{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T16:30:18Z","timestamp":1758990618643},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,9,28]],"date-time":"2004-09-28T00:00:00Z","timestamp":1096329600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Ophthalmologica Scandinavica"],"published-print":{"date-parts":[[2004,10]]},"abstract":"<jats:title>Abstract.<\/jats:title><jats:p><jats:bold>Purpose:\u2002<\/jats:bold>  <jats:bold>To describe the clinical characteristics of a Japanese male patient with enhanced S\u2010cone syndrome (ESCS) and investigate the existence of mutations in the <jats:italic>NR2E3<\/jats:italic> gene, which encodes a photoreceptor cell\u2010specific nuclear receptor.<\/jats:bold> <\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold>  <jats:bold>Fundus examinations, fluorescein angiography, colour vision tests, spectral sensitivity, and full\u2010field and spectral electroretinography were performed. Mutation screening of the <jats:italic>NR2E3<\/jats:italic> gene was performed with polymerase chain reaction (PCR) amplification and direct sequencing.<\/jats:bold> <\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold>  <jats:bold>We identified a novel homozygous mutation (c.1048C\u2003&gt;\u2003T), that converts glutamine (CAA) to a termination codon (TAA) at amino acid position 350. The subject's unaffected parents were heterozygous for the mutation, consistent with autosomal recessive transmission. The electroretinographic findings revealed that the patient had neither rod nor 30\u2010Hz flicker responses but did have cone responses with large a\u2010wave and low b\u2010wave amplitudes, similar to the rod\u2010plus\u2010cone responses, and also substantial short wavelength\u2010sensitive (S) cone and extremely diminished long\/middle wavelength\u2010sensitive (L\/M) cone responses. In the right eye, spectral sensitivity in the fovea revealed both functional S\u2010cone and remarkably reduced L\u2010 and M\u2010cone sensitivities, which was compatible with the decreased visual acuity (VA) and red\/green colour vision defects noted in this eye. In contrast, the patient had good VA and normal red\/green colour vision in the left eye.<\/jats:bold> <\/jats:p><jats:p><jats:bold>Conclusion:\u2002<\/jats:bold>  <jats:bold>The nonsense mutation results in a truncated <jats:italic>NR2E3<\/jats:italic> protein lacking 61 amino acids within the ligand\u2010binding domain (LBD) that consists of 190 amino acids of the C\u2010terminus end. Therefore, null function of the LBD is likely to cause ESCS in the patient. The clinical findings for this patient suggest that his left eye, with its functional L\/M\u2010 and S\u2010cones, was at an earlier stage of the syndrome than his right eye.<\/jats:bold> <\/jats:p>","DOI":"10.1111\/j.1600-0420.2004.00328.x","type":"journal-article","created":{"date-parts":[[2004,9,28]],"date-time":"2004-09-28T15:41:43Z","timestamp":1096386103000},"page":"616-622","source":"Crossref","is-referenced-by-count":20,"title":["Enhanced S\u2010cone syndrome in a Japanese family with a nonsense <i>NR2E3<\/i> mutation 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