Article

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

2023-10-31

Abstract excerpt

<h4>Purpose: </h4> To expand on the phenotype of oculocutaneous albinism type 7 (OCA7). Patients and Methods: We describe three patients with OCA7: two from a consanguineous family of Kurdish origin and one patient of Dutch origin. We compare them with all patients described to date in the literature. <h4>Results: </h4>: All newly described patients had severely reduced visual acuity (VA), nystagmus, hypopigment...

Topics

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

Identifiers and source

Literature Corpus work: 87b9d991-2616-5370-9b95-8a085ab402fc
DOI: 10.21203/rs.3.rs-3491920/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Oculocutaneous albinism type 7: Overlap and differences with other types of non-syndromic albinismDOI 10.21203/rs.3.rs-3491920/v1Read

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

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

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

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

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

Oculocutaneous albinismSemantic proximity Read

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

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.Semantic proximity Read

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

Albinism in Europe.Semantic proximity Read

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

Albinism: an update.Semantic proximity Read