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Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex
Molecular Vision, 09/09/09

Zenteno JC et al. – The third known family with the syndrome of nanophthalmos–retinitis pigmentosa–foveoschisis–optic disc drusen is presented. This is the first demonstration of compound heterozygosity for MFRP mutations as the source of the disease. The affected siblings described here are the youngest patients with the disease reported to date and the comparison of their clinical data with previous individuals with this syndrome suggest that some aspects of the phenotype are probably age–dependent.

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