Combinación de la anhidrasa carbónica tópica y sistémica en el tratamiento de la retinosquisis ligada al cromosoma X
- Rocha Cabrera, Pedro
- Pareja Ríos, Alicia Cristina
- Cordovés Dorta, L. M.
- Mantolán Sarmiento, C.
- Serrano García, Miguel Ángel
ISSN: 0365-6691
Year of publication: 2014
Volume: 89
Issue: 8
Pages: 320-323
Type: Article
More publications in: Archivos de la Sociedad Española de Oftalmologia
Abstract
Case report A 17 year-old male patient, who since 2000 has referred to a progressive bilateral decrease in visual acuity. A «bicycle wheel» macula pattern was observed in his retina. The electroretinogram showed a decrease in the b-wave amplitude. The visual evoked potentials were normal. Optical coherence tomography showed bilateral macular edema. All this supported the diagnosis of X-linked retinoschisis. Discussion Genetic counseling was given and the pattern of X-linked inheritance was explained. A significant improvement of the macular thickness was observed after treatment with topical dorzolamide and oral acetazolamide.