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Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.
Sun W, Li S, Xiao X, Wang P, Zhang Q. Sun W, et al. Mol Vis. 2020 Aug 22;26:588-602. eCollection 2020. Mol Vis. 2020. PMID: 32913385 Free PMC article.
PURPOSE: Achromatopsia is a congenital autosomal recessive cone disorder, and it has been found to be associated with six genes. ...METHODS: Biallelic variants in six achromatopsia-related genes, namely, CNGA3, CNGB3, GNAT2, ATF6, PDE6C, and PDE6H, were analyzed bas …
PURPOSE: Achromatopsia is a congenital autosomal recessive cone disorder, and it has been found to be associated with six genes. ...M …
Orbital Radiotherapy Combined With Corticosteroid Treatment for Thyroid Eye Disease-Compressive Optic Neuropathy.
Gold KG, Scofield S, Isaacson SR, Stewart MW, Kazim M. Gold KG, et al. Ophthalmic Plast Reconstr Surg. 2018 Mar/Apr;34(2):172-177. doi: 10.1097/IOP.0000000000001003. Ophthalmic Plast Reconstr Surg. 2018. PMID: 29517594
Study was conducted in compliance with Health Insurance Portability and Accountability Act. One hundred four patients (163 orbits) with a mean age of 61.7 years met inclusion criteria. Seventy-four percent (77/104) were female, and 32.7% (34/104) were current or pre …
Study was conducted in compliance with Health Insurance Portability and Accountability Act. One hundred four patients (163 orbits) with a me …
Optometric management of patients with Alzheimer's disease.
Baker DR, Mendez MF, Townsend JC, Ilsen PF, Bright DC. Baker DR, et al. J Am Optom Assoc. 1997 Aug;68(8):483-94. J Am Optom Assoc. 1997. PMID: 9279048 Review.
BACKGROUND: The earliest symptoms of Alzheimer's disease (AD) may be visual. AD is an age-related, progressive dementia. At least 7% of Americans over 65 years of age are afflicted, and it ranks as the fourth leading cause of death in the United States. ...RESULTS: Abnorma …
BACKGROUND: The earliest symptoms of Alzheimer's disease (AD) may be visual. AD is an age-related, progressive dementia. At least 7% …
Clinical profile and visual outcomes after treatment in patients with dysthyroid optic neuropathy.
Jeon C, Shin JH, Woo KI, Kim YD. Jeon C, et al. Korean J Ophthalmol. 2012 Apr;26(2):73-9. doi: 10.3341/kjo.2012.26.2.73. Epub 2012 Mar 22. Korean J Ophthalmol. 2012. PMID: 22511831 Free PMC article.
Visual field test results revealed defects in 88.7% of DON eyes; afferent pupillary defects in 63.2%; reduced color vision in 78.5%; and abnormal visual evoked potentials in 84%. ...Recurrences occurred in 7 patients who had not received …
Visual field test results revealed defects in 88.7% of DON eyes; afferent pupillary defects in 63.2%; reduced color …
Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health.
Dubis AM, Cooper RF, Aboshiha J, Langlo CS, Sundaram V, Liu B, Collison F, Fishman GA, Moore AT, Webster AR, Dubra A, Carroll J, Michaelides M. Dubis AM, et al. Invest Ophthalmol Vis Sci. 2014 Oct 2;55(11):7303-11. doi: 10.1167/iovs.14-14225. Invest Ophthalmol Vis Sci. 2014. PMID: 25277229 Free PMC article.
PURPOSE: Gene therapy trials for inherited photoreceptor disorders are planned. ...Here we present criteria to assess residual photoreceptor integrity in achromatopsia (ACHM). METHODS: Two AOSLOs, at the Medical College of Wisconsin and Moorfields Eye Hospital, were …
PURPOSE: Gene therapy trials for inherited photoreceptor disorders are planned. ...Here we present criteria to assess residual photor …
Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia.
Ye GJ, Budzynski E, Sonnentag P, Nork TM, Miller PE, Sharma AK, Ver Hoeve JN, Smith LM, Arndt T, Calcedo R, Gaskin C, Robinson PM, Knop DR, Hauswirth WW, Chulay JD. Ye GJ, et al. Hum Gene Ther Clin Dev. 2016 Mar;27(1):37-48. doi: 10.1089/humc.2015.164. Hum Gene Ther Clin Dev. 2016. PMID: 27003753 Free PMC article.
Applied Genetic Technologies Corporation (AGTC) is developing rAAV2tYF-PR1.7-hCNGB3, a recombinant adeno-associated viral (rAAV) vector expressing the human CNGB3 gene, for treatment of achromatopsia, an inherited retinal disorder characterized by markedly reduced v …
Applied Genetic Technologies Corporation (AGTC) is developing rAAV2tYF-PR1.7-hCNGB3, a recombinant adeno-associated viral (rAAV) vect …
Safety and Biodistribution Evaluation in CNGB3-Deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia.
Ye GJ, Budzynski E, Sonnentag P, Nork TM, Miller PE, McPherson L, Ver Hoeve JN, Smith LM, Arndt T, Mandapati S, Robinson PM, Calcedo R, Knop DR, Hauswirth WW, Chulay JD. Ye GJ, et al. Hum Gene Ther Clin Dev. 2016 Mar;27(1):27-36. doi: 10.1089/humc.2015.163. Hum Gene Ther Clin Dev. 2016. PMID: 27003752 Free PMC article.
Applied Genetic Technologies Corporation (AGTC) is developing rAAV2tYF-PR1.7-hCNGB3, a recombinant adeno-associated virus (rAAV) vector expressing the human CNGB3 gene, for treatment of achromatopsia, an inherited retinal disorder characterized by markedly reduced v …
Applied Genetic Technologies Corporation (AGTC) is developing rAAV2tYF-PR1.7-hCNGB3, a recombinant adeno-associated virus (rAAV) vect …
Visual electrophysiological screening in diagnosing infants with congenital nystagmus.
Brecelj J, Stirn-Kranjc B. Brecelj J, et al. Clin Neurophysiol. 2004 Feb;115(2):461-70. doi: 10.1016/j.clinph.2003.10.011. Clin Neurophysiol. 2004. PMID: 14744589
The first recording was performed before the age of 1 year (age 2-11 months, mean age 6.8 months). Follow-up was performed between the ages of 7 months and 6 years (mean age 2.7 years). ERG was detected to flash stimulus and VEP to flash and/or pattern-reversal stim …
The first recording was performed before the age of 1 year (age 2-11 months, mean age 6.8 months). Follow-up was performed between the ages …
Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence.
Sumaroka A, Garafalo AV, Semenov EP, Sheplock R, Krishnan AK, Roman AJ, Jacobson SG, Cideciyan AV. Sumaroka A, et al. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2551-2562. doi: 10.1167/iovs.19-27156. Invest Ophthalmol Vis Sci. 2019. PMID: 31212307 Free PMC article.
Application of machine learning predictions to LCA within the residual macular island of photoreceptor structure showed differences between predicted and measured sensitivities defining treatment potential. In patients with retained vision, the treatment potential was 4.6 …
Application of machine learning predictions to LCA within the residual macular island of photoreceptor structure showed differences between …
14 results