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- Title
Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation.
- Authors
Çavdarlı, Cemal; Şahlı, Esra; Çavdarlı, Büşranur; Alp, Mehmet Numan
- Abstract
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.
- Subjects
RETINAL vein occlusion; PERIPHERAL vision; LOW vision; CARBONIC anhydrase inhibitors; EDEMA; ENZYME deficiency; BLOOD coagulation factor XIII
- Publication
Arquivos Brasileiros de Oftalmologia, 2020, Vol 83, Issue 2, p149
- ISSN
0004-2749
- Publication type
Article
- DOI
10.5935/0004-2749.20200028