RESUMEN
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 mo dification and/or supplementation), we observed 143- and 117-mm 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.
RESUMO A atrofia girata é um distúrbio autossômico recessivo metabólico raro causado pela deficiência da enzima ornitina ami notransferase, que leva a achados degenerativos coriorretinianos progressivos característicos. Os pacientes queixam-se principalmente de baixa visão, cegueira noturna e perda de vi são periférica. A catarata subcapsular posterior, a miopia, a neovascularização da coróide e os cistos intrarretinianos podem ser fatores associados à perda da visão. Encontramos um paciente com perda de visão secundária à catarata subcapsular posterior e cistos intrarretinianos. Após o tratamento com brinzolamida tópica e nepafenaco (e sem modificação e/ou suplementação da dieta), observamos resoluções de espessura macular de 143 e 117 mm e com 2 e 1 linhas de Snellen de ganho visual nos olhos direito e esquerdo, respectivamente. Além disso, detectamos uma nova mutação homozigótica no gene da ornitina aminotransfera se: c.1253T>C (p.Leu418Pro). Inibidores da anidrase carbônica e/ou drogas anti-inflamatórias não esteróides podem controlar o edema macular em pacientes com cistos intrarretinianos associados à atrofia girata. As variantes genéticas também podem ser determinantes na responsividade ao tipo de terapia.
Asunto(s)
Humanos , Masculino , Adulto , Fenilacetatos/administración & dosificación , Inhibidores de Anhidrasa Carbónica/administración & dosificación , Atrofia Girata/genética , Antiinflamatorios no Esteroideos/administración & dosificación , Edema Macular/tratamiento farmacológico , Bencenoacetamidas/administración & dosificación , Ornitina-Oxo-Ácido Transaminasa/genética , Sulfonamidas/administración & dosificación , Tiazinas/administración & dosificación , Angiografía con Fluoresceína , Edema Macular/diagnóstico por imagen , Tomografía de Coherencia Óptica , Secuenciación de Nucleótidos de Alto Rendimiento , Administración Oftálmica , MutaciónRESUMEN
PURPOSE: To analyze, using optical coherence tomography, the macular thickness values of patient groups using nonsteroidal anti-inflammatory drug (NSAID) eye drops or artificial tears during uncomplicated cataract surgery. METHODS: A total of 77 eyes from 42 patients were analyzed. The patients were divided into three groups, each using one of the following ophthalmic sterile suspensions: nepafenac (21 eyes), propylene glycol (24 eyes), or ketorolac tromethamine (32 eyes). RESULTS: The mean macular thicknesses of the nepafenac group, preoperatively as well as at 1, 7, and 45 days postoperatively, were 216.42, 216.61, 222.47, and 218.28, respectively; those of the propylene glycol control group were 218.29, 214.50, 219.37, and 228.45, respectively; and those of the ketorolac tromethamine group were 217.46, 220.71, 225.25, and 228.46, respectively. There were no significant differences between groups at any time, with p-values of 0.971, 0.6742, 0.6711, and 0.327, respectively. CONCLUSION: During the study period, no significant differences in macular thickness were observed between the patient groups using two types of NSAIDs or between those groups and the control group that used propylene glycol, indicating that neither drug was superior to the other or the placebo. However, a slight macular thickening, without reduction of visual acuity, was observed in all groups.
RESUMEN
PURPOSE: To report the case of a 50-year-old woman with diabetes that presented with corneal melting and perforation 6 weeks after collagen cross-linking (CxL) for keratoconus (KC) and postoperative use of nepafenac eye drops, a nonsteroidal anti-inflammatory drug (NSAID). METHODS: This is a case report of a patient with diabetes, KC and a thin cornea that had undergone left eye corneal CxL at a different hospital followed by postoperative use of nepafenac eye drops for 6 weeks. RESULTS: The patient presented for the first time to our clinic with left corneal melting, perforation and iris prolapse 6 weeks after corneal CxL and topical nepafenac use. She was treated with a left eye tectonic penetrating keratoplasty, extracapsular cataract extraction, intraocular lens implantation and pupilloplasty. CONCLUSIONS: The corneal melting and perforation in this patient was associated with multiple risk factors: (1) nepafenac eye drop use, (2) CxL in a cornea thinner than 400 µm and (3) diabetes. The recommended corneal thickness limits should be respected. Topical NSAIDs should be used with caution if used as postoperative treatment after corneal CxL and in patients with diabetes, epithelial defect or delayed healing, because of the possible increased risk for corneal melting when multiple risk factors are observed.