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<i>C21orf2</i>is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium

20 Aug 2015

Abstract excerpt

BACKGROUND/AIM: We have noted a phenotype of early-onset retinal dystrophy with macular staphyloma but without high myopia. The aim of this study is to report the underlying genetic mutations and the subcellular localisation of the gene product in the retina. METHODS: Retrospective case series (2012-2015); immunohistochemical analyses of mammalian retina for in situ protein localisation. RESULTS: All three...

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PMID: 26294103
DOI: 10.1136/bjophthalmol-2015-307277

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