Title
BUTTERFLY-SHAPED PATTERN DYSTROPHY: CASE SERIES
Introduction
Butterfly-shaped pattern dystrophy (BPD) is part of a group of hereditary autosomal dominant macular diseases, related to mutations in the retinal degeneration slow (RDS)/peripherin gene. Due to its initial good visual prognosis, it is usually diagnosed in younger age and asymptomatic patients. However, central vision loss can occur by middle age. Clinically, it is characterizes by a bilateral accumulation of pigment at the level of retinal pigment epithelium (RPE), in the shape of the wings of a butterfly. Fundoscopically, yellow patches can be seen in the posterior pole. In addition to fundoscopy, fluorescein angiography and autofluorescence can be made to help diagnosys and to distinguish this condition from other pattern dystrophies of the macula and other prevalent diseases such as age-related macular degeneration.
Methods
Medical records review
Results
We report three cases of BPD in patients with 64, 75 and 86 years old. All of them were complaining of progressive visual acuity loss. They were all pseudophakics, had no pathological antecedents and best visual acuity (BVA) was 20/40. Retinal fundoscopic exam showed bilateral pigmented material at the macula in two of them. The third one had yellow flecks in the posterior pole. Fluorescein angiography demonstrated the hypofluorescent classic butterfly-shaped macular lesion, in which the flecks observed fundoscopically were blocking fluorescence.
Discussion
BPD is a chronic slow progressive disease, usually randomly diagnosed during routine examination. For this reason, most patients are asymptomatic at diagnose but over the years it can progress with visual acuity impairment. Although it was first suggested to be a benign condition, it is important to be aware of its complications such as macula failure due to RPE atrophy into the peripapillary region and/or choroidal neovascularization. Despite the absence of a specific treatment for that condition, complications can be managed properly in order to reduce visual loss.
Keywords
- Butterfly-shaped - Dystrophy - Macular dystrophy
Area
CLINICAL CASE
Authors
Gabriella Marranghello Mingione, Paulo Henrique Horizonte, Amanda Aranha Williams Castro, Andreia Novelli, Guilherme Daher G M Reis, Carolina Maria Barbosa Lemos, Tanaiara Silva Paganelli, André Marcelo V. Gomes