Scleral Compromise in Hereditary Porphyria Cutanea Tarda

Abstract

Purpose: To report a case of bilateral scleral compromise in a male patient with hereditary porphyria cutanea tarda (PCT).

Methods: Case report.

Results: A 57-year-old male was referred to the Cornea Service at Hospital de Clinicas in Buenos Aires for bilateral scleral thinning. He claimed ocular discomfort and photophobia. Slit-lamp biomicroscopy revealed an oval area of deep scleral thinning without uveal prolapse, adjacent to a conjunctival hyperemic zone in the interpalpebral area, 2 mm temporal to the limbus in the right eye. The left eye presented with a conjunctivalized scleral thinning in the interpalpebral area, 2 mm temporal to the limbus. Physical examination revealed facial hyperpigmentation and hypertrichosis and multiple hypopigmented scars in hands and nails. His family history was positive for PCT. The diagnosis was made by urine porphyrin test and genetic molecular testing. In an attempt to reduce ocular and systemic levels of porphyrins, the patient was treated with oral hydroxychloroquine and repeated phlebotomies, altogether with specially designed glasses to avoid local exposure to sunlight.

Conclusions: Scleral involvement is a rare manifestation of PCT. An adequate treatment, including interdisciplinary management may ameliorate ocular signs and symptoms.

Keywords: Eye protective devices; Porphyria; Porphyria cutanea tarda; Porphyria cutanea tarda/diagnosis; Scleral diseases.

Figure 1

(a) Right eye shows an oval area of deep scleral thinning without uveal prolapse, adjacent to conjunctival hyperemic zone in the interpalpebral area. (b) Left eye shows an area of conjunctivalized thinned scleral in the interpalpebral area

Figure 2

Hyperpigmentation and hypertrichosis on the face

Figure 3

Multiples hypopigmented scars on the skin dorsum hand

Figure 4

(a and b) Improvement of scleral lesions in both eyes at the last follow-up visit