Medicine and Health Sciences | Open Access Articles

Retinal Histopathology Of An Xlrp Carrier With A Mutation In The Rpgr Exon Orf15, Gustavo Aguirre, Beverly Yashar, Sinoj John, Julie Smith, K Breuer, S Hiriyanna, Anand Swaroop, Ann Milam

Gustavo D. Aguirre, VMD, PhD

X-linked retinitis pigmentosa comprises the severe forms of RP, with early onset of night blindness, rapid constriction of visual fields and eventual loss of central acuity. Of the five distinct XLRP loci identified on the X chromosome, mutations have been found only in theRP2 and RPGR genes. Of these, mutations in RPGR are more common, particularly in a mutational hot spot that was identified in the newly discovered exon ORF15. We report on an extended family with a microdeletion in RPGR exon ORF15 and the retinal histopathology of a female carrier of this mutation. We found a 1 bp …

Go to article

Encapsulated Cell-Based Delivery Of Cntf Reduces Photoreceptor Degeneration In Animal Models Of Retinitis Pigmentosa, Weng Tao, Rong Wen, Moses B. Goddard, Sandy D. Sherman, Pam J. O'Rourke, Paul F. Stabila, William J. Bell, Brenda J. Dean, Konrad A. Kauper, Veronica A. Budz, William G. Tsiaras, Gregory M. Acland, Sue Pearce-Kelling, Alan Laties, Gustavo D. Aguirre

Gustavo D. Aguirre, VMD, PhD

Purpose: The objective of the present study was to evaluate the therapeutic efficacy of ciliary neurotrophic factor (CNTF) delivered through encapsulated cells directly into the vitreous of the eye in an rcd1 canine model of retinitis pigmentosa. The dose–range effect of the treatment was also investigated.

Methods: Polymer membrane capsules (1.0 cm in length and 1.0 mm in diameter) were loaded with mammalian cells that were genetically engineered to secrete CNTF. The cell-containing capsules were then surgically implanted into the vitreous of one eye of rcd1 dogs at 7 weeks of age, when retinal degeneration is in progress but not complete. The …

Go to article

Canine Cngb3 Mutations Establish Cone Degeneration As Orthologous To The Human Achromatopsia Locus Achm3, Duska J. Sidjanin, Jennifer K. Lowe, John L. Mcelwee, Bruce S. Milne, Taryn M. Phippen, David R. Sargan, Gustavo D. Aguirre, Gregory M. Acland, Elaine A. Ostrander

Gustavo D. Aguirre, VMD, PhD

Cone degeneration (cd ) is an autosomal recessive canine disease that occurs naturally in the Alaskan Malamute and German Shorthaired Pointer breeds. It is phenotypically similar to human achromatopsia, a heterogeneous autosomal recessive disorder associated with three distinct loci. Both the canine disease and its human counterparts are characterized by day-blindness and absence of retinal cone function in adults. We report linkage of the canine cd locus to marker C29.002 on canine chromosome 29 at recombination fraction 𝛉=0.0 with a maximum LOD score of 24.68 in a series of informative outbred pedigrees derived from cd-affected Alaskan Malamutes. Conserved gene order …

Go to article

Medicine and Health Sciences Commons^™

Full-Text Articles in Medicine and Health Sciences

Retinal Histopathology Of An Xlrp Carrier With A Mutation In The Rpgr Exon Orf15, Gustavo Aguirre, Beverly Yashar, Sinoj John, Julie Smith, K Breuer, S Hiriyanna, Anand Swaroop, Ann Milam

Gustavo D. Aguirre, VMD, PhD

Gustavo D. Aguirre, VMD, PhD

Canine Cngb3 Mutations Establish Cone Degeneration As Orthologous To The Human Achromatopsia Locus Achm3, Duska J. Sidjanin, Jennifer K. Lowe, John L. Mcelwee, Bruce S. Milne, Taryn M. Phippen, David R. Sargan, Gustavo D. Aguirre, Gregory M. Acland, Elaine A. Ostrander

Gustavo D. Aguirre, VMD, PhD