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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Retinal detachment in focal dermal hypoplasia.

PURPOSE: Focal dermal hypoplasia is a systemic disease that includes well recognized ocular abnormalities. Retinal detachment has not previously been reported as a part of this syndrome. AIM: To report a case of focal dermal hypoplasia with an associated retinal detachment. METHODS: Single case report of a child with a colobomatous retinal detachment and the focal dermal hypoplasia syndrome. CONCLUSIONS: Retinal detachments may occur as part of the focal dermal hypoplasia syndrome. Expanding knowledge of this syndrome may help ophthalmologists diagnose this rare condition.[1]


  1. Retinal detachment in focal dermal hypoplasia. Prenner, J.L., Ciaccia, S., Capone, A., Trese, M.T. European journal of ophthalmology. (2004) [Pubmed]
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