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ARVO Annual Meeting Abstract May 2006

What Is the Reduced Risk of Carrier Status in Females of X–Linked Retinal Dystrophy Families When the Fundus and ERG Are Normal?

S.A. Jenkins; A.C. Bird; A.T. Moore; G.C. M. Black; A.G. Robson; A. Wright; A.J. Hardcastle; G.E. Holder; A.R. Webster

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1021.

ARVO Annual Meeting Abstract May 2006

The Utility of Parallel Genotyping With DNA Arrays in the Molecular Diagnosis of Early–Onset Retinal Dystrophy

A.R. Webster; N. Waseem; S.A. Jenkins; S.S. Bhattacharya; A.T. Moore; R.H. H. Henderson

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1689.

ARVO Annual Meeting Abstract May 2006

The Phenotypic Characteristics of Leber’s Congenital Amaurosis (LCA) Caused by Mutations in the CRB1 Gene

R.H. Henderson; F. Ikeji; G. Holder; A.R. Webster; A.T. Moore

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1694.

ARVO Annual Meeting Abstract May 2006

Detailed Phenotyping of an X–Linked Cone–Rod Dystrophy Pedigree and Exclusion of the CORDX1 and CORDX2 Loci

M. Michaelides; N.D. Ebenezer; G.E. Holder; A.G. Robson; A.T. Moore; A.J. Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):3286.

ARVO Annual Meeting Abstract May 2006

Exclusion of the Cone cGMP Phosphodiesterase Subunit Gene as a Cause of Cone Dystrophy With Supernormal Rod ERG

H. Wu; M. Michaelides; S.E. Wilkie; V. Mester; G.E. Holder; A.C. Bird; A.T. Moore; D.M. Hunt; A.R. Webster

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):3289.

ARVO Annual Meeting Abstract May 2005

Phenotypic Characterization of Patients With Autosomal Recessive Congenital Stationary Night Blindness (AR CSNB)

I.S. Audo; A.G. Robson; M.A. Brantley, Jr; A.R. Webster; A.C. Bird; A.T. Moore; G.E. Holder

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):543.

ARVO Annual Meeting Abstract May 2005

Comparison of Pattern ERG, Multifocal ERG and Psychophysical Correlates of Fundus Autofluorescence Abnormalities in Patients With Cone–rod (RPGR, RIM1) or Rod–cone Dystrophy

A.G. Robson; M. Michaelides; A.R. Webster; A.C. Bird; A.T. Moore; F.W. Fitzke; G.E. Holder

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):552.

ARVO Annual Meeting Abstract May 2005

No Association of the Angiotensin–converting Enzyme (ACE) Gene Insertion/Deletion Polymorphism With Age–related Macular Degeneration

H. Shahid; T. Sepp; J. Khan; D. Thurlby; M.M. Bradley; D. Clayton; A. Bird; A.T. Moore; J.R. W. Yates; AMD Genetics Study Group

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):3200.

ARVO Annual Meeting Abstract May 2005

Mutations in VMD2 Cause Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

B.P. Leroy; J. Yardley; N. Hart–Holden; B.A. Lafaut; B. Puech; M.A. Reddy; J.–J. De Laey; P. Kestelyn; A.T. Moore; G.C. M. Black

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):5250.

ARVO Annual Meeting Abstract May 2005

Cone–Rod Dystrophy, Intra–Familial Variability and Incomplete Penetrance Associated With the R172W Mutation in the Peripherin/RDS Gene

M. Michaelides; G.E. Holder; K. Bradshaw; D.M. Hunt; A.T. Moore

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1791.

ARVO Annual Meeting Abstract May 2005

Significance of the Usherin Cys759Phe Substitution in Non–Syndromic Retinal Dystrophy in the UK

S. Jenkins; Z. Saihan; E. Haralambous; N. Waseem; S.S. Bhattacharya; A.T. Moore; M. Bitner–Glindzicz; A.R. Webster

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1804.

ARVO Annual Meeting Abstract May 2005

Mutations in RPE65 Cause an Infantile Rod Cone Dystrophy and Absence of Retinal Autofluorescence

R.H. H. Henderson; N.H. Waseem; S.S. Bhattachyra; G. Holder; F. Ikeji; A.R. Webster; A.T. Moore

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1813.

ARVO Annual Meeting Abstract May 2005

Molecular Mechanism Underlying a Lamellar Pulverulent Cataract Associated With a Novel Connexin50 Mutation

A. Arora; P.J. Minogue; X. Liu; D.M. Hunt; A.T. Moore; L. Ebihara; E.C. Beyer; V.M. Berthoud

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1855.

ARVO Annual Meeting Abstract May 2005

Visual Function in Usher Syndrome

Z. Saihan; L. Cook; S.A. Jenkins; M. Guest; F.W. Fitzke; M. Bitner–Glindzicz; A.T. Moore; A.R. Webster

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1936.

ARVO Annual Meeting Abstract May 2004

Refinement of the Locus for X–Linked Congenital Cataract (CXN) and Positional Cloning of the Nance–Horan Syndrome (NHS) Gene

S.P. Brooks; N.D. Ebenezer; S. Poopalasundaram; E.R. Maher; P.J. Francis; A.T. Moore; A.J. Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):4737.

ARVO Annual Meeting Abstract May 2004

Fundus Autofluorescence in Patients with longstanding Leber Congenital Amaurosis

H.P. Scholl; V. Chong; A.G. Robson; G.E. Holder; A.T. Moore; A.C. Bird

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):5110.

ARVO Annual Meeting Abstract May 2004

CHARACTERIZATION OF ENHANCED S–CONE SYNDROME (ESCS).

I.S. Audo; M.M. Neveu; A.G. Robson; M. Michaelides; C.R. Hogg; A.R. Webster; A.T. Moore; A.C. Bird; G.E. Holder

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):5117.

ARVO Annual Meeting Abstract May 2004

A detailed study of the phenotype of an unusual progressive cone dystrophy with supernormal rod responses

M. Michaelides; G.E. Holder; A. Webster; D.M. Hunt; A.C. Bird; J.D. Mollon; A.T. Moore

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):5162.

ARVO Annual Meeting Abstract May 2004

The identification of novel mutations within RPGR ORF15 in patients with X–linked cone–rod dystrophy.

N.D. Ebenezer; S.A. Jenkins; A. Ambresin; A.R. Webster; A.T. Moore; A.J. Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):2467.

ARVO Annual Meeting Abstract May 2004

The value of ophthalmological surveillance for retinal angiomas in Von Hipple Lindau disease

V.M. Cohen; A.T. Moore

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):3564.

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