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.
Preface to the Series
Preface
Contributors
Background to Molecular Genetic Principles and Techniques M. B. Gorin and A. F. Wright
INVERTEBRATES
Retinal Degeneration Mutants of Drosophila W. L Pak
VERTEBRATES CHOROID AND RETINA
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
VITREOUS/LENS
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
ANTERIOR SEGMENT
Aniridia I. Hanson, T. Jordan and V. van Heyningen
METABOLIC
Mitochondrial DNA Mutations and the Eye M. D. Brown, M. T. Lott and D. C. Wallace
GLOSSARY
INDEX
Biography
Alan F. Wright
