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<p>Ciliopathies are associated with a range of phenotypes including retinal degeneration and skeletal abnormalities. We present a retrospective study of 49 patients with variants in Cilia and Flagella Associated Protein 410 (<i>CFAP410</i>) from multiple ophthalmic centers across the world. Common clinical features included early-onset reduced visual acuity, photophobia, and delayed light-to-dark adaptation. A cone-rod dystrophy pattern was observed roughly two times more commonly than rod-cone dystrophy. A minority of patients (22.4%) presented with skeletal abnormalities consistent with axial spondylometaphyseal dysplasia (SMDAX). Patients with the most severe ophthalmic and skeletal phenotypes had disease-associated variants within conserved leucine-rich regions of <i>CFAP410</i>, and the structural effects of these variants were modelled using ChimeraX. This report furthers our understanding of <i>CFAP410</i>-associated clinical phenotypes such as retinal dystrophy and skeletal dysplasia.</p>

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Variants in CFAP410 cause a range of retinal and skeletal phenotypes

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月17日

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  • Ryan E. Schmidt,
  • Amy E. Pohodich,
  • David Birch,
  • Kaylie Jones,
  • Byron L. Lam,
  • Emily H. Jung,
  • Nieraj Jain,
  • Michalis Georgiou,
  • Omar A. Mahroo,
  • Andrew R. Webster,
  • Michel Michaelides,
  • Benjamin Bakall,
  • Alessandro Iannaccone,
  • Ajoy Vincent,
  • Deepika C. Parameswarappa,
  • Elise Heon,
  • Hendrik P. N. Scholl,
  • Lucas Janeschitz-Kriegl,
  • Elias I. Traboulsi,
  • Wadih Zein,
  • Brian P. Brooks,
  • Catherine Cukras,
  • Robert Hufnagel,
  • Tomas S. Aleman,
  • Mohamed M. Sylla,
  • Stephen H. Tsang,
  • Michelle Alabek,
  • Jose Sahel,
  • Michael B. Gorin,
  • Maria M. van Genderen,
  • Katarina Stingl,
  • Milda Reith,
  • Susanne Kohl,
  • Rebeca Azevedo Souza Amaral,
  • Juliana Maria Ferraz Sallum,
  • Andrea L. Vincent,
  • Sarah Hull,
  • Jacque L. Duncan,
  • James V. M. Hanson,
  • Matthias Tedeus,
  • Jordi Maggi,
  • Urs Graf,
  • Samuel Koller,
  • Wolfgang Berger,
  • Christina Gerth-Kahlert,
  • Molly Marra,
  • Lesley A. Everett,
  • Paul Yang,
  • Mark E. Pennesi

摘要

Ciliopathies are associated with a range of phenotypes including retinal degeneration and skeletal abnormalities. We present a retrospective study of 49 patients with variants in Cilia and Flagella Associated Protein 410 (CFAP410) from multiple ophthalmic centers across the world. Common clinical features included early-onset reduced visual acuity, photophobia, and delayed light-to-dark adaptation. A cone-rod dystrophy pattern was observed roughly two times more commonly than rod-cone dystrophy. A minority of patients (22.4%) presented with skeletal abnormalities consistent with axial spondylometaphyseal dysplasia (SMDAX). Patients with the most severe ophthalmic and skeletal phenotypes had disease-associated variants within conserved leucine-rich regions of CFAP410, and the structural effects of these variants were modelled using ChimeraX. This report furthers our understanding of CFAP410-associated clinical phenotypes such as retinal dystrophy and skeletal dysplasia.