Original articleA Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations
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Patients and Methods
A cohort of 59 patients with a clinical diagnosis of Stargardt disease and a minimum of 7 years of follow-up were ascertained at Moorfields Eye Hospital. All patients were first diagnosed between 1997 and 2000, with the latest examinations performed between 2009 and 2011. The baseline clinical and electrophysiologic characteristics of 33 of these 59 patients have been previously reported.31 The panel included 5 sibships (4 sibling pairs and 1 set of 3 siblings). Informed consent was obtained
Clinical Findings
Fifty-nine patients, 31 female (52%, 31/59) and 28 male (48%, 28/59), were included in the study. All complained of central visual loss with a median age of onset of 20.8 years (range, 5-48 years) and a median duration of disease of 10.9 years (range, 0-31 years). The median ages at baseline and at follow-up were 31.7 and 42.2 years (range, 8-64 and 20-73 years), respectively. The mean follow-up interval was 10.5 years (range, 7-13 years). Seven patients (12%, 7/59) presented before 16 years of
Discussion
This report addresses longitudinal changes in clinical and electrophysiologic features of Stargardt disease in a large, well-characterized cohort of patients, with 1 or both likely disease-causing ABCA4 alleles identified in 80% of subjects (47/59). The findings confirm the prognostic value of ERG suggested by earlier cross-sectional data and are relevant to the design of future clinical trials.
Approximately one-fifth of Group 1 patients (dysfunction confined to the macula) progressed to either
Kaoru Fujinami, MD, is a clinical research fellow in the Departments of Inherited Eye Disease at Moorfields Eye Hospital and Genetics at University College London, Institute of Ophthalmology, United Kingdom. He graduated from Nagoya University and completed ophthalmology clinical training under Professor Miyake at the National Institute of Sensory Organs, Tokyo, Japan. His research interests include clinical electrophysiology and ophthalmic genetics, with his current projects relating to
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Kaoru Fujinami, MD, is a clinical research fellow in the Departments of Inherited Eye Disease at Moorfields Eye Hospital and Genetics at University College London, Institute of Ophthalmology, United Kingdom. He graduated from Nagoya University and completed ophthalmology clinical training under Professor Miyake at the National Institute of Sensory Organs, Tokyo, Japan. His research interests include clinical electrophysiology and ophthalmic genetics, with his current projects relating to genotype-phenotype correlations in inherited retinal disease.
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