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Article

Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism.

Ophthalmic genetics - 1 Oct 2021

Dumitrescu Alina V, Tran Johnny, Pfeifer Wanda, Bhattarai Sajag V, Kemerley Andrew, Dunn Taylor V, Wang Kai, Scheetz Tod E, Drack Arlene

Abstract excerpt

Purpose: To correlate clinical features, molecular genetic findings, and visual acuity in a cohort of patients clinically diagnosed with oculocutaneous albinism.Design: Retrospective chart reviewMethods: 58 charts met the inclusion criteria. Clinical examination, ancillary testing, and molecular genetic diagnoses were extracted. A novel clinical albinism score (CAS) was developed.Results: A least one likely...

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Share to Albinism, Oculocutaneous
Share to Antigens, Neoplasm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Nystagmus, Pathologic

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Share to Tomography, Optical Coherence

Share to Tyrosine

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Identifiers

PMID: 34251969
DOI: 10.1080/13816810.2021.1933544

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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