Broad and Long-Lasting Vision Improvements in Youth With Infantile Nystagmus After Home Training With a Perceptual Learning App

Current treatments for infantile nystagmus (IN), focused on dampening the oscillating eye movements, yield little to no improvement in visual functioning. It makes sense, however, to treat the visual impairments associated with IN with tailored sensory training. Recently, we developed such a training, targeting visual crowding as an important bottleneck in visual functioning with an eye-movement engaging letter discrimination task. This training improved visual performance of children with IN, but most children had not reached plateau performance after 10 supervised training sessions (3,500 trials). Here, we evaluate the effects of prolonged perceptual learning (14,000 trials) in 7-18-year-old children with IN and test the feasibility of tablet-based, at-home intervention. Results demonstrate that prolonged home-based perceptual training results in stable, long lasting visual acuity improvements at distance and near, with remarkably good transfer to reading and even stereopsis. Improvements on self-reported functional vision scores underline the clinical relevance of perceptual learning with e-health apps for individuals with IN.

Ocular Albinism

Ocular albinism is an X-linked melanosome biogenesis disorder, leading to mild cutaneous symptoms and persistent visual impairment in affected males. As a result of mutations in the GPR143 gene, a defect occurs in the transformation of melanosomes into macromelanosomes with loss of function at the GPBR143 receptor. Clinically, manifests with nystagmus, which typically occurs in infants until the sixth month from birth. Optic nerve misdirection which can be detected by VEP is important in the differential diagnosis of another infantile nystagmus. Foveal hypoplasia is the most responsible finding for poor vision. Today, functional losses are tried to be minimized by differential diagnosis and early treatment. It is predicted that more effective treatment can be provided with gene therapy in the future.

TUBB3 M323V Syndrome Presents with Infantile Nystagmus

Variants in the TUBB3 gene, one of the tubulin-encoding genes, are known to cause congenital fibrosis of the extraocular muscles type 3 and/or malformations of cortical development. Herein, we report a case of a 6-month-old infant with c.967A>G:p.(M323V) variant in the TUBB3 gene, who had only infantile nystagmus without other ophthalmological abnormalities. Subsequent brain magnetic resonance imaging (MRI) revealed cortical dysplasia. Neurological examinations did not reveal gross or fine motor functions, which are inconsistent with the clinical characteristics of patients with the M323V syndrome reported so far. A protein modeling showed that the M323V mutation in the TUBB3 gene interferes with αβ heterodimer formation with the TUBA1A gene. This report emphasizes the importance of considering TUBB3 and TUBA1A tubulinopathy in infantile nystagmus. A brain MRI should also be considered for these patients, although in the absence of other neurologic signs or symptoms.