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Nrl is required for rod photoreceptor development
The protein neural retina leucine zipper (Nrl) is a basic motif–leucine zipper transcription factor that is preferentially expressed in rod photoreceptors. It acts synergistically with Crx toExpand
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Push-pull model of the primate photopic electroretinogram: a role for hyperpolarizing neurons in shaping the b-wave.
Existing models of the primate photopic electroretinogram (ERG) attribute the light-adapted b-wave to activity of depolarizing bipolar cells (DBCs), mediated through a release of potassium that isExpand
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PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F). Here we report thatExpand
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A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
Stargardt-like macular dystrophy (STGD3, MIM 600110) and autosomal dominant macular dystrophy (adMD) are inherited forms of macular degeneration characterized by decreased visual acuity, macularExpand
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Photopic ON- and OFF-pathway abnormalities in retinal dystrophies.
  • P. Sieving
  • Medicine
  • Transactions of the American Ophthalmological…
  • 1993
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Retinopathy induced in mice by targeted disruption of the rhodopsin gene
Retinitis pigmentosa (RP) represents the most common mendelian degenerative retinopathy of man, involving death of rod photoreceptors, cone cell degeneration, retinal vessel attenuation andExpand
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P23H rhodopsin transgenic rat: correlation of retinal function with histopathology.
PURPOSE To correlate retinal functional changes with structural changes in P23H rhodopsin transgenic rats as a model of autosomal dominant retinitis pigmentosa. METHODS P23H heterozygote (lines 1Expand
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Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants.
Neurotrophic factors are agents with a promising ability to retard progression of neurodegenerative diseases and are effective in slowing photoreceptor degeneration in animal models of retinitisExpand
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Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
The chromophore of the visual pigments, 11-cis retinal, is derived from vitamin A (all-trans retinol) through a series of reactions that take place in retinal pigment epithelium (RPE); (ref. 1). TheExpand
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A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. At least five loci have been mapped for XLRP; of these, RP2 and RP3 account forExpand
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