Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Mar 26;33(1):91-94.
doi: 10.4103/JOCO.JOCO_119_20. eCollection 2021 Jan-Mar.

Scleral Compromise in Hereditary Porphyria Cutanea Tarda

Eugenia Andrea Paez Soria  1 , Federico Andres Cremona  1 , Francisco Lucero Saá  1 , Pablo Chiaradía  1
Affiliations
Case Reports

Scleral Compromise in Hereditary Porphyria Cutanea Tarda

Eugenia Andrea Paez Soria et al. J Curr Ophthalmol. .

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.

PubMed Disclaimer

Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
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
Figure 2
Hyperpigmentation and hypertrichosis on the face
Figure 3
Figure 3
Multiples hypopigmented scars on the skin dorsum hand
Figure 4
Figure 4
(a and b) Improvement of scleral lesions in both eyes at the last follow-up visit
See this image and copyright information in PMC

References

    1. Franzon VA, Mikilita ES, Camelo FH, Camargo R. Porphyria cutanea tarda in a HIV-positive patient. An Bras Dermatol. 2016;91:520–3. - PMC - PubMed
    1. Hammer H, Korom I. Photodamage of the conjunctiva in patients with porphyria cutanea tarda. Br J Ophthalmol. 1992;76:592–3. - PMC - PubMed
    1. Park AJ, Webster GF, Penne RB, Raber IM. Porphyria cutanea tarda presenting as cicatricial conjunctivitis. Am J Ophthalmol. 2002;134:619–21. - PubMed
    1. Gogri PY, Misra NS, Misra S. Ocular manifestations in porphyria cutanea tarda. BMJ Case Rep 2014. 2014 bcr2013010402. doi: 10.1136/bcr-2013-010402. - PMC - PubMed
    1. Meyer UA. Porphyria. In: Braunwald E, Issebacher KJ, Petersdorf RG, Wilson JD, Martin JB, Fauci AS, editors. Harrison's Principles of Internal Medicine. 13th ed. McGraw-Hill: New York NY; 1994. pp. 2073–9.

Publication types