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A novel RPGR mutation masquerading as Stargardt disease
  1. Alexander G Bassuk1,
  2. Tharikarn Sujirakul2,
  3. Stephen H Tsang2,
  4. Vinit B Mahajan3
  1. 1 Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA
  2. 2 The Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, College of Physicians & Surgeons, Columbia University, New York, New York, USA
  3. 3 Department 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}

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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. …

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  • Contributors Design and conduct of the study, collection and management (AGB, TS, SHT, VBM), analysis and interpretation of the data and preparation, review, and approval of the manuscript (AGB, TS, SHT, VBM).

  • Competing interests VBM is supported by NIH grant K08EY020530 and Research to Prevent Blindness (New York, NY). The Bernard and Shirlee Brown Glaucoma Laboratory is supported by NIH core grants 5P30CA013696 and 5P30EY019007, unrestricted funds from Research to Prevent Blindness, New York, USA. SHT is a member of the RD-CURE Consortium and is supported by Tistou and Charlotte Kerstan Foundation, NIH R01EY018213, the Research to Prevent Blindness Physician-Scientist Award, the Barbara and Donald Jonas Family Fund, the Foundation Fighting Blindness New York Regional Research Center Grant (C-NY05-0705-0312), the Joel Hoffman Fund, Charles Culpeper Scholarship, Irma T Hirschl Charitable Trust, Gebroe Family Foundation.

  • Ethics approval Columbia University IRB.

  • Provenance and peer review Not commissioned; externally peer reviewed.