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Spondylo-ocular-syndrome with Cataract, Anterior Synechia, Retinal Detachment, Hypertelorism, Platyspondyly and Generalised Osteoporosis
1Rudolph G., 1Kalpadakis P., 2Haritoglou C., 1Boergen K.-P.,
1Ludwig-Maximilians-Universität München, Augenklinik, Kinderophthalmologie, Strabismologie und Ophthalmogenetik (München)
2Ludwig-Maximilians-Universität München, Klinikum Innenstadt, Augenklinik (München)
Purpose: Oculo-sceletal syndromes with cataract or retinal detachment are described as osteoporosis-pseudoglioma syndrome (OPS) or as collagenopathies such as e.g. Stickler syndrome. Type II collagenopathies summarise a group of spondylo-epiphyseal dysplasies. This type of collagen occurs also in the vitreous and herein may be the explanation for the ocular alterations demonstrated in these patients.
Method: We report on a family with consanguinous healthy parents and seven children from whom five were affected by ocular changes. Segregation of intragenic or flanking marker alleles of the collagen genes (COL2A1, COL 11A1, COL11A2, COL11A2-37) and OPS were analysed. Two affected boys underwent laboratory investigations to exclude a metabolic disorder.
Results: Ocular examination of the parents revealed a mild radial cataract. The phenotype of the affected children reached from dense opacities of the capsule with an absent lens nucleus to dense cataract, from anterior synechia of different expression, from retinal detachment to phtisis bulbi. On radiological examination there was a generalised osteoporosis and a marked platyspondyly with a short trunk and scoliosis. A metabolic disorder could be excluded, as well a collagenopathie or OPS.
Conclusions: Although there is a variability in the severity of the phenotype the uniformity of the clinical features in the affected siblings were striking. Together with the consanguineous nature of their relationship, a autosomal recessive inheritance has to be supposed as the cause of this not earlier described clinical entity. A possible new syndrome has to be discussed.