma

Arash Maleki1  
(1)
Massachusetts Eye Research and Surgery Institution, Waltham, MA, USA
 
Keywords
UveitisScleroderma
  • Definition

    • An autoimmune, multisystem connective tissue disease characterized by severe inflammation and excessive deposition of collagen and other intracellular materials in the skin and internal organs

    • Localized scleroderma: most common; patchy skin involvement

    • Systemic scleroderma: limited or diffuse
      • Limited form: formerly CREST syndrome

        • Calcinosis (calcium deposition in the skin)

        • Raynaud’s phenomenon

        • Esophageal dysmotility

        • Sclerodactyly (skin tightening of the fingers)

        • Telangiectasia (of the skin)

      • Diffuse form: most serious and life-threatening

        • Lungs, heart, and kidneys also involved with skin

    • Ocular involvement rare

      • Dry eyes, ocular surface changes, uveitis, glaucoma

  • Symptoms

    • Decreased vision

    • Redness

    • Itching, burning

    • Foreign body sensation

    • Tearing

    • Ocular pain

    • Photophobia

    • Floaters

  • Laterality

    • Bilateral, but can be asymmetric

  • Course

    • Chronic with high mortality rate in cases with extensive skin, pulmonary and renal involvement

    • Not typically progressive; disease may plateau

  • Age of onset

    • 35–55 years with peak incidence in the fifth decade

    • Pediatric form also exists

  • Gender/race

    • F:M = 3:1

    • Worldwide prevalence, more common in blacks than whites

  • Systemic association

    • Skin is always the first organ involved

    • Variable subsequent involvement of internal organs including lungs, kidneys, heart

Exam: Ocular

  • External

    • Skin tightness with lid eversion and blepharophimosis

    • Lid telangiectasia in 20% of patients

    • Extraocular myopathy

  • Anterior segment
    • Common findings:

      • Decreased tear meniscus and keratoconjunctivitis sicca

      • Subepithelial fibrosis, shortening of fornices

      • Conjunctival vascularization, vessel varicosities, telangiectasia, and loss of fine conjunctival vessels

    • Less common findings:

      • Scleral pits

      • Exposure keratopathy, peripheral ulcerative keratitis, pellucid marginal degeneration, keratomalacia

      • Iris transillumination defect

      • Anterior uveitis (granulomatous or non-granulomatous) rare

  • Posterior segment
    • Less common findings:

      • Vitritis

      • Glaucomatous and non-glaucomatous optic neuropathy

      • Retinal vein occlusion with retinal hemorrhage, cotton wool spots, parafoveal telangiectasia, and macular edema

      • Choroiditis resulting in patchy choroidal non-perfusion with secondary choriocapillaris and RPE atrophy

Exam: Systemic

  • Skin

    • Increased capillary size on nail fold points to systemic scleroderma

    • Symmetric painless swelling and thickening of fingers, hands, sometimes feet and ankles

    • Raynaud phenomenon

    • Skin atrophy, telangiectasia, and calcinosis are late signs

    • Reduced oral aperture due to perioral fibrosis

  • Internal organs

    • Kidney, lung, heart, and gastrointestinal systems can also be involved especially in diffuse systemic scleroderma

Imaging

  • OCT

    • Macular edema

    • RPE and choroidal atrophy

    • Thickened choroid during active choroiditis, as seen on enhanced depth imaging EDI-OCT

  • FA

    • Microvascular changes in retinal vasculature may lead to patches of hyper- and hypo-fluorescent areas

    • Retinal vein occlusion leading to retinal non-perfusion, telangiectasia, and macular leakage

  • ICG

    • Hypercyanescence, “hazy” choroidal vessels, indicates choroiditis

Laboratory and Radiographic Testing

  • Urinalysis

  • ANA (positive in 90%)

  • Scleroderma-specific ANAs

    • Anti-topoisomerase-1 and anti-SCL-70 Abs for diffuse systemic scleroderma

    • Anti-centromere Abs for limited systemic scleroderma

  • Chest X-ray

  • Barium swallow

Differential Diagnosis

  • Nephrogenic systemic fibrosis

  • Graft-versus-host disease

  • Porphyria cutanea tarda

  • Sjögren’s syndrome

  • Dermatomyositis

  • Diabetic cheiroarthropathy (limited joint mobility)

  • Eosinophilic fasciitis

Treatment

Systemic

  • Raynaud’s phenomenon

    • Dihydropyridine-type calcium channel blockers (e.g., nifedipine) and prostanoids (e.g., iloprost)

  • Gastrointestinal symptoms

    • Proton-pump inhibitors for acid reflux prevention

    • Prokinetics for dysmotility

    • Rotating antibiotics for bacterial overgrowth

  • Renal crisis

    • ACE inhibitors

  • Pulmonary hypertension

    • Endothelin receptor antagonists (bosentan)

    • Selective endothelin-A receptor antagonists (ambrisentan)

    • Phosphodiesterase inhibitors (sildenafil)

    • Intravenous prostacyclins (epoprostenol)

    • Cyclophosphamide for interstitial lung disease

Ocular

  • Dry eyes

    • Artificial tears, topical cyclosporine A, serum tears, and punctal occlusion

  • Lid lesions

    • Topical corticosteroid cream

  • Ocular myopathy

    • Oral corticosteroids

  • Uveitis

    • Appropriate topical, regional, or oral corticosteroid therapy for acute flares

    • Steroid sparing immunomodulatory therapy for chronic disease

      • Oral, SC, or IV antimetabolites, biologics

      • B cell depletion such as rituximab and BAFF (B-cell activating factor) blocking agents

      • Cyclosporine avoided due to renal toxicity

Referral/Co-management

  • Dermatology

  • Nephrology

  • Cardiology

  • Pulmonology