Article

An Unusual Phenotype in Dutch Patients With Oculocutaneous Albinism Type 4: Evident Hypopigmentation Without Other Ocular Deficits.

2021-02-19

Abstract excerpt

<h4>Purpose: </h4> To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4). Patients and Methods: We collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Dutch OCA4 patients from the Bartiméus Diagnostic Center for complex visual disorders. <h4>Results: </h4>: All patients had seve...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1a39766a-b321-5eae-8390-b033409458c6
DOI: 10.21203/rs.3.rs-209795/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

An Unusual Phenotype in Dutch Patients With Oculocutaneous Albinism Type 4: Evident Hypopigmentation Without Other Ocular Deficits.DOI 10.21203/rs.3.rs-209795/v1Read

Oculocutaneous albinism type 7: Overlap and differences with other types of non-syndromic albinismSemantic proximity Read

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.Semantic proximity Read

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.Semantic proximity Read

Clinical Manifestations and Genetic Spectrum of Oculocutaneous Albinism Type 2 in Chinese Patients.Semantic proximity Read

TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.Semantic proximity Read

Oculocutaneous albinism type 1A: a case report.Semantic proximity Read

Chiasmal Decussation in Oculo-Cutaneous Albinism Type 8.Semantic proximity Read

Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature.Semantic proximity Read

A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.Semantic proximity Read

Clinical and mutational characteristics of oculocutaneous albinism type 7.Semantic proximity Read

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.Semantic proximity Read

Oculocutaneous albinismSemantic proximity Read