Visual functioning in adults with idiopathic infantile nystagmus syndrome (IINS)

Das, Aditi; Quartilho, Ana; MacKenzie, Kent S.; Bunce, Catey; Rubin, Gary S.; Adams, Gillian; Dahlmann‐Noor, Annegret; Theodorou, Maria

doi:10.1016/j.jaapos.2018.07.091

Cited by 3 publications

(3 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Regarding the vision-related quality of life, we also have to take into account that this is a subjective measure which does not necessarily reflect standard visual function tests. This was seen in patients with idiopathic infantile nystagmus syndrome-as an example of an isolated oculomotor deficit syndrome-who showed reduced vision-related quality of life without concordant changes in visual acuity measurements [68]. Again, mood disorders may result in an overestimation of the visual impairment.…”

Section: Discussionmentioning

confidence: 99%

Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14

et al. 2020

View full text Add to dashboard Cite

Spinocerebellar ataxia type 14 (SCA-PRKCG, formerly SCA14) is a rare, slowly progressive disorder caused by conventional mutations in protein kinase Cγ (PKCγ). The disease usually manifests with ataxia, but previous reports suggested PRKCG variants in retinal pathology. To systematically investigate for the first time visual function and retinal morphology in patients with SCA-PRKCG. Seventeen patients with PRKCG variants and 17 healthy controls were prospectively recruited, of which 12 genetically confirmed SCA-PRKCG patients and 14 matched controls were analyzed. We enquired a structured history for visual symptoms. Vision-related quality of life was obtained with the National Eye Institute Visual Function Questionnaire (NEI-VFQ) including the Neuro-Ophthalmic Supplement (NOS). Participants underwent testing of visual acuity, contrast sensitivity, visual fields, and retinal morphology with optical coherence tomography (OCT). Measurements of the SCA-PRKCG group were analyzed for their association with clinical parameters (ataxia rating and disease duration). SCA-PRKCG patients rate their vision-related quality of life in NEI-VFQ significantly worse than controls. Furthermore, binocular visual acuity and contrast sensitivity were worse in SCA-PRKCG patients compared with controls. Despite this, none of the OCT measurements differed between groups. NEI-VFQ and NOS composite scores were related to ataxia severity. Additionally, we describe one patient with a genetic variant of uncertain significance in the catalytic domain of PKCγ who, unlike all confirmed SCA-PRKCG, presented with a clinically silent epitheliopathy. SCA-PRKCG patients had reduced binocular vision and vision-related quality of life. Since no structural retinal damage was found, the pathomechanism of these findings remains unclear.

show abstract

Section: Discussionmentioning

confidence: 99%

Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14

et al. 2020

View full text Add to dashboard Cite

show abstract

“…1,2 Idiopathic nystagmus is almost always bilateral, conjugate, and occurs in the horizontal plane, in upgaze and downgaze, with little variability. 3 As a general rule, although the visual acuity is not profoundly decreased, contrast sensitivity, stereopsis and other visual functions may be affected. Consequently, this can negatively impact quality of life (QoL).…”

Section: Introductionmentioning

confidence: 99%

Microperimetric Biofeedback Training for Children with Idiopathic Infantile Nystagmus Syndrome: a Short-and-Long Term Analysis

Misawa,

Eldeeb,

Pyatova

et al. 2024

Preprint

View full text Add to dashboard Cite

Microperimetric Biofeedback training (BT), a new vision rehabilitation therapy, was used to improve fixation stability, visual functions, and parental quality of life questionnaire (QoL) in children with idiopathic infantile nystagmus. The patients were followed for short and long term. 25 cases (9.3 ± 2.3 years old) trained on the MAIA microperimeter for 80 minutes delivered within 4 weekly sessions. They were followed for the short (1 week to 1 month) and long term (22 patients, from 8 months, up to 5 years). Binocular distance and near vision, fixation stability (FS), reading speed, contrast sensitivity, and QoL showed a significant improvement post-BT on short and long term. Stereopsis did not improve. Distance and near vision improved 1 ETDRS line, contrast improved 2 lines on 10% contrast Colenbrander Test, reading speed improved 22 words/minute, and QoL 1.3 points. FS could be measured in 48% of the cases, and improved 38%. BT had a significant long lasting positive effect on visual functions and QoL in children with idiopathic nystagmus. This research suggests that, as a low cost-benefit therapy, BT may become a new therapeutic option for these cases.

show abstract

“…The condition is relatively common with a prevalence of 14 per 10,000 of the population 2 and significantly impacts on the quality of life of those affected. 3,4 Indeed, nystagmus and other irregular eye movements represent the second most common cause (11%) for children to be registered as sight impaired in England and Wales. 5 Infantile nystagmus is associated with many conditions (e.g., albinism), 6 but the etiology of the eye oscillation is still unknown.…”

mentioning

confidence: 99%

Two-Dimensional Analysis of Horizontal and Vertical Pursuit in Infantile Nystagmus Reveals Quantitative Deficits in Accuracy and Precision

McIlreavy

Freeman

Erichsen

2020

Invest. Ophthalmol. Vis. Sci.

View full text Add to dashboard Cite

Infantile nystagmus (IN) presents with continuous, predominantly horizontal eye oscillations. It remains controversial whether those with IN have normal horizontal pursuit, while vertical pursuit has rarely been studied. We examined whether there are pursuit deficits associated with IN by investigating the effect of target direction, velocity, and amplitude. METHODS. Twelve adults with idiopathic IN performed a pursuit task, a 0.4°dot moved either horizontally or vertically at 8 or 16°/s, through amplitudes of 8°, 16°, or 32°. Accuracy and precision errors were computed as bivariate probability density functions of target-relative eye velocities. RESULTS. Eye velocity was less precise along the horizontal axis during both horizontal and vertical pursuit, reflecting the primary axis of the eye oscillation. Mean accuracy error along the target trajectory during vertical pursuit was just as impaired as during horizontal pursuit. There was a greater error in accuracy along the target trajectory for 16°/s targets than 8°/s. Finally, targets that oscillated at 2.0 Hz had a greater error in accuracy along the target trajectory than frequencies of 1.0 Hz or 0.5 Hz. When studied using the same experimental protocol, pursuit performance for typical observers was always better. CONCLUSIONS. These findings strongly support our hypothesis of severe deficits in pursuit accuracy in observers with IN for horizontally and vertically moving targets, as well as for targets that move at higher speeds or oscillate more quickly. Overall, IN pursuit impairment appears to have previously been underestimated, highlighting a need for further quantitative studies of dynamic visual function in those with IN.

show abstract

Visual functioning in adults with idiopathic infantile nystagmus syndrome (IINS)

Cited by 3 publications

References 0 publications

Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14

Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14

Microperimetric Biofeedback Training for Children with Idiopathic Infantile Nystagmus Syndrome: a Short-and-Long Term Analysis

Two-Dimensional Analysis of Horizontal and Vertical Pursuit in Infantile Nystagmus Reveals Quantitative Deficits in Accuracy and Precision

Contact Info

Product

Resources

About