Visual functioning in adults with Idiopathic Infantile Nystagmus Syndrome (IINS)

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

doi:10.1080/09273972.2018.1526958

Cited by 7 publications

(6 citation statements)

References 31 publications

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“…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

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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.

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Section: Discussionmentioning

confidence: 99%

Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14

et al. 2020

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“…49 Up to now, the psychological and developmental infantile nystagmus syndrome impact has been scarcely investigated, and the available evidence showed some weaknesses such as limited age range, nonhomogeneous sample, and either missing or incomplete socioemotional analysis. [50][51][52][53][54][55][56][57] Decarlo et al showed the effects of pediatric vision impairment on quality of life using parallel focus groups of partially sighted children (76% of them showing nystagmus) and their parents. 56 The focus groups used a semistructured script, which covered topics related to general vision, mobility, school functioning, social relations and activities, self-care, medical treatment, and family impact.…”

Section: Discussionmentioning

confidence: 99%

Infantile nystagmus syndrome: An observational, retrospective, multicenter study

Fossataro,

Pafundi,

Mattei

et al. 2024

Optom Vis Sci

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SIGNIFICANCE This multicenter study assessed clinical and psychological aspects of infantile nystagmus syndrome (INS) focusing on its management and nonsurgical treatment. PURPOSE This study aimed to assess clinical features, management, relationship life, and psychological impact in a group of patients with nystagmus onset in pediatric age. METHODS This observational study included patients diagnosed with INS referred to two Italian centers from January 1, 2017, to December 31, 2020. Ophthalmologic and orthoptic features and impact of visual function on quality of life, according to nystagmus-specific nystagmus quality of life questionnaire, were analyzed within the overall sample and in any of INS subgroups. RESULTS Forty-three patients were included; 65.1% of them had idiopathic INS (IINS), and 34.9% had INS associated with ocular diseases (INSOD). The median age was 15.4 years (interquartile range [IQR], 10.4 to 17.3 years), significantly different between groups (median, 15.8 years among those with IINS vs. 12.3 years among those with INSOD; p<0.001). In the INSOD subgroup, strabismus was significantly more prevalent (93.3 vs. 57.1%; p=0.017). Binocular distance best-corrected visual acuity in primary position was significantly higher in the IINS subsample (p<0.001). Such behavior was further confirmed at anomalous head position evaluation (p<0.001). At near best-corrected visual acuity assessment, differences between groups were more remarkable in primary position (p<0.001) than in anomalous head position. Contrast sensitivity showed significantly higher values in the IINS subgroup (p<0.001). The nystagmus quality of life questionnaire disclosed a significantly lower score in IINS as compared with INSOD (median total score, 90.5 [IQR, 84 to 97] vs. 94 [IQR, 83.0 to 96.5]; p<0.001). CONCLUSIONS The IINS group showed significantly better ophthalmologic and orthoptic outcomes than the INSOD group. The psychological and quality-of-life impact was instead significantly greater in the IINS group. To the best of our knowledge, this is the first multicenter study investigating the clinical features of IIN and comparing the two main subgroups, IINS and INSOD.

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“…Compared to static visual acuity, motion perception can be examined to assess the real-life visual function of INS more thoroughly. Questions related to visual motion perception can also be added to the current quality of life surveys 49 – 52 to better assess real-life related visual function in INS.…”

Section: Discussionmentioning

confidence: 99%

Perception of Coherent Motion in Infantile Nystagmus Syndrome

Dai

Cham

Abel

2022

Invest. Ophthalmol. Vis. Sci.

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Purpose Research on infantile nystagmus syndrome (INS) and motion perception is limited. We investigated how individuals with INS perform coherent motion tasks. Particularly, we assessed how the null position affects their performance. Methods Subjects with INS and controls identified the direction of coherent motion stimuli (22 subjects with INS and 13 controls) in a two-alternative forced-choice design. For subjects with INS, testing was done at the null position and 15 degrees away from it. If there was no null, testing was done at primary gaze position and 15 degrees away from primary. For controls, testing was done at primary gaze position and 20 degrees away from primary. Horizontal and vertical motion coherence thresholds were determined. Results Subjects with INS showed significantly higher horizontal and vertical motion coherence thresholds compared with controls at both gaze positions ( P < 0.001). Within the INS group, for 12 subjects with INS who had an identified null position, no differences in coherence thresholds were found between their null and 15 degrees away from it ( P > 0.05). Conclusions Coherent motion perception was impaired in subjects with INS. The null position did not significantly influence motion coherence thresholds for either horizontal or vertical motion.

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Visual functioning in adults with Idiopathic Infantile Nystagmus Syndrome (IINS)

Cited by 7 publications

References 31 publications

Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14

Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14

Infantile nystagmus syndrome: An observational, retrospective, multicenter study

Perception of Coherent Motion in Infantile Nystagmus Syndrome

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