Abstract
X-linked cone dystrophy (XLCD) is an infrequent cause of progressive central visual loss in males. Other clinical features include central scotoma, color vision disturbance, macular degeneration and abnormalities on cone mediated electroretinogram (ERG) (1–4). This eye disease is distinguishable from the autosomal form by a family pedigree in which affected males appear on the maternal side without male to male transmission. Two XLCD families, with a greenish-golden tapetal-like reflex, were reported by Heckenlively et al. (3) in 1986. The cases described were considered to represent a newly recognized entity of XLCD associated with the Mizuo-Nakamura phenomenon in which the tapetal-like reflex disappeared after long dark adaptation (3). DNA analysis of XLCD families has also been reported, and the causative gene (COD1) has been localized to the short arm of the X-chromosome (5–7).
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© 1997 Springer Science+Business Media New York
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Hayakawa, M., Fujiki, K., Yanashima, K., Kondo, I., Kanai, A. (1997). A Family with X-Linked Cone Dystrophy Showing a Tapetal-Like Reflex. In: LaVail, M.M., Hollyfield, J.G., Anderson, R.E. (eds) Degenerative Retinal Diseases. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5933-7_6
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DOI: https://doi.org/10.1007/978-1-4615-5933-7_6
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