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Stickler Syndrome

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Inherited Chorioretinal Dystrophies

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Abstract

Stickler syndrome is a highly variable autosomally dominantly inherited connective tissue disorder first described in 1965. Ocular features include high myopia, vitreoretinal degeneration and cataract. There is a strong predisposition to rhegmatogenous retinal detachment. Extraocular features include cleft palate and midface hypoplasia, hearing loss and early-onset osteoarthritis.

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References

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Acknowledgement

The Figs. 45.1, 45.2, 45.3, 45.4, 45.5, 45.6 and 45.7 were kindly provided by Dr. Katrien Hoornaert, Department of Ophthalmology and Department of Medical Genetics Ghent University.

Author information

Authors and Affiliations

  1. Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Oxford Road, Manchester, M13 9WL, UK

    Graeme Charles M. Black

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  1. Graeme Charles M. Black
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Correspondence to Graeme Charles M. Black .

Editor information

Editors and Affiliations

  1. Service d’Exploration de la Vision et Neuro-ophtalmologie, Centre Hospitalier Universitaire de Lille, Hôpital Roger Salengro, Lille Cedex, France

    Bernard Puech

  2. Department of Ophthalmology, Ghent University Hospital, Ghent University, Ghent, Belgium

    Jean-Jacques De Laey

  3. Department of Electrophysiology, Moorfields Eye Hospital, London, United Kingdom

    Graham E. Holder

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© 2014 Springer-Verlag Berlin Heidelberg

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Black, G.C.M. (2014). Stickler Syndrome. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_45

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  • DOI: https://doi.org/10.1007/978-3-540-69466-3_45

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-69464-9

  • Online ISBN: 978-3-540-69466-3

  • eBook Packages: MedicineMedicine (R0)

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