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.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Zhao PY,Abalem MF,Nadelman D,Qian CX,Branham K,Schlegel D,Khan N,Heckenlively JR,Jayasundera Tdoi
10.1016/j.ajo.2017.12.011subject
Has Abstractpub_date
2018-04-01 00:00:00pages
104-110eissn
0002-9394issn
1879-1891pii
S0002-9394(17)30540-8journal_volume
188pub_type
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journal_title：American journal of ophthalmology
pub_type： 杂志文章
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更新日期：2006-07-01 00:00:00
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journal_title：American journal of ophthalmology
pub_type： 临床试验,杂志文章,随机对照试验
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