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Cohort studyNPJ genomic medicine · 2026

Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.

Mahmoud R Fassad, Pradeep C Vasudevan, Julian Barwell … Mervyn G Thomas

OphthalmologyCohort study

Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.

Mahmoud R Fassad … Mervyn G Thomas

NPJ genomic medicine · 2026

Methods

Were enrolled in the study based on the clinical codes for albinism or infantile nystagmus.

n = 388 families

46%

Results

46%

genetic testing found a likely cause in nearly half of patients

n = 388 families

More results

We ascertained 473 affected individuals (388 families).

Pathogenic variants were found in 16 of 38 panel genes, most commonly in TYR (56 families) and OCA2 (21 families).

Recurrent variants (24% of 103 different variants) were identified in six genes.

More results

Phenotypically, refractive errors and foveal hypoplasia-related diagnoses were significantly enriched (odds ratio ~2.8 for refractive disorders).

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Conclusion

Integrating comprehensive phenotype data identified distinct genotype-phenotype relationships.