PURPOSE: Previous studies have found no difference between nystagmus characteristics associated with idiopathic infantile nystagmus (IIN) and that associated with albinism. The present aim is to compare the oculomotor characteristics and other associated clinical features of albinism and a genetically homogenous group of IIN volunteers where the nystagmus is associated with FRMD7 mutations. METHODS: Oculomotor characteristics and related clinical features between albinism (n = 52) and idiopathic nystagmus associated with FRMD7 mutations (FRMD7-IIN, n = 83) were compared. The nystagmus characteristics compared included amplitude, frequency, intensity of nystagmus, foveation characteristics, and waveform type. Other clinical features compared were strabismus, stereopsis and anomalous head posture. RESULTS: The FRMD7-IIN group contained a higher proportion of pendular waveform types compared with the albinism group (P < 0.0001). Nystagmus frequency was significantly lower in albinos (mean = 3.3 Hz, SD = 0.13 Hz) compared with the FRMD7-IIN group (mean = 4.3 Hz, SD = 0.18 Hz) (F = 14.5, P < 0.0001). Strabismus and anomalous head posture was seen in higher proportions in the albinism group, and stereopsis was worse compared with the FRMD7-IIN group (P ≪ 0.0001). CONCLUSIONS: Differences in nystagmus characteristics associated with albinism and those associated with FRMD7 mutations leading to IIN are described for the first-time. These findings may provide useful information in the future elucidation of mechanisms underlying the nystagmus associated with albinism and idiopathic infantile nystagmus.
PURPOSE: Previous studies have found no difference between nystagmus characteristics associated with idiopathic infantile nystagmus (IIN) and that associated with albinism. The present aim is to compare the oculomotor characteristics and other associated clinical features of albinism and a genetically homogenous group of IIN volunteers where the nystagmus is associated with FRMD7 mutations. METHODS: Oculomotor characteristics and related clinical features between albinism (n = 52) and idiopathic nystagmus associated with FRMD7 mutations (FRMD7-IIN, n = 83) were compared. The nystagmus characteristics compared included amplitude, frequency, intensity of nystagmus, foveation characteristics, and waveform type. Other clinical features compared were strabismus, stereopsis and anomalous head posture. RESULTS: The FRMD7-IIN group contained a higher proportion of pendular waveform types compared with the albinism group (P < 0.0001). Nystagmus frequency was significantly lower in albinos (mean = 3.3 Hz, SD = 0.13 Hz) compared with the FRMD7-IIN group (mean = 4.3 Hz, SD = 0.18 Hz) (F = 14.5, P < 0.0001). Strabismus and anomalous head posture was seen in higher proportions in the albinism group, and stereopsis was worse compared with the FRMD7-IIN group (P ≪ 0.0001). CONCLUSIONS: Differences in nystagmus characteristics associated with albinism and those associated with FRMD7 mutations leading to IIN are described for the first-time. These findings may provide useful information in the future elucidation of mechanisms underlying the nystagmus associated with albinism and idiopathic infantile nystagmus.
Authors: Alexander E Volk; Andrea Hedergott; Meliha Karsak; Christian Kubisch; Markus Preising; Sebastian Rading; Julia Fricke; Peter Herkenrath; Peter Nürnberg; Janine Altmüller; Simon von Ameln; Birgit Lorenz; Antje Neugebauer Journal: Hum Genet Date: 2021-05-06 Impact factor: 4.132
Authors: Helen J Kuht; Gail D E Maconachie; Jinu Han; Line Kessel; Maria M van Genderen; Rebecca J McLean; Michael Hisaund; Zhanhan Tu; Richard W Hertle; Karen Gronskov; Dayong Bai; Aihua Wei; Wei Li; Yonghong Jiao; Vasily Smirnov; Jae-Hwan Choi; Martin D Tobin; Viral Sheth; Ravi Purohit; Basu Dawar; Ayesha Girach; Sasha Strul; Laura May; Fred K Chen; Rachael C Heath Jeffery; Abdullah Aamir; Ronaldo Sano; Jing Jin; Brian P Brooks; Susanne Kohl; Benoit Arveiler; Lluis Montoliu; Elizabeth C Engle; Frank A Proudlock; Garima Nishad; Prateek Pani; Girish Varma; Irene Gottlob; Mervyn G Thomas Journal: Ophthalmology Date: 2022-02-11 Impact factor: 14.277
Authors: C Gail Summers; John E Connett; Ann M Holleschau; Jennifer L Anderson; Inge De Becker; Brian S McKay; Murray H Brilliant Journal: Clin Exp Ophthalmol Date: 2014-05-05 Impact factor: 4.207
Authors: Paige A Winkler; Kara R Gornik; David T Ramsey; Richard R Dubielzig; Patrick J Venta; Simon M Petersen-Jones; Joshua T Bartoe Journal: PLoS One Date: 2014-03-19 Impact factor: 3.240