Abstract
Purpose :
To report the demographic and clinical characteristics of a large, international cohort of childhood patients with nystagmus.
Methods :
This is a prospective, cohort analysis of demographic and clinical characteristics in 600 patients with nystagmus in infancy and childhood. Data collected included: 1) demography, 2) nystagmus type, 3) clinical characteristics, 4) associated ophthalmic conditions, 5) associated non-ophthalmic conditions, 6) special testing findings and 7) treatments.
Results :
Between 2010-20 1,774 patients from 35 states and 26 countries with nystagmus were evaluated at Akron Children’s Hospital. We are reporting on 600 infants and children (<18 years of age) whose data were collected prospectively as part of an IRB approved registry. Age ranged from birth to 18 yrs (mean 15.2 yrs), 58% were female, 35% were other than Caucasian, 75% had infantile nystagmus syndrome, 18% had acquired nystagmus, 6% had fusion maldevelopment nystagmus syndrome, 81% had strabismus, 52% had an anomalous head posture, 92% had a significant refractive error, 74% of patients had an associated ophthalmic abnormality (excluding ammetropia), 63% had an associated systemic condition (most commonly albinism 35%). Targeted, genetic testing for inherited eye disease was postive in 76 of 156 (49%) tested patients. Special testing showed abnormalities of electrophysiological testing and/or imaging (other than eye movement recordings (EMR), in 67%. EMR’s were an essential part of classifying nystagmus types and clearly differentiated infantile from acquired forms of nystagmus as well as characterizing (a)periodicity and gaze, monocular and vergence changes. Optical, medical or surgical treatments were performed together or in part in 95% of patients.
Conclusions :
The prevalence of nystagmus in the general population is estimated to be 24/10,000 and in infancy 14/10,000. Although nystagmus can result from a variety of conditions, eye movement recordings provide a path towards accurate diagnosis and classification. There is a high prevalence of underlying genetic, ocular and/or systemic conditions requiring special testing as part of a diagnostic routine. Clinical treatments are available and of benefit to the vast majority of patients.
This is a 2021 ARVO Annual Meeting abstract.