Sight threatening complications in porphyria cutanea tarda


The porphyrias are a group of disorders of haem metabolism with deficiency in the enzymes of the haem biosynthetic pathway resulting in excess porphyrin production.1 Porphyria cutanea tarda (PCT) is the most common of eight subtypes with a predilection among black Southern Africans.1 Clinical manifestations are predominantly dermatological with photoactive porphyrins depositing in the skin causing bullae, hyper- and hypo-pigmentation, pseudoscleroderma, and hypertrichosis in sun-exposed areas.2 Sight-threatening ocular manifestations are rare and we describe a case of PCT presenting with corneal perforation and scleromalacia perforans.

A 54-year-old black female presented with a 6-week history of pain and loss of vision in the right eye, and progressive darkening and coarseness of her skin.

Examination revealed dark skin and sclerodermatous-like facial features (Figure 1). Visual acuity was hand movements right and 6/5 left. There were bilateral, symmetrical areas of punched out scleral thinning with choroidal show temporally in the interpalpebral fissures. The sclera was moderately inflamed in the right with a thin cornea, central perforation, and flat anterior chamber (Figure 2).

Figure 1

Sclerodermatous features in porphyria cutanea tardia.

Figure 2

Perforated right cornea and bilateral scleromalacia.

She had a tender hepatomegally and no systemic features suggestive of collagen-vascular disease.

Urine porphyrins were 14 035 nmol/l, serum iron 58.3 μmol and ferritin 1790 ng/l confirming a diagnosis of PCT and iron overload.

Treatment included oral prednisolone 60 mg daily and cyclosporine 2% drops QDS, avoiding topical steroids because of the risk of scleral perforation. Oral steroids were tapered and topical cyclosporine and lubricants continued. There has been steady improvement in scleral thickness and no sign of disease progression. The right eye is comfortable with a sclerosed cornea. She has undergone serial phlebotomy and is avoiding alcohol and sun exposure.

PCT is a hepatic porphyria characterised by deficient uroporphyrinogen decarboxylase activity and may be autosomal dominantly inherited or may occur sporadically.1 The predilection in black Southern Africans may be due to the increased incidence of haemochromatosis caused by ingestion of traditional tribal beer brewed in iron pots.1 Hereditary PCT is characterised by enzyme deficiency in all tissues while in acquired PCT, the deficiency is isolated to the liver and may be precipitated by external factors like iron overload, alcohol, and oestrogens.

Ocular manifestations are caused by deposition of photoactive porphyrins in ocular tissues with lid scarring, ectropion, lacrimal scarring, scleromalacia, and corneal thinning described.3, 4, 5, 6, 7

Treatment involves avoidance of precipitating factors and UV exposure, while success has been achieved with phlebotomy and iron chelating agents.


  1. 1

    Berkow R, Fletcher AJ . Merck Manual of Diagnosis and Therapy, 16th ed. Merck Research Laboratories: Whitehouse Station, New Jersey, USA 1992, pp 1026–1038.

    Google Scholar 

  2. 2

    Grossman ME, Bickers DR, Poh-Fitzpatrick MB, Deleo VA, Harber LC . Porphyria cutanea tarda. Clinical features and laboratory findings in forty patients. Am J Med 1979; 67: 277–281.

    CAS  Article  Google Scholar 

  3. 3

    Salmon JF, Strauss PC, Todd GT, Murray AD . Acute scleritis in porphyria cutanea tarda. Am J Ophthalmol 1990; 109: 400–406.

    CAS  Article  Google Scholar 

  4. 4

    Hammer H, Korom I . Photodamage of the conjunctiva in patients with porphyria cutanea tarda. Br J Ophthalmol 1992; 76: 592–593.

    CAS  Article  Google Scholar 

  5. 5

    Park AJ, Webster GF, Penne RB, Raber IM . Porphyria cutanea tarda presenting as cicatricial conjunctivitis. Am J Ophthalmol 2002; 134: 619–621.

    Article  Google Scholar 

  6. 6

    Sevel D, Burger D . Ocular involvement in cutaneous porphyria. Arch Ophthalmol 1971; 85: 580–585.

    CAS  Article  Google Scholar 

  7. 7

    Sober AJ, Grove AS, Muhlbauer JE . Cicatricial ectropion and lacrimal obstruction associated with the sclerodermoid variant of porphyria cutanea tarda. AM J Ophthalmol 1981; 91: 396–400.

    CAS  Article  Google Scholar 

Download references

Author information



Corresponding author

Correspondence to A G Zaborowski.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Zaborowski, A., Paulson, G. & Peters, A. Sight threatening complications in porphyria cutanea tarda. Eye 18, 949–950 (2004).

Download citation

Further reading