Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.

Abstract

BACKGROUND AND AIM To describe the clinical and genetic characteristics of a mother and her son presenting with two distinct and rare forms of retinal degeneration. METHODS Investigations in both patients comprised spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence imaging, non-contact biometry, ultrasonography… (More)
DOI: 10.1136/bjophthalmol-2012-302355

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