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162 results on '"McLean, Rebecca J."'

5. Achromatopsia—Visual Cortex Stability and Plasticity in the Absence of Functional Cones

Author

Molz, Barbara, primary, Herbik, Anne, additional, Baseler, Heidi A., additional, de Best, Peter, additional, Raz, Noa, additional, Gouws, Andre, additional, Ahmadi, Khazar, additional, Lowndes, Rebecca, additional, McLean, Rebecca J., additional, Gottlob, Irene, additional, Kohl, Susanne, additional, Choritz, Lars, additional, Maguire, John, additional, Kanowski, Martin, additional, Käsmann-Kellner, Barbara, additional, Wieland, Ilse, additional, Banin, Eyal, additional, Levin, Netta, additional, Morland, Antony B., additional, and Hoffmann, Michael B., additional

Published
2023
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11. Abnormal foveal morphology in carriers of oculocutaneous albinism.

Author

Kuht, Helen J., Thomas, Mervyn G., McLean, Rebecca J., Sheth, Viral, Proudlock, Frank A., and Gottlob, Irene

Abstract

Background/aims To investigate the foveal morphology in carriers of oculocutaneous albinism (OCA) using spectral domain optical coherence tomography (SD-OCT). A cross-sectional, observational study. Methods Handheld SD-OCT (Envisu C2300) was used to acquire horizontal scans through the centre of the fovea in biological parents of patients with OCA (n=28; mean age±SD=40.43±8.07 years) and age-matched and ethnicity-matched controls (n=28; mean age±SD=38.04±10.27 years). Sequence analysis was performed for variants in known genes associated with OCA. Best-corrected visual acuity (BCVA), presence of foveal hypoplasia and grade, foveal, parafoveal and perifoveal thickness measurements of total retinal layers (TRL), inner retinal layers (IRL) and outer retinal layers (ORL) thickness were measured. Results Foveal hypoplasia was identified in 32.14% of OCA carriers; grade 1 in all cases. OCA carriers demonstrated significant thicker TRL thickness (median difference: 13.46 µm, p=0.009) and IRL thickness (mean difference: 8.98 µm, p<0.001) at the central fovea compared with controls. BCVA of carriers was between -0.16 and 0.18 logMAR (mean: 0.0 logMAR). No significant differences in BCVA was noted between OCA carriers or controls (p=0.83). In the OCA carriers, we identified previously reported pathogenic variants in TYR, OCA2 and SLC45A2, novel OCA2 variants (n=3) and heterozygosity of the pathogenic TYR haplotype. Conclusion We have, for the first time, identified foveal abnormalities in OCA carriers. This provides clinical value, particularly in cases where limited phenotype data are available. Our findings raise the possibility that previously reported mild cases of foveal hypoplasia or isolated foveal hypoplasia could correspond to OCA carrier status. [ABSTRACT FROM AUTHOR]

Published
2023
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12. Genotypic and Phenotypic Spectrum of Foveal Hypoplasia

Author

Kuht, Helen J., primary, Maconachie, Gail D.E., additional, Han, Jinu, additional, Kessel, Line, additional, van Genderen, Maria M., additional, McLean, Rebecca J., additional, Hisaund, Michael, additional, Tu, Zhanhan, additional, Hertle, Richard W., additional, Gronskov, Karen, additional, Bai, Dayong, additional, Wei, Aihua, additional, Li, Wei, additional, Jiao, Yonghong, additional, Smirnov, Vasily, additional, Choi, Jae-Hwan, additional, Tobin, Martin D., additional, Sheth, Viral, additional, Purohit, Ravi, additional, Dawar, Basu, additional, Girach, Ayesha, additional, Strul, Sasha, additional, May, Laura, additional, Chen, Fred K., additional, Heath Jeffery, Rachael C., additional, Aamir, Abdullah, additional, Sano, Ronaldo, additional, Jin, Jing, additional, Brooks, Brian P., additional, Kohl, Susanne, additional, Arveiler, Benoit, additional, Montoliu, Lluis, additional, Engle, Elizabeth C., additional, Proudlock, Frank A., additional, Nishad, Garima, additional, Pani, Prateek, additional, Varma, Girish, additional, Gottlob, Irene, additional, and Thomas, Mervyn G., additional

Published
2022
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13. Genotypic and Phenotypic Spectrum of Foveal Hypoplasia:A Multicenter Study

Author

Kuht, Helen J., Maconachie, Gail D.E., Han, Jinu, Kessel, Line, van Genderen, Maria M., McLean, Rebecca J., Hisaund, Michael, Tu, Zhanhan, Hertle, Richard W., Grønskov, Karen, Bai, Dayong, Wei, Aihua, Li, Wei, Jiao, Yonghong, Smirnov, Vasily, Choi, Jae Hwan, Tobin, Martin D., Sheth, Viral, Purohit, Ravi, Dawar, Basu, Girach, Ayesha, Strul, Sasha, May, Laura, Chen, Fred K., Heath Jeffery, Rachael C., Aamir, Abdullah, Sano, Ronaldo, Jin, Jing, Brooks, Brian P., Kohl, Susanne, Arveiler, Benoit, Montoliu, Lluis, Engle, Elizabeth C., Proudlock, Frank A., Nishad, Garima, Pani, Prateek, Varma, Girish, Gottlob, Irene, Thomas, Mervyn G., Kuht, Helen J., Maconachie, Gail D.E., Han, Jinu, Kessel, Line, van Genderen, Maria M., McLean, Rebecca J., Hisaund, Michael, Tu, Zhanhan, Hertle, Richard W., Grønskov, Karen, Bai, Dayong, Wei, Aihua, Li, Wei, Jiao, Yonghong, Smirnov, Vasily, Choi, Jae Hwan, Tobin, Martin D., Sheth, Viral, Purohit, Ravi, Dawar, Basu, Girach, Ayesha, Strul, Sasha, May, Laura, Chen, Fred K., Heath Jeffery, Rachael C., Aamir, Abdullah, Sano, Ronaldo, Jin, Jing, Brooks, Brian P., Kohl, Susanne, Arveiler, Benoit, Montoliu, Lluis, Engle, Elizabeth C., Proudlock, Frank A., Nishad, Garima, Pani, Prateek, Varma, Girish, Gottlob, Irene, and Thomas, Mervyn G.

Abstract

Purpose: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). Design: Multicenter, observational study. Participants: A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 centers in 9 countries (n = 523) or extracted from publicly available datasets from previously reported literature (n = 384). Methods: Individuals with a confirmed molecular diagnosis and availability of foveal OCT scans were identified from 12 centers or from the literature between January 2011 and March 2021. A genetic diagnosis was confirmed by sequence analysis. Grading of FH was derived from OCT scans. Main Outcome Measures: Grade of FH, presence or absence of photoreceptor specialization (PRS+ vs. PRS–), molecular diagnosis, and visual acuity (VA). Results: The most common genetic etiology for typical FH in our cohort was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and FRMD7 (3.5%) variants. AHR variants were rare (0.4%). Atypical FH was seen in 67.4% of achromatopsia cases. Atypical FH in achromatopsia had significantly worse VA than typical FH (P < 0.0001). There was a significant difference in the spectrum of FH grades based on the molecular diagnosis (chi-square = 60.4, P < 0.0001). All SLC38A8 cases were PRS– (P = 0.003), whereas all FRMD7 cases were PRS+ (P < 0.0001). Analysis of albinism subtypes revealed a significant difference in the grade of FH (chi-square = 31.4, P < 0.0001) and VA (P = 0.0003) between oculocutaneous albinism (OCA) compared with ocular albinism (OA) and Hermansky–Pudlak syndrome (HPS). Ocular albinism and HPS demonstrated higher grades of FH and worse VA than OCA. There was a significant difference (P < 0.0001) in VA between FRMD7 variants compared with other diagnoses associated with FH. Conclusions: We characterized the phenotypic and genotypic spectrum of FH. Atypical FH is associated with a worse prognosis than all other forms

Published
2022

14. Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study

Author

MS Oogheelkunde, Child Health, Kuht, Helen J., Maconachie, Gail D.E., Han, Jinu, Kessel, Line, van Genderen, Maria M., McLean, Rebecca J., Hisaund, Michael, Tu, Zhanhan, Hertle, Richard W., Gronskov, Karen, Bai, Dayong, Wei, Aihua, Li, Wei, Jiao, Yonghong, Smirnov, Vasily, Choi, Jae Hwan, Tobin, Martin D., Sheth, Viral, Purohit, Ravi, Dawar, Basu, Girach, Ayesha, Strul, Sasha, May, Laura, Chen, Fred K., Heath Jeffery, Rachael C., Aamir, Abdullah, Sano, Ronaldo, Jin, Jing, Brooks, Brian P., Kohl, Susanne, Arveiler, Benoit, Montoliu, Lluis, Engle, Elizabeth C., Proudlock, Frank A., Nishad, Garima, Pani, Prateek, Varma, Girish, Gottlob, Irene, Thomas, Mervyn G., MS Oogheelkunde, Child Health, Kuht, Helen J., Maconachie, Gail D.E., Han, Jinu, Kessel, Line, van Genderen, Maria M., McLean, Rebecca J., Hisaund, Michael, Tu, Zhanhan, Hertle, Richard W., Gronskov, Karen, Bai, Dayong, Wei, Aihua, Li, Wei, Jiao, Yonghong, Smirnov, Vasily, Choi, Jae Hwan, Tobin, Martin D., Sheth, Viral, Purohit, Ravi, Dawar, Basu, Girach, Ayesha, Strul, Sasha, May, Laura, Chen, Fred K., Heath Jeffery, Rachael C., Aamir, Abdullah, Sano, Ronaldo, Jin, Jing, Brooks, Brian P., Kohl, Susanne, Arveiler, Benoit, Montoliu, Lluis, Engle, Elizabeth C., Proudlock, Frank A., Nishad, Garima, Pani, Prateek, Varma, Girish, Gottlob, Irene, and Thomas, Mervyn G.

Published
2022

16. Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia

Author

Molz, Barbara, primary, Herbik, Anne, additional, Baseler, Heidi A., additional, de Best, Pieter B., additional, Vernon, Richard W., additional, Raz, Noa, additional, Gouws, Andre D., additional, Ahmadi, Khazar, additional, Lowndes, Rebecca, additional, McLean, Rebecca J., additional, Gottlob, Irene, additional, Kohl, Susanne, additional, Choritz, Lars, additional, Maguire, John, additional, Kanowski, Martin, additional, Käsmann-Kellner, Barbara, additional, Wieland, Ilse, additional, Banin, Eyal, additional, Levin, Netta, additional, Hoffmann, Michael B., additional, and Morland, Antony B., additional

Published
2022
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18. Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia

Author

Lowndes, Rebecca, primary, Molz, Barbara, additional, Warriner, Lucy, additional, Herbik, Anne, additional, de Best, Pieter B., additional, Raz, Noa, additional, Gouws, Andre, additional, Ahmadi, Khazar, additional, McLean, Rebecca J., additional, Gottlob, Irene, additional, Kohl, Susanne, additional, Choritz, Lars, additional, Maguire, John, additional, Kanowski, Martin, additional, Käsmann-Kellner, Barbara, additional, Wieland, Ilse, additional, Banin, Eyal, additional, Levin, Netta, additional, Hoffmann, Michael B., additional, Morland, Antony B., additional, and Baseler, Heidi A., additional

Published
2021
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19. Anatomical changes to primary visual cortex in the congenital absence of cone input

Author

Molz, Barbara, primary, Herbik, Anne, additional, Baseler, Heidi, additional, de Best, Pieter B., additional, Vernon, Richard, additional, Raz, Noa, additional, Gouws, André, additional, Ahmadi, Khazar, additional, Lowndes, Rebecca, additional, McLean, Rebecca J., additional, Gottlob, Irene, additional, Kohl, Susanne, additional, Choritz, Lars, additional, Maguire, John, additional, Kanowski, Martin, additional, Käsmann-Kellner, Barbara, additional, Wieland, Ilse, additional, Banin, Eyal, additional, Levin, Netta, additional, Hoffmann, Michael B., additional, and Morland, Antony, additional

Published
2021
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22. Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia

Author

Molz, Barbara, primary, Herbik, Anne, additional, Baseler, Heidi A., additional, de Best, Pieter B., additional, Vernon, Richard, additional, Raz, Noa, additional, Gouws, Andre, additional, Ahmadi, Khazar, additional, Lowndes, Rebecca, additional, McLean, Rebecca J., additional, Gottlob, Irene, additional, Kohl, Susanne, additional, Choritz, Lars, additional, Maguire, John, additional, Kanowski, Martin, additional, Käsmann-Kellner, Barbara, additional, Wieland, Ilse, additional, Banin, Eyal, additional, Levin, Netta, additional, Hoffmann, Michael B., additional, and Morland, Antony B., additional

Published
2021
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24. Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

Author

Thomas, Mervyn G., primary, Maconachie, Gail D. E., additional, Kuht, Helen J., additional, Chan, Wai-Man, additional, Sheth, Viral, additional, Hisaund, Michael, additional, McLean, Rebecca J., additional, Barry, Brenda, additional, Al-Diri, Bashir, additional, Proudlock, Frank A., additional, Tu, Zhanhan, additional, Engle, Elizabeth C., additional, and Gottlob, Irene, additional

Published
2021
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32. High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia

Author

Pilat, Anastasia, Sibley, Daniel, McLean, Rebecca J., Proudlock, Frank A., and Gottlob, Irene

Subjects
logMAR, logarithm of the minimum angle of resolution, RPE, retinal pigment epithelium, OCT, optical coherence tomography, OPL, outer plexiform layer, SOD, septo-optic-dysplasia, genetic structures, GCL, ganglion cell layer, INL, inner nuclear layer, IPL, inner plexiform layer, SD OCT, spectral-domain optical coherence tomography, IS, inner segment, eye diseases, ONHD, optic nerve head drusen, Ophthalmology, ONH, optic nerve hypoplasia, Original Article, RNFL, retinal nerve fiber layer, sense organs, OS, outer segment
Abstract

Purpose To investigate the optic nerve and macular morphology in patients with optic nerve hypoplasia (ONH) using spectral-domain optical coherence tomography (SD OCT). Design Prospective, cross-sectional, observational study. Subjects A total of 16 participants with ONH (10 female and 6 male; mean age, 17.2 years; 6 bilateral involvement) and 32 gender-, age-, ethnicity-, and refraction-matched healthy controls. Methods High-resolution SD OCT (Copernicus [Optopol Technology S.A., Zawiercie, Poland], 3 μm resolution) and handheld SD OCT (Bioptigen Inc [Research Triangle Park, NC], 2.6 μm resolution) devices were used to acquire horizontal scans through the center of the optic disc and macula. Main Outcome Measures Horizontal optic disc/cup and rim diameters, cup depth, peripapillary retinal nerve fiber layer (RNFL), and thickness of individual retinal layers in participants with ONH and in controls. Results Patients with ONH had significantly smaller discs (P < 0.03 and P < 0.001 compared with unaffected eye and healthy controls, respectively), horizontal cup diameter (P < 0.02 for both), and cup depth (P 80%. Conclusions Our study provides evidence of retinal changes in ONH. In addition to thinning of retina layers mainly involving the RNFL and GCL, signs reminiscent of foveal hypoplasia were observed in patients with ONH. Optic nerve and foveal parameters measured using OCT showed high sensitivity and specificity for detecting ONH, demonstrating their useful for clinical diagnosis.

Published
2015
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33. In vivo morphology of the optic nerve and retina in patients with Parkinson’s disease

Author

Pilat, Anastasia, McLean, Rebecca J., Proudlock, Frank A., Maconachie, Gail D.E., Sheth, Viral, Rajabally, Yusuf, and Gottlob, Irene

Subjects
genetic structures, sense organs, eye diseases
Abstract

PURPOSE. To investigate optic nerve (ON) and macular morphology in patients with Parkinson’s disease (PD) using spectral-domain optical coherence tomography (SD-OCT). SUBJECTS. Twenty-five participants with PD (19 males and 6 females; mean age 60.79; SD 6 9.24) and 25 sex-, age-, ethnicity-, and refraction-matched healthy controls. METHODS. A high-resolution SD-OCT device was used to acquire scans in 25 participants with PD (mean age 60.79; 6 SD 9.24) and 25 sex-, age-, ethnicity-, and refraction-matched healthy controls. Main outcome measures included optic nerve head parameters (disc/cup diameters/ areas, cup/rim volumes, cup depth, cup/disc ratio; peripapillary retinal nerve fiber layer [ppRNFL] thickness), retinal thickness (in inner and outer annuli around the foveal center) and thickness of individual retinal layers. RESULTS. Our study showed significant ppRNFL thinning in PD patients in all quadrants (P

Published
2016

39. In Vivo Foveal Development Using Optical Coherence Tomography

Author

Lee, Helena, primary, Purohit, Ravi, additional, Patel, Aarti, additional, Papageorgiou, Eleni, additional, Sheth, Viral, additional, Maconachie, Gail, additional, Pilat, Anastasia, additional, McLean, Rebecca J., additional, Proudlock, Frank A., additional, and Gottlob, Irene, additional

Published
2015
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41. Retinal development in albinism: a prospective study using optical coherence tomography in infants and young children

Author

Lee, Helena, primary, Purohit, Ravi, additional, Sheth, Viral, additional, Papageorgiou, Eleni, additional, Maconachie, Gail, additional, McLean, Rebecca J, additional, Patel, Aarti, additional, Pilat, Anastasia, additional, Anwar, Samira, additional, Sarvanathan, Nagini, additional, Proudlock, Frank A, additional, and Gottlob, Irene, additional

Published
2015
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49. Erratum: Corrigendum: Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

Author

Tarpey, Patrick, primary, Thomas, Shery, additional, Sarvananthan, Nagini, additional, Mallya, Uma, additional, Lisgo, Steven, additional, Talbot, Chris J, additional, Roberts, Eryl O, additional, Awan, Musarat, additional, Surendran, Mylvaganam, additional, McLean, Rebecca J, additional, Reinecke, Robert D, additional, Langmann, Andrea, additional, Lindner, Susanne, additional, Koch, Martina, additional, Jain, Sunila, additional, Woodruff, Geoffrey, additional, Gale, Richard P, additional, Degg, Chris, additional, Droutsas, Konstantinos, additional, Asproudis, Ioannis, additional, Zubcov, Alina A, additional, Pieh, Christina, additional, Veal, Colin D, additional, Machado, Rajiv D, additional, Backhouse, Oliver C, additional, Baumber, Laura, additional, Constantinescu, Cris S, additional, Brodsky, Michael C, additional, Hunter, David G, additional, Hertle, Richard W, additional, Read, Randy J, additional, Edkins, Sarah, additional, O'Meara, Sarah, additional, Parker, Adrian, additional, Stevens, Claire, additional, Teague, Jon, additional, Wooster, Richard, additional, Futreal, P Andrew, additional, Trembath, Richard C, additional, Stratton, Michael R, additional, Raymond, F Lucy, additional, and Gottlob, Irene, additional

Published
2011
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