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5. Demographic and Clinical Characteristics of 600 Children With Nystagmus.

Author

Hertle, Richard W., Evliyaoglu, Ferhat, and McRitchie, Bayley

Subjects
STRABISMUS, DEMOGRAPHIC characteristics, NYSTAGMUS, ROUTINE diagnostic tests, REFRACTIVE errors, RACE
Abstract

Purpose: To characterize a large, international cohort of children with nystagmus. Methods: Data were collected from a single-center, prospectively developed database on patients with nystagmus. Outcome variables for this study included: (1) demographic characteristics, (2) nystagmus type, (3) clinical characteristics, (4) associated ophthalmic conditions, (5) associated non-ophthalmic conditions, (6) special testing findings, and (7) treatments. Results: Six hundred patients from 38 states and 30 countries were included. Age ranged from birth to younger than 18 years (mean: 15.2 years), 58% were female, 55% were race other than White, 75% had infantile nystagmus syndrome, 17% had neurologically significant nystagmus, 7% had fusion maldevelopment nystagmus syndrome, 64% had strabismus, 56% had an anomalous head posture, 94% had a significant refractive error, 64% had an associated ophthalmic abnormality (excluding ametropia), and 45% had an associated systemic condition. Special testing showed abnormalities in 67% and 95% had treatment directed at their nystagmus. Conclusions: The most common diagnosis in this cohort is neurologically non-significant infantile nystagmus syndrome. Eye movement recordings provide a path toward accurate diagnosis and classification. There was a high prevalence of underlying ocular and/or systemic conditions requiring ophthalmic special testing as part of a diagnostic routine. Clinical treatments are available to most patients. [J Pediatr Ophthalmol Strabismus. 2023;60(6):406–410.] [ABSTRACT FROM AUTHOR]

Published
2023
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6. Prescribing patterns for paediatric hyperopia among paediatric eye care providers.

Author

Morrison, Ann M., Kulp, Marjean T., Ciner, Elise B., Mitchell, G. Lynn, McDaniel, Catherine E., Hertle, Richard W., Candy, T. Rowan, Roberts, Tawna L., Peterseim, M. Millicent, Granet, David B., Robbins, Shira L., Srinivasan, Gayathri, Allison, Christine L., Ying, Gui‐Shuang, Orel‐Bixler, Deborah, Block, Sandra S., and Moore, Bruce R.

Subjects
EYE care, VISION testing, HYPEROPIA, CUMULATIVE distribution function, VISION, REFRACTIVE errors
Abstract

Purpose: To survey paediatric eye care providers to identify current patterns of prescribing for hyperopia. Methods: Paediatric eye care providers were invited, via email, to participate in a survey to evaluate current age‐based refractive error prescribing practices. Questions were designed to determine which factors may influence the survey participant's prescribing pattern (e.g., patient's age, magnitude of hyperopia, patient's symptoms, heterophoria and stereopsis) and if the providers were to prescribe, how much hyperopic correction would they prescribe (e.g., full or partial prescription). The response distributions by profession (optometry and ophthalmology) were compared using the Kolmogorov–Smirnov cumulative distribution function test. Results: Responses were submitted by 738 participants regarding how they prescribe for their hyperopic patients. Most providers within each profession considered similar clinical factors when prescribing. The percentages of optometrists and ophthalmologists who reported considering the factor often differed significantly. Factors considered similarly by both optometrists and ophthalmologists were the presence of symptoms (98.0%, p = 0.14), presence of astigmatism and/or anisometropia (97.5%, p = 0.06) and the possibility of teasing (8.3%, p = 0.49). A wide range of prescribing was observed within each profession, with some providers reporting that they would prescribe for low levels of hyperopia while others reported that they would never prescribe. When prescribing for bilateral hyperopia in children with age‐normal visual acuity and no manifest deviation or symptoms, the threshold for prescribing decreased with age for both professions, with ophthalmologists typically prescribing 1.5–2 D less than optometrists. The threshold for prescribing also decreased for both optometrists and ophthalmologists when children had associated clinical factors (e.g., esophoria or reduced near visual function). Optometrists and ophthalmologists most commonly prescribed based on cycloplegic refraction, although optometrists most commonly prescribed based on both the manifest and cycloplegic refraction for children ≥7 years. Conclusion: Prescribing patterns for paediatric hyperopia vary significantly among eye care providers. [ABSTRACT FROM AUTHOR]

Published
2023
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12. List of Contributors

Author

Amaya, Luis, primary, Ashworth, Jane L, additional, Avery, Robert A, additional, Bartram, Jack, additional, Beres, Shannon J, additional, Binenbaum, Gil, additional, Biousse, Valérie, additional, Birch, Eileen E, additional, Biswas, Susmito, additional, Black, Graeme C M, additional, Black, Joanna, additional, Bowman, Richard J C, additional, Bradbury, John A, additional, Brodsky, Michael C, additional, Brosnahan, Donal, additional, de Alba, Alejandra, additional, Camuglia, Jayne E, additional, Carden, Susan M, additional, Castano, Giovanni, additional, Casteels, Ingele, additional, Chung, Yvonne, additional, Clarke, Michael P, additional, Coats, David K, additional, Collin, Richard, additional, Crompton, John, additional, Cunningham, Emmett T, additional, Demer, Joseph L, additional, Dollfus, Hélène, additional, Dolman, Peter J, additional, Donahue, Sean P, additional, Edelsten, Clive, additional, Fielder, Alistair R, additional, FitzPatrick, David R., additional, Fulton, Anne B, additional, Gallie, Brenda L, additional, Geloneck, Megan, additional, Gilbert, Clare E, additional, Giligson, Christy, additional, Gole, Glen A, additional, Good, William V, additional, Grigg, John R B, additional, Grossniklaus, Hans, additional, Hamel, Patrick, additional, Handler, Sheryl M, additional, Hansen, Ronald M, additional, Heidary, Gena, additional, Hertle, Richard W, additional, Hildebrand, Göran Darius, additional, Holder, Graham E, additional, Hoyt, Creig S, additional, Hubbard, G Baker, additional, Hutchinson, Amy K, additional, Jain, Saurabh, additional, Jamieson, Robyn V, additional, Jensen, Hanne, additional, Kadom, Nadja, additional, Kekunnaya, Ramesh, additional, Kersten, Robert C, additional, Kestelyn, Philippe, additional, Keunen, Jan E E, additional, Khaw, Peng Tee, additional, Kim, Chong Ae, additional, Koopman, Jan, additional, Kraft, Stephen P, additional, Kushner, Burton J, additional, Lambert, Scott R, additional, LaRoche, G Robert, additional, Larsen, Dorte Ancher, additional, Lee, Andrew G, additional, Lee, Barry, additional, Lenhart, Phoebe, additional, Liasis, Alki, additional, Liu, Grant T, additional, Lloyd, Christopher, additional, Lyons, Christopher J, additional, Matsuba, Carey A, additional, MacEwen, Caroline J, additional, McNab, Alan A, additional, Mehta, Vaishali, additional, Michaelides, Michel, additional, Mojon, Daniel, additional, Ulrik, Hans, additional, Moore, Anthony T, additional, Morris, Andrew A M, additional, Newman, Nancy J, additional, Nischal, Ken K, additional, O'Colmain, Una, additional, O'Connor, Anna R, additional, O'Keefe, Michael, additional, Olitsky, Scott E, additional, Ospina, Luis H, additional, Oystreck, Darren T, additional, Papadopoulos, Maria, additional, Park, Sunju, additional, Paysse, Evelyn A, additional, Peragallo, Jason H, additional, Pereira, Erika Mota, additional, Pilling, Rachel F, additional, Pineles, Stacy, additional, Prajna, Venkatesh, additional, Proudlock, Frank Antony, additional, Puvanachandra, Narman, additional, Quinn, Anthony G, additional, Quinn, Graham E, additional, Rahi, Jugnoo S, additional, Repka, Michael X, additional, Robinson, Joshua, additional, Russell, Buddy, additional, de Sá, Luis Carlos Ferreira, additional, Sachdeva, Virender, additional, Salchow, Daniel J, additional, Scawn, Richard L, additional, Schalij-Delfos, Nicoline, additional, van Schooneveld, Mary J, additional, Self, Jay, additional, Sergouniotis, Panagiotis I, additional, Shields, Carol L, additional, Shields, Jerry A, additional, Sloper, John J, additional, Snead, Martin P, additional, Soliman, Sameh E, additional, Sullivan, Timothy John, additional, Summers, C Gail, additional, Tan, Kimberley, additional, Taylor, David S, additional, Thompson, Dorothy A, additional, Traboulsi, Elias I, additional, Tuft, Stephen J, additional, Uddin, Jimmy M, additional, Vijayalakshmi, Perumalsamy, additional, Watts, Patrick, additional, Weakley, David R, additional, and Wells, Jill Razor, additional

Published
2017
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14. Ocular Motility Disorders

Author

Maybodi, Mitra, Hertle, Richard W., Bachynski, Brian N., Wright, Kenneth W., editor, Spiegel, Peter H., editor, and Thompson, Lisa S., editor

Published
2006
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16. 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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22. 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

23. 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

35. List of Contributors

Author

Acharya, Nisha R, primary, Acheson, James F, additional, Adams, Gillian G W, additional, Ainsworth, John R, additional, de Alba Campomanes, Alejandra, additional, Allen, Louise E, additional, Ashworth, Jane Louise, additional, Aydin, Pinar, additional, Biousse, Valérie, additional, Biswas, Susmito, additional, Black, Graeme C M, additional, Black, Joanna, additional, Bosley, Thomas M, additional, Bowman, Richard J C, additional, Bradbury, John A, additional, Brodsky, Michael C, additional, Brookes, John L, additional, Brosnahan, Donal, additional, Buncic, J Raymond, additional, Camuglia, Jayne E, additional, Carden, Susan M, additional, Casteels, Ingele, additional, Cavuoto, Kara, additional, Chang, Wilma Y, additional, Clarke, Michael P, additional, Collin, J Richard O, additional, Crompton, John, additional, Cunningham, Emmett T, additional, Dahn, Kenneth K, additional, Day, Susan H, additional, Dollfus, Hélène, additional, Dutton, Gordon N, additional, Edelsten, Clive, additional, Elder, James, additional, Elston, John S, additional, Fielder, Alistair R, additional, Fitzpatrick, David R, additional, Fulton, Anne B, additional, Francis, Peter J, additional, Frederick, Douglas, additional, Funnell, Charlotte L, additional, Gallie, Brenda L, additional, Geloneck, Megan M, additional, Gilbert, Clare E, additional, Gole, Glen A, additional, Good, William V, additional, Gottlob, Irene, additional, Griffiths, Philip G, additional, Grigg, John R B, additional, Hammond, Christopher J, additional, Hanna, Nancy N, additional, Hall, Georgina, additional, Hansen, Ronald M, additional, Hatsukawa, Yoshikazu, additional, Henderson, Hugo W A, additional, Hertle, Richard W, additional, Hildebrand, Göran D, additional, Hingorani, Melanie, additional, Hodgkins, Peter, additional, Hollander, David A, additional, Holmström, Gerd S, additional, Holder, Graham E, additional, Hoyt, Creig, additional, Hunter, David G, additional, Jamieson, Robyn V, additional, Jan, James E, additional, Jain, Saurabh, additional, Jensen, Hanne, additional, Jolly, Rohit, additional, Kersten, Robert C, additional, Kestelyn, Phillippe, additional, Khaw, Peng T, additional, Kraft, Stephen P, additional, Kushner, Burton J, additional, Kyle, Robert A, additional, Lambert, Scott R, additional, LaRoche, G Robert, additional, Laws, David, additional, Lee, Andrew G, additional, Liasis, Alki, additional, Lloyd, Christopher, additional, Lyons, Christopher J, additional, MacEwen, Caroline J, additional, Mayer, D Luisa, additional, McKeown, Craig A, additional, McLeod, Stephen D, additional, Michaelides, Michel, additional, Miller, Joel M, additional, Miller, Neil R, additional, Mohamad, Nor Fadhilah, additional, Møller, Hans Ulrik, additional, Moore, Anthony T, additional, Morris, Andrew Alan Myles, additional, Morris, Robert, additional, Moskowitz, Anne, additional, Newman, Nancy J, additional, Nischal, Ken K, additional, Nishikawa, Hiroshi, additional, O’Keefe, Michael, additional, Papadopoulos, Maria, additional, Parulekar, Manoj V, additional, Parsa, Cameron F, additional, Pavesio, Carlos E, additional, Pau, Derrick C, additional, Paysse, Evelyn A, additional, Pereira, Erika Mota, additional, Pilling, Rachel Fiona, additional, Prajna, Venkatesh, additional, Proudlock, Frank A, additional, Quinn, Anthony, additional, Quinn, Graham E, additional, Rahi, Jugnoo S, additional, Rajamani, Muralidhar, additional, Reddy, M Ashwin, additional, Repka, Michael X, additional, Richard, Bruce, additional, Rootman, Jack, additional, Russell-Eggitt, Isabelle M, additional, Rutar, Tina, additional, de Sá, Luis Carlos Ferreira, additional, Sachdeva, Reecha, additional, Sagoo, Mandeep, additional, Salt, Alison, additional, Santiago, Alvina Pauline D, additional, Scawn, Richard L, additional, Scott, Alan B, additional, Self, Jay, additional, Sergouniotis, Panagiotis, additional, Shah, Ankoor S, additional, Shakoor, Akbar, additional, Shields, Carol L, additional, Shields, Jerry A, additional, Simmons, Ian, additional, Sloper, John J, additional, Snead, Martin P, additional, Souza-Dias, Carlos R, additional, Sowden, Jane C, additional, Speedwell, Lynne, additional, Stewart, Jay M, additional, Sugiyama, Yoshiko, additional, Sy, Aileen, additional, Tan, Naomi, additional, Taylor, David, additional, Taylor, Robert H, additional, Thompson, Dorothy A, additional, Timms, Chris, additional, Traboulsi, Elias I, additional, Tuft, Stephen John, additional, Tychsen, Lawrence, additional, Uddin, Jimmy M, additional, Verloes, Alain, additional, Vivian, Anthony J, additional, Watts, Patrick, additional, Weakley, David R, additional, Webb, David, additional, Wraith, James Edmond, additional, and Yu-Wai-Man, Patrick, additional

Published
2013
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