A Novel ABCA4 Mutation Associated with a Late-Onset Stargardt Disease Phenotype: A Hypomorphic Allele

A Novel ABCA4 Mutation Associated with a Late-Onset Stargardt Disease Phenotype: A Hypomorphic Allele

Background: Stargardt disease (STGD) is the most common juvenile hereditary macular dystrophy. In the majority of cases, the diagnosis is made prior to 20 years of age and usually leads to loss of central vision. Late-onset STGD affects a smaller number of patients. Identifying genetic changes which...

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Bibliographic Details
Main Authors: Cindy S. Kaway, Madeleine K.M. Adams, Kevin Sean Jenkins, Christopher J. Layton
Format: Article
Language:English
Published: Karger Publishers 2017-03-01
Series:Case Reports in Ophthalmology
Subjects:
Stargardt disease
Macular dystrophy
ABCA4
Mutation
Online Access:http://www.karger.com/Article/FullText/464129

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http://www.karger.com/Article/FullText/464129

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