1st Edition

Molecular Genetics of Inherited Eye Disorders

ISBN 9783718654932
Published November 30, 1994 by CRC Press
552 Pages

USD $200.00

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Book Description

Molecular Genetics of Inherited Eye Disorders provides an authoritative and up-to-date account of molecular genetic advances in a wide spectrum of genetic eye disorders, and forms the second volume in the Modern Genetics book series. The field has produced some dramatic and often unexpected findings in recent years ranging from the elegant unravelling of the molecular basis of colour vision defects to the subtle complexity of the retinoblastoma gene. The role of crystallins in congenital cataract and of the rhodopsin molecule in retinitis pigmentosa are discussed, illustrating the importance of the candidate gene approach to genetic eye disease. Reverse genetic approaches to the cloning of genes responsible for aniridia and choroideremia exemplify the power of the new genetic techniques and signal the start of the next experimental phase, in which the functional characterization of identified genes begins.

Table of Contents

Preface to the Series



Background to Molecular Genetic Principles and Techniques M. B. Gorin and A. F. Wright


Retinal Degeneration Mutants of Drosophila W. L Pak


Diagnosis in Inherited Retinal Disorders A. C. Bird and B. Jay

Human Albinism and Mouse Models R. A. King, I. J. Jackson and W. S. Oetting

Inherited Retinal Degenerations in the Mouse D. B. Farber and M. Danciger

Autosomal Dominant Retinitis Pigmentosa P. Humphries, P. Kenna and G. J. Farrar

The Molecular Genetic Approach to Macular Degeneration E. M. Stone and V. C. Sheffield

Molecular Genetics of Retinoblastoma J. K. Cowell

Color Vision Defects J. Neitz and M. Neitz

X-linked Retinitis Pigmentosa M. A. Aldred, M. Jay and A. F. Wright

Congenital Stationary Night Blindness: A Critical Review for Molecular Approaches Heon and M. A. Musarella

Choroideremia F. P. M. Cremers and H.-H. Ropers

Norrie Disease A. A. B. Bergen, W Berger, Z.-Y. Chen, P. J. Diergaarde, E. M. Bleek.er-Wagemak.ers, E. M. Battinelli, M. Warburg, H.-H. Ropers and I. Craig

X-linked Juvenile Rednoschisis A. de la Chapelle, T. Alitalo and H. Forsius

Clinical and Genetic Heterogeneity of Usher Syndrome W. J. Kimberling, M. Weston and C. Moller


Marfan Syndrome P. Tsipouras and. M. W Kilpatrick

Lowe Oculocerebrorenal Syndrome I. Okabe and R. L. Nussbaum

Crystallin Genes and Cataract M. Cartier, L.-C. Tsui, S. P. Ball and N. H. Lubsen


Aniridia I. Hanson, T. Jordan and V. van Heyningen


Mitochondrial DNA Mutations and the Eye M. D. Brown, M. T. Lott and D. C. Wallace



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