{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T11:58:30Z","timestamp":1785499110827,"version":"3.56.0"},"reference-count":24,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,7,24]]},"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:p>\n                    An exceptionally rare case of dual Mendelian molecular diagnosis is presented in a young male with both\n                    <jats:italic>PAX6<\/jats:italic>\n                    -associated congenital aniridia and\n                    <jats:italic>RPGR<\/jats:italic>\n                    -related X-linked retinitis pigmentosa. The patient presented in childhood with photophobia, iris hypoplasia, foveal hypoplasia on optical coherence tomography and reduced multifocal electroretinography amplitude, consistent with\n                    <jats:italic>PAX6<\/jats:italic>\n                    -related aniridia confirmed by familial variant testing. In early adulthood, progressive nyctalopia, visual field constriction and widespread peripheral pigmentary retinopathy emerged. Whole-exome sequencing revealed a second pathogenic variant in\n                    <jats:italic>RPGR<\/jats:italic>\n                    , establishing a dual diagnosis. This case underscores that atypical or complex ocular phenotypes may reflect co-occurrence of independent genetic disorders. Comprehensive anterior and posterior phenotyping combined with broad genetic testing optimises diagnostic yield. Management requires lifelong multidisciplinary follow-up addressing each condition separately, plus genetic counselling to clarify distinct inheritance patterns (\n                    <jats:italic>PAX6<\/jats:italic>\n                    : autosomal dominant;\n                    <jats:italic>RPGR<\/jats:italic>\n                    : X-linked).\n                  <\/jats:p>","DOI":"10.1136\/bcr-2026-272790","type":"journal-article","created":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T11:15:14Z","timestamp":1785496514000},"page":"e272790","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["<i>PAX6<\/i>\n                    -associated aniridia and\n                    <i>RPGR<\/i>\n                    -related X-linked retinitis pigmentosa: a rare dual Mendelian molecular diagnosis"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-5256-8745","authenticated-orcid":false,"given":"Nilton Viegas","family":"Mestre","sequence":"first","affiliation":[{"name":"Ophthalmology, ULS Coimbra, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Maraqah","sequence":"additional","affiliation":[{"name":"College of Medicine, Hebron University, Hebron, Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Lu\u00edsa","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Medical Genetics, Unidade Local de Sa\u00fade de Coimbra, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1014-0483","authenticated-orcid":false,"given":"Jo\u00e3o Pedro","family":"Marques","sequence":"additional","affiliation":[{"name":"Ophthalmology, ULS Coimbra, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,7,31]]},"reference":[{"key":"2026073104150639000_19.7.e272790.1","doi-asserted-by":"crossref","DOI":"10.3390\/genes10121050","article-title":"The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye","volume":"10","author":"Lima Cunha","year":"2019","journal-title":"Genes (Basel)"},{"key":"2026073104150639000_19.7.e272790.2","unstructured":"Moosajee M , Hingorani M , Moore AT . PAX6-related aniridia. In: Adam MP , Mirzaa GM , Pagon RA , eds. GeneReviews. Seattle (WA): University of Washington, Seattle, 2018."},{"key":"2026073104150639000_19.7.e272790.3","doi-asserted-by":"crossref","first-page":"96","DOI":"10.3390\/cimb46010008","article-title":"An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser)","volume":"46","author":"Vasilyeva","year":"2023","journal-title":"Curr Issues Mol Biol"},{"key":"2026073104150639000_19.7.e272790.4","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.125.2.151"},{"key":"2026073104150639000_19.7.e272790.5","doi-asserted-by":"crossref","DOI":"10.3390\/ijms22020850","article-title":"X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR","volume":"22","author":"Kort\u00fcm","year":"2021","journal-title":"Int J Mol Sci"},{"key":"2026073104150639000_19.7.e272790.6","unstructured":"National Library of Medicine (US) . RPGR gene: retinitis pigmentosa GTPase regulator. Bethesda (MD): MedlinePlus Genetics; 2025. Available: https:\/\/medlineplus.gov\/genetics\/gene\/rpgr\/"},{"key":"2026073104150639000_19.7.e272790.7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/IAE.0000000000003920","article-title":"A systematic literature review of disease progression reported in RPGR -associated x-linked retinitis pigmentosa","volume":"44","author":"Lam","year":"2024","journal-title":"Retina"},{"key":"2026073104150639000_19.7.e272790.8","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-024-03148-3","article-title":"Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods","volume":"19","author":"Liu","year":"2024","journal-title":"Orphanet J Rare Dis"},{"key":"2026073104150639000_19.7.e272790.9","doi-asserted-by":"crossref","first-page":"4119","DOI":"10.4103\/ijo.IJO_316_22","article-title":"PAX6 disease models for aniridia","volume":"70","author":"Abdolkarimi","year":"2022","journal-title":"Indian J Ophthalmol"},{"key":"2026073104150639000_19.7.e272790.10","first-page":"667","article-title":"PAX6-related aniridia","volume":"39","author":"Moosajee","year":"2018","journal-title":"Ophthalmic Genet"},{"key":"2026073104150639000_19.7.e272790.11","unstructured":"Hingorani M . In: Molecular genetics of aniridia. Chichester (UK): John Wiley & Sons Ltd, 2025. Available: https:\/\/doi.org\/10.1002\/9780470015902.a0006320.pub2"},{"key":"2026073104150639000_19.7.e272790.12","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.148406","article-title":"Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia","volume":"6","author":"Kit","year":"2021","journal-title":"JCI Insight"},{"key":"2026073104150639000_19.7.e272790.13","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1080\/13816810.2022.2109686","article-title":"Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males","volume":"43","author":"Vinikoor-Imler","year":"2022","journal-title":"Ophthalmic Genet"},{"key":"2026073104150639000_19.7.e272790.14","doi-asserted-by":"crossref","first-page":"276","DOI":"10.4103\/sjopt.sjopt_168_23","article-title":"Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy","volume":"37","author":"Wongchaisuwat","year":"2023","journal-title":"Saudi J Ophthalmol"},{"key":"2026073104150639000_19.7.e272790.15","doi-asserted-by":"crossref","unstructured":"Calv\u00e3o-Pires P , Santos-Silva R , Falc\u00e3o-Reis F , et al . Congenital aniridia: clinic, genetics, therapeutics, and prognosis. 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