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The clinical phenotype was variable even among family members with the same <jats:italic>FZD4<\/jats:italic> variant. Only 34% (<jats:italic>N<\/jats:italic>\u2009=\u200912\/35) of variant\u2010positive individuals had been clinically diagnosed with FEVR. The median age of the onset of symptoms was 2.3\u2009years, ranging between 0 to 25\u2009years. Median visual acuity was 0.1 logMAR (0.8 Snellen decimal), ranging between light perception and\u2009\u22120.1 logMAR (1.25 Snellen decimal). Most (<jats:italic>N<\/jats:italic>\u2009=\u200933\/35, 94%) were classified as not visually impaired. Despite unilateral visual loss present in some, they did not meet the criteria of visual impairment according to the WHO classification. Two study patients (<jats:italic>N<\/jats:italic>\u2009=\u20092\/35, 6%) had severe visual impairment. The most common FEVR stage in study patient's eyes (<jats:italic>N<\/jats:italic>\u2009=\u200928\/70 eyes, 40%) was FEVR stage 1, that is, avascular periphery or abnormal vascularisation. Most of <jats:italic>FZD4<\/jats:italic>\u2010variant\u2010positive study patient's eyes (<jats:italic>N<\/jats:italic>\u2009=\u200931\/50 eyes, 62%) were myopic. Two individuals presented with persistent hyperplastic primary vitreous expanding the phenotypic spectrum of FEVR. Shared haplotypes extending approximately 0.9\u2009Mb around the recurrent <jats:italic>FZD4<\/jats:italic> c.313A&gt;G variant were identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Most study patients were unaffected or had mild clinical manifestations by FEVR. Myopia seemed to be overly common in <jats:italic>FZD4<\/jats:italic>\u2010variant\u2010positive individuals.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.16701","type":"journal-article","created":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T04:44:28Z","timestamp":1714970668000},"page":"152-161","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic <scp><i>FZD4<\/i><\/scp> variants"],"prefix":"10.1111","volume":"103","author":[{"given":"Laura","family":"L\u00e4hteenoja","sequence":"first","affiliation":[{"name":"Research Unit of Clinical Medicine and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Department of Clinical Genetics Oulu University Hospital  Oulu Finland"},{"name":"Department of Ophthalmology Oulu University Hospital 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