{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T09:08:30Z","timestamp":1790240910928,"version":"4.1.0"},"reference-count":12,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,9,2]]},"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:p>\n                    A young man presented with progressive night blindness, optic neuropathy and bilateral retinal flecks, initially suggestive of an inherited retinal dystrophy. Genetic testing identified a heterozygous pathogenic variant in\n                    <jats:italic>USH2A<\/jats:italic>\n                    alongside multiple variants of uncertain significance, none of which fully explained the phenotype. Further investigation revealed severe vitamin A deficiency and cranial hyperostosis with narrowing of the optic canals. Retinal findings improved following vitamin A supplementation. This case illustrates the diagnostic complexity of retinal dystrophies, emphasises the need for a multidisciplinary approach by integrating findings from various specialties, including ophthalmology, neurology, medical genetics and neurosurgery, even in patients with genetic findings of potential relevance. Moreover, it highlights vitamin A deficiency as a reversible cause of retinal pathology.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-268766","type":"journal-article","created":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T08:40:33Z","timestamp":1790239233000},"page":"e268766","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Fundus albipunctatus-like retinopathy in hypovitaminosis A-related optic neuropathy with skull hyperostosis"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-3154-8656","authenticated-orcid":false,"given":"Adam Tomasz","family":"Chmiel","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, National Medical Institute of the Ministry of the Interior and Administration, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Franca","sequence":"additional","affiliation":[{"name":"Ophthalmology Unit, Hospitais da Universidade de Coimbra (HUC), Unidade Local de Sa\u00fade de Coimbra, Coimbra, Portugal"},{"name":"Clinical and Academic Center of Coimbra (CACC), Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Lu\u00edsa","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Clinical and Academic Center of Coimbra (CACC), Coimbra, Portugal"},{"name":"Medical Genetics Unit, Hospital Pedi\u00e1trico (HP), Unidade Local de Sa\u00fade de Coimbra, Coimbra, Portugal"},{"name":"University Clinic of Medical Genetics, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1014-0483","authenticated-orcid":false,"given":"Jo\u00e3o 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