{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T22:34:35Z","timestamp":1790634875174,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,11,30]],"date-time":"2017-11-30T00:00:00Z","timestamp":1512000000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>We aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone\u2010rod retinal dystrophy (<jats:styled-content style=\"fixed-case\">CORD<\/jats:styled-content>) caused by pathogenic variants in the <jats:italic><jats:styled-content style=\"fixed-case\">ALMS<\/jats:styled-content>1<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Seven patients with Alstr\u00f6m syndrome (<jats:styled-content style=\"fixed-case\">ALMS<\/jats:styled-content>) were included in the study. A comprehensive ophthalmological examination was performed, including best\u2010corrected visual acuity (BCVA), a semiautomated kinetic visual field exam, colour vision testing, full\u2010field electroretinography testing according to International Society for Clinical Electrophysiology of Vision (ISCEV) standards, spectral domain optical coherence tomography (SD\u2010OCT) and fundus autofluorescence (FAF) imaging, and slit lamp and dilated fundus examination. <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> samples were analysed using Sanger sequencing or exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In our cohort, the ocular phenotype presented with a wide variability in retinal function and disease severity. However, age of symptom onset (i.e. nystagmus and photophobia) was at 6\u20139\u00a0months in all patients. These symptoms mostly mislead to the diagnosis of congenital achromatopsia (<jats:styled-content style=\"fixed-case\">ACHM<\/jats:styled-content>), Leber congenital amaurosis (<jats:styled-content style=\"fixed-case\">LCA<\/jats:styled-content>), isolated <jats:styled-content style=\"fixed-case\">CORD<\/jats:styled-content> or Bardet\u2013Biedl syndrome. The systemic manifestations in our cohort were highly variable.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In summary, we can report that most of our <jats:styled-content style=\"fixed-case\">ALMS<\/jats:styled-content> patients primarily presented with nystagmus and severe photophobia since early childhood interestingly without night blindness in the absence of systemic symptoms. Only genetic testing analysing both nonsyndromic retinal disease (RD) genes and syndromic ciliopathy genes by comprehensive panel sequencing can result in the correct diagnosis, genetically and clinically, with important implication for the physical health of the individual.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.13612","type":"journal-article","created":{"date-parts":[[2017,11,30]],"date-time":"2017-11-30T06:32:40Z","timestamp":1512023560000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Ophthalmic features of cone\u2010rod dystrophy caused by pathogenic variants in the <i><scp>ALMS<\/scp>1<\/i> gene"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5309-7155","authenticated-orcid":false,"given":"Fadi","family":"Nasser","sequence":"first","affiliation":[{"name":"Institute for Ophthalmic Research Centre for Ophthalmology Eberhard Karls University Tuebingen 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