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| http://purl.uniprot.org/citations/29204067 | http://www.w3.org/2000/01/rdf-schema#comment | "PurposeHeterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy.MethodsClinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a panel of retinal dystrophy genes.ResultsA now 17-year-old boy presented 12 years earlier with a history of progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy. He also had bilateral microphthalmos and a slim prepubertal appearance; growth hormone levels were within normal ranges. Next-generation sequencing of a retinal dystrophy gene panel revealed a heterozygous deletion c.485delC (p.Pro162G.Infs*24) in exon 5 of OTX2.ConclusionsThis second report of maculopathy associated with a heterozygous mutation in OTX2 confirms that mutations in OTX2 should be considered in the differential diagnosis of atypical hereditary maculopathy, with or without rod-cone dystrophy."xsd:string |
| http://purl.uniprot.org/citations/29204067 | http://purl.uniprot.org/core/author | "Khan A.O."xsd:string |
| http://purl.uniprot.org/citations/29204067 | http://purl.uniprot.org/core/author | "Neuhaus C."xsd:string |
| http://purl.uniprot.org/citations/29204067 | http://purl.uniprot.org/core/author | "Schatz P."xsd:string |
| http://purl.uniprot.org/citations/29204067 | http://purl.uniprot.org/core/author | "Abdalla-Elsayed M.E."xsd:string |
| http://purl.uniprot.org/citations/29204067 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/29204067 | http://purl.uniprot.org/core/name | "Mol Vis"xsd:string |
| http://purl.uniprot.org/citations/29204067 | http://purl.uniprot.org/core/pages | "778-784"xsd:string |
| http://purl.uniprot.org/citations/29204067 | http://purl.uniprot.org/core/title | "Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy."xsd:string |
| http://purl.uniprot.org/citations/29204067 | http://purl.uniprot.org/core/volume | "23"xsd:string |
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