Table 1

Summary of clinical and molecular findings in the study patients

Patient IDGenderAgeOcular phenotypeNon-ocular phenotypeMutation
F1-AM12 yearsEctopia lentis, retinal degeneration, high myopiaEpilepsy, developmental delay, occipital encephaloceleCOL18A1 c.355delG (p.V119SfsX5)
F1-BM15 yearsPhthisisOccipital cutis aplasiaCOL18A1 c.355delG (p.V119SfsX5)
F1-CM21 yearsPhthisisOccipital encephaloceleCOL18A1 c.355delG (p.V119SfsX5)
F2-AM8 yearsEctopia lentis, retinal degeneration, high myopiaOccipital cutis aplasiaCOL18A1 c.2743C>T (p.R915X)
F2-BM7 yearsEctopia lentis, retinal degeneration, high myopiaOccipital cutis aplasiaCOL18A1 c.2743C>T (p.R915X)
F2-CM4 yearsEctopia lentis, retinal degeneration, high myopiaNo occipital defectCOL18A1 c.2743C>T (p.R915X)
F3-AF5 yearsEctopia lentis, retinal degeneration, high myopiaCOL18A1 c.3514_3515delCT (p.L1172VfsX72)
F3-BM15 yearsRetinal degeneration, high myopiaCOL18A1 c.3514_3515delCT (p.L1172VfsX72)
F4-AM14 monthsRetinal degeneration, high myopiaRight clavicular pseudoarthrosis (congenital), occipital cutis aplasiaCOL18A1 c.2743C>T (p.R915X)
F4-BM17 yearsCataract, ectopia lentis, retinal degeneration, high myopiaOccipital cutis aplasiaCOL18A1 c.2743C>T (p.R915X)
F4-CM24 yearsCataract, ectopia lentis, retinal degeneration, high myopiaOccipital cutis aplasiaCOL18A1 c.2743C>T (p.R915X)
F-5M4 yearsRetinal degeneration, high myopiaOccipital cutis aplasiaCOL18A1 c.1785_1786delinsA (p.P597LfsX127)
F-6F8 yearsEctopia lentis, cataract OS, retinal degeneration, serous retinal detachment OS, high myopiaOccipital encephalocele, developmental delayADAMTS18 c.536C>T (p.S179L)
  • Ocular findings were in both eyes unless otherwise indicated; OS, oculus sinister (the left eye).