TULP1Mutations Causing Early-Onset Retinal Degeneration: Preserved but Insensitive Macular Cones
نویسندگان
چکیده
منابع مشابه
TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.
PURPOSE To investigate visual function and outer and inner retinal structure in the rare form of retinal degeneration (RD) caused by TULP1 (tubby-like protein 1) mutations. METHODS Retinal degeneration patients with TULP1 mutations (n = 5; age range, 5-36 years) were studied by kinetic and chromatic static perimetry, en face autofluorescence imaging, and spectral-domain optical coherence tomo...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2014
ISSN: 1552-5783
DOI: 10.1167/iovs.14-14570