Article
Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2.
The British journal of ophthalmology - 1 Feb 2018
Lockhart Catherine M, Smith Travis B, Yang Paul, Naidu Malini, Rettie Allan E, Nath Abhinav, Weleber Richard, Kelly Edward J
Abstract excerpt
BACKGROUND: Bietti crystalline dystrophy (BCD) is a rare inherited disorder characterised by fine crystalline deposits in the corneal limbus and retinal posterior pole. In 2004, mutations in the CYP4V2 gene were identified as the cause of BCD. Here, we describe the report of a homozygous point mutation in a patient with BCD and provide detailed characterisation of functional and structural changes over 20 years....
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