Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and… | ScholarDeck

Paper

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

New research · Ophthalmology

NPJ genomic medicine · 1mo

Cohort studyNPJ genomic medicine· May 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

Read paper

Neuro-ophthalmologyCohort studyDiagnosisQ1IF 4.9

Whole-genome sequencing found a genetic diagnosis in nearly half of patients with infantile nystagmus or albinism.

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

Mahmoud R Fassad … Mervyn G Thomas

NPJ genomic medicine · May 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).

“

Conclusion

Integrating comprehensive phenotype data identified distinct genotype-phenotype relationships.

Read paper

1 like

0 comments

No comments yet. Be the first.

ScholarDeck.

Join the discussion on this paper

Create your profile

Related papers

Latest Foundational

AI / Informatics

0·962 for OCT

MerMED-FM was very accurate at diagnosing diseases using eye scans

Case Report

“Idiopathic retinal vasculitis, aneurysms, and neuroretinitis syndrome may be complicated by cilioretinal artery occlusion, resulting in poor final visual acuity despite reperfusion of the occluded artery.”

Review

20/20

normal vision achieved in one eye

Study

20/40

visual acuity was half of normal in both eyes

Cohort Study

7-year

adalimumab showed no new safety signals in this long-term extension

Cohort Study

25%

One-quarter of patients with head and neck sebaceous gland carcinoma had confirmed nodal metastasis.

Cohort Study

410°

wider field of binocular single vision after combined surgery

Guideline

“The increased incidence of postoperative complications should be taken into account when considering a surgical management.”