Central areolar choroidal dystrophy in a family with pseudoachondroplastic spondyloepiphyseal dysplasia
- 1 January 1988
- journal article
- Published by Taylor & Francis in Ophthalmic Paediatrics and Genetics
- Vol. 9 (1) , 57-65
- https://doi.org/10.3109/13816818809031481
Abstract
The author reports the first association of central areolar choroidal dystrophy in three brothers with pseudoachondroplastic spondyloepiphyseal dysplasia. Both central areolar choroidal dystrophy and pseudoachondroplastic spondyloepiphyseal dysplasia represent heterogeneous disorders with autosomal dominant transmission. It is hypothesized that this association is a result of a new subtype involving both the skeletal system and the eye.Keywords
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