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Wagner syndrome (hyaloideoretinal degeneration; hereditary hyaloideoretinal degeneration and palatoschisis; clefting syndrome; goldmann-favre syndrome; favre hyaloideoretinal degeneration; retinoschisis with early hemeralopia) 1


Wagner Syndrome (Hyaloideoretinal Degeneration; 131e44b Hereditary Hyaloideoretinal Degeneration and Palatoschisis; Clefting Syndrome; Goldmann-Favre Syndrome; Favre Hyaloideoretinal Degeneration; 131e44b Retinoschisis with Early Hemeralopia) 1

General: Irregular dominant inheritance; both sexes affected.

Ocular: Epicanthus; nystagmus; myopia; iris atrophy; vitreous opacities with dense streaks and folds in posterior hyaloid membrane; corneal degeneration, including band-shaped keratopathy; cataracts; hyaloideoretinal degeneration (usually apparent after 15 years); narrowing of retinal vessels; pigmentary changes; type of retinal degeneration varies from case to case; retinal detachment and avascular preretinal membranes; marked choroidal sclerosis; pale optic disk; Bergmeister papilla.

Clinical: Palatoschisis; genua valga; facial anomalies; hypoplastic maxilla; saddle nose; hyperextensible fingers, elbows, and knees; tapering fingers.



Black GCM, et al. A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cm region of chromosome 5q13-q14. Ophthalmology 1999; 1006:2074-2081.

Frandsen E. Hereditary hyaloideoretinal degeneration (Wagner) in a Danish family. Arch Ophthalmol 1966; 74:223.

Hirose T, et al. Wagner's hereditary vitreoretinal degeneration and retinal detachment. Arch Ophthalmol 1973; 89: 176.

Kaiser-Kupfer M. Ectrodactyly, ectodermal dysplasia and clefting syndrome. Am J Ophthalmol 1973; 76:992.

Wagner H. Ein Bisher Unbekanntes Erbleiden des Auges (Degeneratio Hyaloideo Hereditaria), Beobachtet im Kanton Zurich. Klin Monatsbl Augenheilkd 1938; 100: 840.




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