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Am J Ophthalmol. 2018 Apr;188:104-110. doi: 10.1016/j.ajo.2017.12.011. Epub 2017 Dec 27.

Peripheral Pigmented Retinal Lesions in Stargardt Disease.

Author information

1
W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan.
2
W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan; Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan.
3
W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan. Electronic address: thiran@med.umich.edu.

Abstract

PURPOSE:

To investigate the prevalence of peripheral pigmented retinal lesions and associated clinical findings in patients with Stargardt disease.

DESIGN:

Retrospective case series.

METHODS:

Records at a single academic institution were reviewed for patients with genetically confirmed Stargardt disease with peripheral pigmented retinal lesions on wide-field retinal imaging. For this cohort we described demographics, clinical features, and pathogenic variants.

RESULTS:

Out of 62 patients with Stargardt disease and wide-field retinal imaging, 14 had peripheral pigmented retinal lesions. These flat, subretinal lesions were located in the mid or far periphery and had well-defined borders, resembling congenital hypertrophy of retinal pigment epithelium (CHRPE) lesions. For this group of 14 patients, median age at initial diagnosis of Stargardt disease was 9.5 years, and the median duration of disease was 21.5 years. Median Snellen visual acuity was 20/200, and median central scotoma size was 20.0 degrees. All 14 patients had electroretinographic abnormalities. Four out of 14 patients developed new lesions during clinical follow-up.

CONCLUSIONS:

Wide-field retinal imaging revealed the presence of peripheral pigmented retinal lesions resembling CHRPE lesions in a subset of patients with genetically confirmed Stargardt disease. Presence of these lesions may be associated with severe phenotypes of the disease.

PMID:
29288030
PMCID:
PMC5994923
DOI:
10.1016/j.ajo.2017.12.011
[Indexed for MEDLINE]
Free PMC Article

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