Optic Atrophy and Inner Retinal Thinning in CACNA1F -related Congenital Stationary Night Blindness
Hemizygous pathogenic variants in lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incomplete congenital stationary night blindness in humans. Although the primary defect is at the terminal end of first-order neurons (photoreceptors), there is limited know...
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| Veröffentlicht in: | Genes 2021-02, Vol.12 (3), p.330 |
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| container_title | Genes |
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| creator | Leahy, Kate E Wright, Tom Grudzinska Pechhacker, Monika K Audo, Isabelle Tumber, Anupreet Tavares, Erika MacDonald, Heather Locke, Jeff VandenHoven, Cynthia Zeitz, Christina Heon, Elise Buncic, J Raymond Vincent, Ajoy |
| description | Hemizygous pathogenic variants in
lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incomplete congenital stationary night blindness in humans. Although the primary defect is at the terminal end of first-order neurons (photoreceptors), there is limited knowledge of higher-order neuronal changes (inner retinal) in this disorder. This study aimed to investigate inner retinal changes in
-retinopathy by analyzing macular ganglion cell layer-inner plexiform layer (GCL-IPL) thickness and optic disc pallor in 22 subjects with molecularly confirmed
-retinopathy. Detailed ocular phenotypic data including distance and color vision, refraction and electroretinogram (ERG) were collected. Distance vision was universally reduced (mean: 0.42 LogMAR), six had abnormal color vision and myopia was common (
= 15; mean: -6.32 diopters). Mean GCL-IPL thickness was significantly lower in patients (55.00 µm) compared to age-matched controls (
= 87; 84.57 µm; |
| doi_str_mv | 10.3390/genes12030330 |
| format | Article |
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lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incomplete congenital stationary night blindness in humans. Although the primary defect is at the terminal end of first-order neurons (photoreceptors), there is limited knowledge of higher-order neuronal changes (inner retinal) in this disorder. This study aimed to investigate inner retinal changes in
-retinopathy by analyzing macular ganglion cell layer-inner plexiform layer (GCL-IPL) thickness and optic disc pallor in 22 subjects with molecularly confirmed
-retinopathy. Detailed ocular phenotypic data including distance and color vision, refraction and electroretinogram (ERG) were collected. Distance vision was universally reduced (mean: 0.42 LogMAR), six had abnormal color vision and myopia was common (
= 15; mean: -6.32 diopters). Mean GCL-IPL thickness was significantly lower in patients (55.00 µm) compared to age-matched controls (
= 87; 84.57 µm;
<< 0.001). The GCL-IPL thickness correlated with scotopic standard (
= 0.04) and bright-flash (
= 0.014) ERG b/a ratios and photopic b-wave amplitudes (
= 0.05). Twenty-one patients had some degree of disc pallor (bilateral in 19). Fifteen putative disease-causing, including five novel variants were identified. This study establishes macular inner retinal thinning and optic atrophy as characteristic features of
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lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incomplete congenital stationary night blindness in humans. Although the primary defect is at the terminal end of first-order neurons (photoreceptors), there is limited knowledge of higher-order neuronal changes (inner retinal) in this disorder. This study aimed to investigate inner retinal changes in
-retinopathy by analyzing macular ganglion cell layer-inner plexiform layer (GCL-IPL) thickness and optic disc pallor in 22 subjects with molecularly confirmed
-retinopathy. Detailed ocular phenotypic data including distance and color vision, refraction and electroretinogram (ERG) were collected. Distance vision was universally reduced (mean: 0.42 LogMAR), six had abnormal color vision and myopia was common (
= 15; mean: -6.32 diopters). Mean GCL-IPL thickness was significantly lower in patients (55.00 µm) compared to age-matched controls (
= 87; 84.57 µm;
<< 0.001). The GCL-IPL thickness correlated with scotopic standard (
= 0.04) and bright-flash (
= 0.014) ERG b/a ratios and photopic b-wave amplitudes (
= 0.05). Twenty-one patients had some degree of disc pallor (bilateral in 19). Fifteen putative disease-causing, including five novel variants were identified. This study establishes macular inner retinal thinning and optic atrophy as characteristic features of
-retinopathy, which are independent of myopia and could impact potential future treatment strategies.</description><subject>Human health and pathology</subject><subject>Life Sciences</subject><subject>Sensory Organs</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><recordid>eNpdkcFP5CAUxonRqFGPXjcc9VAXCoVyMamNriYTTXb1TCh9nbLp0BEYE__7xYwa3Xfh5fHjex_5EDql5IIxRX4uwUOkJWGEMbKDDksiWcF5We1-6Q_QSYx_SS5OSkKqfXTAmBB1zdkh6h7WyVncpDCvx1dsfI_vvIeAf0Ny3kz4cXTeO7_EzuO2ae8beoOLAJNJ0ON29tmCS5n7k0xyszfhFd-75Zjw1eR8n-3FY7Q3mCnCyft5hJ5urh_b22Lx8OuubRaF5SVNhRKdyP66mglFSiW5KaGqRKWGrudMMMUHY2tTCVCVBGkpSMPrQYmht9J0lh2hy63uetOtoLfgUzCTXge3yq70bJz-fuPdqJfzi5ZKCVqTLHC-FRj_e3bbLPTbjDAqmCDihWb27H1ZmJ83EJNeuWhhmoyHeRN1yVXNayllldFii9owxxhg-NSmRL_FqL_FmPkfX__xSX-Exv4B3TCYbg</recordid><startdate>20210225</startdate><enddate>20210225</enddate><creator>Leahy, Kate E</creator><creator>Wright, Tom</creator><creator>Grudzinska Pechhacker, Monika K</creator><creator>Audo, Isabelle</creator><creator>Tumber, Anupreet</creator><creator>Tavares, Erika</creator><creator>MacDonald, Heather</creator><creator>Locke, Jeff</creator><creator>VandenHoven, Cynthia</creator><creator>Zeitz, Christina</creator><creator>Heon, Elise</creator><creator>Buncic, J Raymond</creator><creator>Vincent, Ajoy</creator><general>MDPI</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>1XC</scope><scope>VOOES</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0003-2287-5513</orcidid><orcidid>https://orcid.org/0000-0001-7007-461X</orcidid><orcidid>https://orcid.org/0000-0002-3510-1712</orcidid><orcidid>https://orcid.org/0000-0001-6446-3846</orcidid><orcidid>https://orcid.org/0000-0003-0698-5309</orcidid><orcidid>https://orcid.org/0000-0001-5071-9978</orcidid></search><sort><creationdate>20210225</creationdate><title>Optic Atrophy and Inner Retinal Thinning in CACNA1F -related Congenital Stationary Night Blindness</title><author>Leahy, Kate E ; Wright, Tom ; Grudzinska Pechhacker, Monika K ; Audo, Isabelle ; Tumber, Anupreet ; Tavares, Erika ; MacDonald, Heather ; Locke, Jeff ; VandenHoven, Cynthia ; Zeitz, Christina ; Heon, Elise ; Buncic, J Raymond ; Vincent, Ajoy</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c421t-96b6020b836902974a2e55659fbd436394fac8a56e957e7c1e7a48f96fdc7abc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Human health and pathology</topic><topic>Life Sciences</topic><topic>Sensory Organs</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Leahy, Kate E</creatorcontrib><creatorcontrib>Wright, Tom</creatorcontrib><creatorcontrib>Grudzinska Pechhacker, Monika K</creatorcontrib><creatorcontrib>Audo, Isabelle</creatorcontrib><creatorcontrib>Tumber, Anupreet</creatorcontrib><creatorcontrib>Tavares, Erika</creatorcontrib><creatorcontrib>MacDonald, Heather</creatorcontrib><creatorcontrib>Locke, Jeff</creatorcontrib><creatorcontrib>VandenHoven, Cynthia</creatorcontrib><creatorcontrib>Zeitz, Christina</creatorcontrib><creatorcontrib>Heon, Elise</creatorcontrib><creatorcontrib>Buncic, J Raymond</creatorcontrib><creatorcontrib>Vincent, Ajoy</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Leahy, Kate E</au><au>Wright, Tom</au><au>Grudzinska Pechhacker, Monika K</au><au>Audo, Isabelle</au><au>Tumber, Anupreet</au><au>Tavares, Erika</au><au>MacDonald, Heather</au><au>Locke, Jeff</au><au>VandenHoven, Cynthia</au><au>Zeitz, Christina</au><au>Heon, Elise</au><au>Buncic, J Raymond</au><au>Vincent, Ajoy</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Optic Atrophy and Inner Retinal Thinning in CACNA1F -related Congenital Stationary Night Blindness</atitle><jtitle>Genes</jtitle><addtitle>Genes (Basel)</addtitle><date>2021-02-25</date><risdate>2021</risdate><volume>12</volume><issue>3</issue><spage>330</spage><pages>330-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>Hemizygous pathogenic variants in
lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incomplete congenital stationary night blindness in humans. Although the primary defect is at the terminal end of first-order neurons (photoreceptors), there is limited knowledge of higher-order neuronal changes (inner retinal) in this disorder. This study aimed to investigate inner retinal changes in
-retinopathy by analyzing macular ganglion cell layer-inner plexiform layer (GCL-IPL) thickness and optic disc pallor in 22 subjects with molecularly confirmed
-retinopathy. Detailed ocular phenotypic data including distance and color vision, refraction and electroretinogram (ERG) were collected. Distance vision was universally reduced (mean: 0.42 LogMAR), six had abnormal color vision and myopia was common (
= 15; mean: -6.32 diopters). Mean GCL-IPL thickness was significantly lower in patients (55.00 µm) compared to age-matched controls (
= 87; 84.57 µm;
<< 0.001). The GCL-IPL thickness correlated with scotopic standard (
= 0.04) and bright-flash (
= 0.014) ERG b/a ratios and photopic b-wave amplitudes (
= 0.05). Twenty-one patients had some degree of disc pallor (bilateral in 19). Fifteen putative disease-causing, including five novel variants were identified. This study establishes macular inner retinal thinning and optic atrophy as characteristic features of
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| ispartof | Genes, 2021-02, Vol.12 (3), p.330 |
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| language | eng |
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| source | MDPI - Multidisciplinary Digital Publishing Institute; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; PubMed Central Open Access |
| subjects | Human health and pathology Life Sciences Sensory Organs |
| title | Optic Atrophy and Inner Retinal Thinning in CACNA1F -related Congenital Stationary Night Blindness |
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