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81 results

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Quoted phrase not found in phrase index: "Achromatopsia 7"
Page 1
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP. Mendell JR, et al. Mol Ther. 2021 Feb 3;29(2):464-488. doi: 10.1016/j.ymthe.2020.12.007. Epub 2020 Dec 10. Mol Ther. 2021. PMID: 33309881 Free PMC article. Review.
Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases affect over 30 million Americans. For more than 30 years, hundreds of researchers have maintained that genetic modifications would provide effective treatments for many inherited human …
Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases affect over 30 million Americans. For more th …
Ocular abnormalities in multi-transfused beta-thalassemia patients.
Jafari R, Heydarian S, Karami H, Shektaei MM, Dailami KN, Amiri AA, Rezaee MR, Far AA. Jafari R, et al. Indian J Ophthalmol. 2015 Sep;63(9):710-5. doi: 10.4103/0301-4738.170986. Indian J Ophthalmol. 2015. PMID: 26632126 Free PMC article.
Ocular examination included visual acuity, refraction testing, slit lamp examination, funduscopy, tonometry, perimetry, tear break-up time test, and color vision testing were performed for all the participants. We computed the frequency and duration of blood transfu …
Ocular examination included visual acuity, refraction testing, slit lamp examination, funduscopy, tonometry, perimetry, tear break-up time t …
Lanthony D15 for Occupational Testing: Short-term Repeatability.
Lo G, Ng JS. Lo G, et al. Optom Vis Sci. 2023 Feb 1;100(2):158-163. doi: 10.1097/OPX.0000000000001991. Epub 2023 Jan 18. Optom Vis Sci. 2023. PMID: 36649587 Clinical Trial.
METHODS: Twenty male subjects (mean [standard deviation] age, 27.2 [4.3] years) with congenital color vision deficiency, ranging from mild to severe, participated in this single-visit study. Visual acuity, color vision book screening, Farnsworth D15, a …
METHODS: Twenty male subjects (mean [standard deviation] age, 27.2 [4.3] years) with congenital color vision deficiency, rangi …
Neuro-ophthalmic Disease in Pediatric Glaucoma Practice.
Tirpack AR, Vanner EA, Sheheitli H, Mendoza CE, Grajewski A, Chang TC. Tirpack AR, et al. J Glaucoma. 2020 Feb;29(2):117-123. doi: 10.1097/IJG.0000000000001416. J Glaucoma. 2020. PMID: 31821182
The most common reasons for referral included suspected nonglaucomatous optic neuropathy (n=14), optic disc swelling (n=7), color vision deficiency (n=6), and nonglaucomatous visual field defect (n=4). ...Color vision abnormality, optic nerve pa …
The most common reasons for referral included suspected nonglaucomatous optic neuropathy (n=14), optic disc swelling (n=7), color …
A Computer-Based Farnsworth-Munsell 100-Hue (CFM-100) Test in Pilots' Medical Assessments.
Zhang Y, Ma J, Cheng S, Hu W. Zhang Y, et al. Aerosp Med Hum Perform. 2022 Apr 1;93(4):362-367. doi: 10.3357/AMHP.5943.2022. Aerosp Med Hum Perform. 2022. PMID: 35354515
OBJECTIVES: This study investigated the effectiveness and identified the cutoff values of the computer-based Farnsworth-Munsell 100-Hue (CFM-100) test for screening color vision deficiencies in the pre-employment examination of civil aviators in China.METHODS: First …
OBJECTIVES: This study investigated the effectiveness and identified the cutoff values of the computer-based Farnsworth-Munsell 100-Hue (CFM …
Recurrent neuroretinitis.
Purvin VA, Chioran G. Purvin VA, et al. Arch Ophthalmol. 1994 Mar;112(3):365-71. doi: 10.1001/archopht.1994.01090150095030. Arch Ophthalmol. 1994. PMID: 8129663
OBJECTIVE: To characterize a distinct disorder of the optic nerve that manifests as recurrent episodes of acute, monocular disc edema and macular star formation. DESIGN: Description of the clinical features and laboratory findings in a group of patients with this disorder. …
OBJECTIVE: To characterize a distinct disorder of the optic nerve that manifests as recurrent episodes of acute, monocular disc edema and ma …
Transient postoperative prosopagnosia.
Mesad S, Laff R, Devinsky O. Mesad S, et al. Epilepsy Behav. 2003 Oct;4(5):567-70. doi: 10.1016/j.yebeh.2003.07.012. Epilepsy Behav. 2003. PMID: 14527501
Preoperative neuropsychological evaluation was normal, and neurological examination revealed only a left superior quadrant achromatopsia. MRI revealed a circumscribed lesion in the right inferolateral temporo-occipital junction. ...She could, however, recognize familiar vo …
Preoperative neuropsychological evaluation was normal, and neurological examination revealed only a left superior quadrant achromatopsia …
Prevalence of colour vision deficiency in the Republic of Ireland schoolchildren and associated socio-demographic factors.
Harrington S, Davison PA, O'dwyer V. Harrington S, et al. Clin Exp Optom. 2021 Jan;104(1):48-55. doi: 10.1111/cxo.13072. Clin Exp Optom. 2021. PMID: 32285548 Free article.
CLINICAL RELEVANCE: Early screening is essential to counsel schoolchildren with congenital colour vision deficiency (CVD) in determining their future career path and to advise teachers of the impact of CVD on classroom difficulties. ...METHODS: A total of 1,626 scho …
CLINICAL RELEVANCE: Early screening is essential to counsel schoolchildren with congenital colour vision deficiency (CVD) in d …
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J, Stephenson KAJ, Dockery A, Turner J, O'Byrne JJ, Fitzsimon S, Farrar GJ, Flitcroft DI, Keegan DJ. Zhu J, et al. Genes (Basel). 2022 Mar 29;13(4):615. doi: 10.3390/genes13040615. Genes (Basel). 2022. PMID: 35456422 Free PMC article.
Children attending a tertiary care paediatric ophthalmology department with phenotypic (i.e., clinical and/or electrophysiologic) evidence suggestive of IRD were contacted for genetic testing during the SARS-CoV-2-19 pandemic using a "telegenetics" approach. ...Of 70 patie …
Children attending a tertiary care paediatric ophthalmology department with phenotypic (i.e., clinical and/or electrophysiologic) evi …
Ocular safety in patients using sildenafil citrate therapy for erectile dysfunction.
Laties A, Sharlip I. Laties A, et al. J Sex Med. 2006 Jan;3(1):12-27. doi: 10.1111/j.1743-6109.2005.00194.x. J Sex Med. 2006. PMID: 16409214 Review.
Sildenafil also has a weaker inhibitory action on PDE6, located in the rod and cone photoreceptors. Modest, transient visual symptoms, typically blue tinge to vision, increased brightness of lights, and blurry vision, have been reported with sildenafil use and occur …
Sildenafil also has a weaker inhibitory action on PDE6, located in the rod and cone photoreceptors. Modest, transient visual symptoms, typic …
81 results