Shawn M. Ronan

Mutational Hot Spot Potential of a Novel Base Pair Mutation of the CSPG2 Gene in a Family With Wagner Syndrome

Shawn M. Ronan

OBJECTIVE: To report a 3-generation white family clinically diagnosed variably with Wagner, Stickler, and Jansen syndromes and screened for sequence variants in the COL2A1 and CSPG2 genes. Wagner syndrome is an autosomal dominant vitreoretinopathy with a predisposition to retinal detachment and cataracts. …

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Multiple Evanescent White Dot Syndrome in a Patient With Multifocal Choroiditis and Unilateral Hearing Loss

Shawn M. Ronan, Alexander Aizman, Richard Hackel, Stephen J. Saxe

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Multiple Intracranial Meningiomas Causing Papilledema and Visual Loss in a Patient With Nevoid Basal Cell Carcinoma Syndrome

Jonathan T. Pribila, Shawn M. Ronan, Jonathan D. Trobe

A 27-year-old man with nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) who had undergone craniospinal irradiation for a childhood brain stem medulloblastoma complained of progressive binocular visual loss. Ophthalmologic examination disclosed subnormal visual acuity and visual fields in both eyes attributed …

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RETINAL PIGMENT EPITHELIUM TEARS AFTER INTRAVITREAL INJECTION OF BEVACIZUMAB (AVASTIN) FOR NEOVASCULAR AGE-RELATED MACULAR DEGENERATION

Shawn M. Ronan, Pradeepa Yoganathan, Fred Y. Chien, Iñigo Corcóstegui et autres

BACKGROUND: Intravitreal bevacizumab (Avastin, Genentech, Inc., South San Francisco, CA) treatment of neovascular age-related macular degeneration (AMD) has become an important part of clinical retinal practice. We describe retinal pigment epithelium (RPE) tears that were noted after intravitreal injection of bevacizumab. METHODS: …

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Retinal Pigment Epithelium Tears After Intravitreal lnjection of Bevacizumab (Avastin) for Exudative Age-Related Macular Degeneration in Patients With Serous Pigment Epithelial Detachments

Shawn M. Ronan, Victor M. Elner, Mark W. Johnson, Stephen J. Saxe et autres

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Subgroup of Age–Related Macular Degeneration Demonstrates Panretinal Cone Dysfunction

Shawn M. Ronan, Steven Nusinowitz, John R. Heckenlively

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Senile panretinal cone dysfunction in age-related macular degeneration (AMD): a report of 52 amd patients compared to age-matched controls.

Shawn M. Ronan, Steve Nusinowitz, Anand Swaroop, John R. Heckenlively

PURPOSE: To test if patients with age-related macular degeneration (AMD) have normal panretinal function using standardized full-field electroretinograms (ERGs). METHODS: This is a retrospective study evaluating electroretinographic studies performed in patients with AMD to assess their panretinal function. Fifty-two individuals 55 years …

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New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17

Prasuna Paluru, Shawn M. Ronan, Elise Héon, Marcella Devoto et autres

PURPOSE: To map the gene(s) associated with autosomal dominant (AD) high-grade myopia. METHODS: A multigeneration English/Canadian family with AD severe myopia was ascertained. Myopes were healthy, with no clinical evidence of syndromic disease, anterior segment abnormalities, or glaucoma. The family contained 22 …

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Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis

Terri L. Young, Larry D. Atwood, Shawn M. Ronan, Alison B. Alvear et autres

INTRODUCTION: High myopia (>-6.00 diopters) is a complex common disorder that predisposes individuals to retinal detachment, glaucoma, macular degeneration, and premature cataracts. A recent linkage analysis of seven families with autosomal dominant high myopia has identified one locus (MYP2) for high myopia …

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Multiplexed short tandem repeat polymorphisms of the Weber 8A set of markers using tailed primers and infrared fluorescence detection

William S. Oetting, Catherine Armstrong, Shawn M. Ronan, Terri L. Young et autres

Short tandem repeat polymorphism (STRP) markers have become important reagents for mapping genetic diseases. These markers are available as screening sets, which are located in all chromosomes at discrete intervals, allowing the entire genome to be analyzed. Mapping studies that include many …

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A Second Locus for Familial High Myopia Maps to Chromosome 12q

Terri L. Young, Shawn M. Ronan, Alison B. Alvear, Scott C. Wildenberg et autres

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Evidence That a Locus for Familial High Myopia Maps to Chromosome 18p

Terri L. Young, Shawn M. Ronan, Leslie A. Drahozal, Scott C. Wildenberg et autres

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