Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2026
The role of enucleation in the development of nystagmus in children with retinoblastoma.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Olechowski Andrzej, Reed Emma, Naeem Zishan, Sagoo Mandeep S, Reddy M Ashwin
Аннотация
BACKGROUND: Early enucleation has been linked to infantile nystagmus, or a pattern resembling fusion maldevelopment nystagmus syndrome (FMNS). We evaluated nystagmus characteristics and risk factors in a large cohort of children treated for retinoblastoma (RB).
METHODS: The medical records of children who underwent unilateral enucleation for RB between 2009 and 2021 were retrospectively reviewed. Nystagmus type-FMNS or infantile nystagmus syndrome (INS)-was determined clinically. Potential risk factors included age at presentation, age at enucleation, visual acuity, laterality, and genetic status.
RESULTS: Of 149 children who underwent enucleation of one eye (114 with unilateral, 35 with bilateral RB), 13 (9%) developed nystagmus over a mean follow-up of 67 months. Twelve showed INS and 1 had probable FMNS. All affected children carried a pathogenic RB1 variant, compared with 25% of those without nystagmus (P < 0.0001). Nystagmus onset occurred at a mean age of 3.75 months and was linked to earlier RB diagnosis (mean, 4.7 vs 29 months [P < 0.0001]), earlier enucleation (P < 0.0001), and poorer visual acuity (P < 0.0001). Of 11 infants enucleated before 6 months (median, 3 months), only 2 (18%) developed nystagmus despite healthy fellow foveas, with one showing FMNS features.
CONCLUSIONS: In our study cohort, nystagmus occurred in a minority of children, predominantly at presentation rather than as a consequence of enucleation, and was strongly associated with RB1 mutation and early disease onset. These findings provide reassurance for families that unilateral enucleation in infancy rarely induces nystagmus when the fellow eye is healthy.
METHODS: The medical records of children who underwent unilateral enucleation for RB between 2009 and 2021 were retrospectively reviewed. Nystagmus type-FMNS or infantile nystagmus syndrome (INS)-was determined clinically. Potential risk factors included age at presentation, age at enucleation, visual acuity, laterality, and genetic status.
RESULTS: Of 149 children who underwent enucleation of one eye (114 with unilateral, 35 with bilateral RB), 13 (9%) developed nystagmus over a mean follow-up of 67 months. Twelve showed INS and 1 had probable FMNS. All affected children carried a pathogenic RB1 variant, compared with 25% of those without nystagmus (P < 0.0001). Nystagmus onset occurred at a mean age of 3.75 months and was linked to earlier RB diagnosis (mean, 4.7 vs 29 months [P < 0.0001]), earlier enucleation (P < 0.0001), and poorer visual acuity (P < 0.0001). Of 11 infants enucleated before 6 months (median, 3 months), only 2 (18%) developed nystagmus despite healthy fellow foveas, with one showing FMNS features.
CONCLUSIONS: In our study cohort, nystagmus occurred in a minority of children, predominantly at presentation rather than as a consequence of enucleation, and was strongly associated with RB1 mutation and early disease onset. These findings provide reassurance for families that unilateral enucleation in infancy rarely induces nystagmus when the fellow eye is healthy.