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Ophthalmic Genetics, Volume 24 Issue 4 2003

Ophthalmic Genetics is moving!
Official Journal of the International Society for Genetic Eye Disease and Retinoblastoma
ISSN: 1744-5094 (electronic) 1381-6810 (paper)
Publication Frequency: 4 issues per year
Subjects: Genetics; Ophthalmology;
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Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome
Lisa A. Schimmenti;  Glenda S. Manligas; Paul A. Sieving
Pages 191 – 202
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Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene
Günther Rudolph;  Markus Preising;  Petros Kalpadakis;  Christos Haritoglou;  Gabriele E. Lang; Birgit Lorenz
Pages 203 – 214
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Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes
Sten Andréasson;  Debra K. Breuer;  Louise Eksandh;  Vesna Ponjavic;  Christina Frennesson;  Suja Hiriyanna;  Elena Filippova;  Beverly M. Yashar; Anand Swaroop
Pages 215 – 223
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A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing
J. Greenberg;  L. Roberts; R. Ramesar
Pages 225 – 232
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Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene
Lotta Gränse;  Ingar Bergstrand;  Dawn Thiselton;  Vesna Ponjavic;  Anders Heijl;  Marcela Votruba; Sten Andréasson
Pages 233 – 245
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Retinopathy of incontinentia pigmenti: a case report with thirteen years follow-up
Carolyn A. Cates;  Samantha S. Dandekar;  Declan W. Flanagan; Anthony T. Moore
Pages 247 – 252
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Addendum to ABCR is a major retinal gene: a mini review
Robert K. Koenekoop
Pages 253 – 254
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Subject index
Pages 255 – 256
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Author index
Pages 257 – 258
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Cumulative Table of Contents
Pages 259 – 260
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