Results 11 to 20 of about 6,439 (248)

Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism. [PDF]

Pigment Cell Melanoma Res
This study defines multi‐allele haplotypes, comprised of rare disease variants combined with common eQTL, sQTL and GWAS variants, for oculocutaneous albinism type 2 (OCA2). These haplotypes have implications for variant pathogenicity assessments and phenotypic variability.
Gillis MF, Ames MR, Lundh L, Gotea V, Elnitski L, Donovan F, NISC Comparative Sequencing Program, Adeyemo A, Rotimi C, Brooks B, Zein W, Gahl W, Oetting WS, Adams DR, Loftus SK.   +14 more
europepmc   +3 more sources

Oculocutaneous albinism type 1 [PDF]

, 2020
INSERM
openalex   +2 more sources

Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case [PDF]

Molecular Genetics & Genomic Medicine
Background Oculocutaneous albinism type 4 (OCA4) is a rare autosomal recessive disorder characterized by a reduction of pigmentation in skin, hair, and eyes, and OCA4 is mainly seen in the SLC45A2 gene variants.
Danyue He, Xiaonan Liu, Tianyu Yao, Jie Hu, Xiaodong Zheng, Lili Tang, Xing Fan   +6 more
doaj   +2 more sources

Oculocutaneous Albinism associated with Axenfeld’s Anomaly : Three case reports

Sultan Qaboos University Medical Journal, 2010
Oculocutaneous albinism and anterior mesodermal dysgenesis are well-known heritable conditions, but their occurrence in association has only been rarely reported.
B R Keshav, Mahmood J Mohammed, Nasir Mahmood   +2 more
doaj   +2 more sources

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting. [PDF]

Case Rep Pediatr
Purpose To present a case of type II oculocutaneous albinism (OCA2) diagnosed in infancy following the finding of nystagmus, and to review the diagnostic process and the management of this disorder. Observation A 4‐month‐old female presented with subtle, roving eyes that were initially attributed to normal development.
Niknam J, Petrosyan A, Agustin V, Shoubaki A.   +3 more
europepmc   +2 more sources

Low-vision intervention for oculocutaneous albinism in a Tertiary Eye Care Hospital in India. [PDF]

Saudi J Ophthalmol, 2023
Gopalakrishnan S, Negiloni K, Suganthan RV, Velu S, Raman R.   +4 more
europepmc   +3 more sources

Oculocutaneous albinism type 5 [PDF]

, 2020
INSERM
openalex   +2 more sources

Retinal Pigment Epithelium-Targeting Gene Therapy Corrects Ocular Symptoms in Mouse and Rat Models of Oculocutaneous Albinism Type I. [PDF]

MedComm (2020)
RPE‐targeted gene therapy restored melanin expression and relieved ocular dysfunction. By optimizing the injection method, a wider range of melanin expression and better therapeutic effects have been achieved. ABSTRACT Oculocutaneous albinism (OCA) represents a genetically heterogeneous autosomal recessive condition marked by reduced melanin production
Song L, Ren C, Luo M, Su J, Jin X, Fu J, Xu Q, Wu X, Liu F, Ye Q, Hu M, Liu M, Li Q, An Y, Li M, Wang Q, She K, Lu F, Yang Y.   +18 more
europepmc   +2 more sources

Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel <i>TYR</i> Variant. [PDF]

Clin Case Rep
ABSTRACT Oculocutaneous albinism type IA (OCA1A) is a rare autosomal recessive disorder caused by variants in the TYR gene, resulting in complete loss of tyrosinase activity and absence of melanin production. In this study, we report a novel missense variant, TYR (NM_000372.5):c.143A>C (p.Gln48Pro), found within exon 1 and mapped to chr11: g.89178096A ...
Shihab RN, Hamid RT, Neissi M, Mohammadi-Asl J, Sheikh-Hosseini M, Nekouei E.   +5 more
europepmc   +2 more sources

Foveal hypoplasia in oculocutaneous albinism: An optical coherence tomography study

African Vision and Eye Health, 2023
Background: Albinism is an inherited condition characterised by a lack of pigmentation. Foveal hypoplasia, which occurs because of disruptions in normal foveal development, is commonly observed in albinism.
Ethan Pillay, Nishanee Rampersad
doaj   +1 more source