BOWMAN’S LAYER DYSTROPHY WITH IRIDO-FUNDAL COLOBOMA IN THE SAME PATIENT: A CASE REPORT

• Autor(a) principal: Mota, Mafalda Sofia Benavente
• Data de Publicação: 2017
• Outros Autores: Pedrosa, Catarina, Silva, Diana, Pires, Graça, Pêgo, Peter, Vendrell, Cristina, Prieto, Isabel
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://doi.org/10.48560/rspo.9994
• topic: Comunicações Curtas e Imagens em Oftalmologia

Introduction: The corneal dystrophies are rare corneal diseases, defined as bilateral, symmetric and inherited conditions. Ocular coloboma is a congenital defect caused by embryogenesis imperfection, during the sixth week of development. Purpose: The authors report the first clinical case in literature of the association of cornea dystrophy and irido-fundal coloboma. Case report: The authors describe the case of a 34-year-old woman, with decrease visual acuity (VA) in the right and left eyes (RLE). She has had an ocular illness since young, with corneal erosions. Her family members also have alterations in the cornea, her father has held a bilateral corneal transplant. Ophthalmic examination showed a best-corrected visual acuity (BCVA) of 20/40 in the RE and 20/100 in the LE. Biomicroscopy showed an inferior iris coloboma in the LE. A deposition of reticular/granular substance in the Bowman’s layer was observed in both eyes, sparing the limbal portion, compatible with a corneal dystrophy. Fundus examination showed a coloboma in the LE that involves the inferior retina and the optic nerve, no changes in the RE fundus was observed. She started treatment with ocular lubrificant preservative-free eyedrops. The patient has remained stable within 1-year follow-up. Conclusions: This is the first case report of the association of cornea dystrophy and irido-fundal coloboma. The greater decrease in VA in the LE appears to be due to the combination of these two entities in this eye. Despite the Bowman’s layer dystrophy has an autosomal dominant pattern, coloboma seems to have been an acquired change.