{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T09:04:16Z","timestamp":1789981456908,"version":"4.0.1"},"reference-count":47,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T00:00:00Z","timestamp":1395705600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>The 15q13.3 heterozygous microdeletion is a fairly common microdeletion syndrome with marked clinical variability and incomplete penetrance. The average size of the deletion, which comprises six genes including <jats:italic>CHRNA7<\/jats:italic>, is 1.5\u2009Mb. <jats:italic>CHRNA7<\/jats:italic> has been identified as the gene responsible for the neurological phenotype in this microdeletion syndrome. Only seven patients with a homozygous microdeletion that includes at least <jats:italic>CHRNA7<\/jats:italic>, and is inherited from both parents have been described in the literature. The aim of this study was to further describe the distinctive eye manifestations from the analysis in the three French patients diagnosed with the classical 1.5\u2009Mb homozygous microdeletion. Patients' ages ranged from 30 months to 9 years, and included one sib pair. They all displayed a remarkably severe identifiable clinical phenotype that included congenital blindness and convulsive encephalopathy with inconstant abnormal movements. The ophthalmological examination revealed a lack of eye tracking, optic nerve pallor, an immature response with increased latencies with no response to the checkerboard stimulations at the visual evoked potential examination, and a distinctive retina dystrophy with a negative electroretinogram in which the \u201cb\u201d wave was smaller than the \u201ca\u201d wave after a dark adapted pupil and bright flash in all patients. Clear genotype\u2013phenotype correlations emerged, showing that this eye phenotype was secondary to homozygous deletion of <jats:italic>TRPM1<\/jats:italic>, the gene responsible for autosomal recessive congenital stationary night blindness. The main differential diagnosis is ceroid lipofuscinosis. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36471","type":"journal-article","created":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T17:09:08Z","timestamp":1395767348000},"page":"1537-1544","source":"Crossref","is-referenced-by-count":21,"title":["Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including <i>TRPM1<\/i>: A differential diagnosis of ceroid lipofuscinosis"],"prefix":"10.1002","volume":"164","author":[{"given":"Alice","family":"Masurel\u2010Paulet","sequence":"first","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs H\u00f4pital d'Enfants CHU Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Drumare","sequence":"additional","affiliation":[{"name":"Service d'Ophtalmologie CHRU Lille 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