Article Text

other Versions

PDF
Letter
A novel RPGR mutation masquerading as Stargardt disease
  1. Alexander G Bassuk1,
  2. Tharikarn Sujirakul2,
  3. Stephen H Tsang2,
  4. Vinit B Mahajan3
  1. 1Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA
  2. 2The Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, College of Physicians & Surgeons, Columbia University, New York, New York, USA
  3. 3Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA
  1. Correspondence to Dr Vinit B Mahajan, Department of Ophthalmology and Visual Sciences, The University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA; mahajanlab{at}gmail.com

Statistics from Altmetric.com

Introduction

An adult male was referred for a second opinion of his retinal dystrophy. His prior genetic testing identified an ABCA4 gene variant associated with Stargardt disease. He had an affected younger brother, and the rest of his family was reported to be asymptomatic. He wanted to know if he would qualify for any Stargardt gene or stem cell therapy trials.

Case description

The adult male proband (III:A) experienced blurred central vision, nyctalopia and photophobia since childhood. His best-corrected visual acuity was 20/100 and 20/200, respectively. Fundus examination demonstrated a bull's eye maculopathy and peripapillary atrophy (figure 1). There was no intraretinal pigmentary migration, pisciform flecks, optic disc pallor or retinal vessel attenuation. Fundus autofluorescence revealed a prominent bull's eye pattern. Spectral domain optical coherence tomography showed foveal thinning (figure 2). These findings were not inconsistent with a cone dystrophy such as Stargardt Group II disease.

Figure 1

Clinical Imaging. (A–F) Proband (III:1). Colour fundus images showed perifoveal pigment atrophy in a bull's eye pattern that was pronounced in autofluorescent imaging. SD-OCT revealed foveal thinning (arrows), loss of outer plexiform layer, ellipsoid and interdigitation line in both eyes with preservation of this structure outside macular. (G–L) Affected Brother (III:3). A similar bull's eye pattern with marked RPE atrophy was also observed in colour fundus, autofluorescent and SD-OCT images. …

View Full Text

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.