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Scleral Compromise in Hereditary Porphyria Cutanea Tarda

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 di...

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Autores principales: Paez Soria, Eugenia Andrea, Cremona, Federico Andres, Lucero Saá, Francisco, Chiaradía, Pablo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8102938/
https://www.ncbi.nlm.nih.gov/pubmed/34084964
http://dx.doi.org/10.4103/JOCO.JOCO_119_20
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author Paez Soria, Eugenia Andrea
Cremona, Federico Andres
Lucero Saá, Francisco
Chiaradía, Pablo
author_facet Paez Soria, Eugenia Andrea
Cremona, Federico Andres
Lucero Saá, Francisco
Chiaradía, Pablo
author_sort Paez Soria, Eugenia Andrea
collection PubMed
description 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.
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spelling pubmed-81029382021-06-02 Scleral Compromise in Hereditary Porphyria Cutanea Tarda Paez Soria, Eugenia Andrea Cremona, Federico Andres Lucero Saá, Francisco Chiaradía, Pablo J Curr Ophthalmol Case Report 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. Wolters Kluwer - Medknow 2021-03-26 /pmc/articles/PMC8102938/ /pubmed/34084964 http://dx.doi.org/10.4103/JOCO.JOCO_119_20 Text en Copyright: © 2021 Journal of Current Ophthalmology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Paez Soria, Eugenia Andrea
Cremona, Federico Andres
Lucero Saá, Francisco
Chiaradía, Pablo
Scleral Compromise in Hereditary Porphyria Cutanea Tarda
title Scleral Compromise in Hereditary Porphyria Cutanea Tarda
title_full Scleral Compromise in Hereditary Porphyria Cutanea Tarda
title_fullStr Scleral Compromise in Hereditary Porphyria Cutanea Tarda
title_full_unstemmed Scleral Compromise in Hereditary Porphyria Cutanea Tarda
title_short Scleral Compromise in Hereditary Porphyria Cutanea Tarda
title_sort scleral compromise in hereditary porphyria cutanea tarda
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8102938/
https://www.ncbi.nlm.nih.gov/pubmed/34084964
http://dx.doi.org/10.4103/JOCO.JOCO_119_20
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