Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation
Arquivos Brasileiros de Oftalmologia, cilt.83, sa.2, ss.149-152, 2020 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 83 Sayı: 2
- Basım Tarihi: 2020
- Doi Numarası: 10.5935/0004-2749.20200028
- Dergi Adı: Arquivos Brasileiros de Oftalmologia
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, Directory of Open Access Journals
- Sayfa Sayıları: ss.149-152
- Anahtar Kelimeler: Brinzolamida, Edema macular, Genes, Mutacao, Nepafenaco, Ornitina, Transaminases
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Gyrate atrophy is a rare metabolic autosomal recessive disorder caused by ornithine aminotransferase enzyme deficiency that leads to characteristic progressive, degenerative chorioretinal findings. Patients complain mostly of low vision, night blindness, and peripheral vision loss. Posterior subcapsular cataract, myopia, choroid neovascularization, and intraretinal cysts may be accompanying factors related to vision loss. We encountered a patient with vision loss secondary to posterior subcapsular cataract and intraretinal cysts. After treatment with topical brinzolamide and nepafenac (and without any diet modification and/or supplementation), we observed 143-and 117-μm macular thickness resolutions with 2 and 1 Snellen lines of visual gain in his right and left eyes, respectively. Also, we detected a novel homozygous mutation in the ornithine aminotransferase gene: c.1253T>C (p. Leu418Pro). Carbonic anhydrase inhibitors and/or non-steroid anti-inflammatory drugs can control macular edema in patients with gyrate atrophy-associated intraretinal cysts. The genetic variants may also be a determinant in the responsiveness to the therapy type.