Research & Literature

Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa.

Lekalakala PT, Khammissa RA, Kramer B, et al.

Journal of skin cancer 2015; (2015()):167847 doi:10.1155/2015/167847.

Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism.

Farahi A, Hashemi H, Mehravaran S

Journal of cataract and refractive surgery 2015; (41(11)):2438-43.

TYPES OF ALBINISM IN THE BLACK SOUTHERN AFRICA POPULATION.

Kromberg JG, Bothwell J, Kidson SH, et al.

East African medical journal 2012; (89(1)):20-7.

[Role of SD-OCT in the diagnosis and prognosis of macular hypoplasia in nystagmus patients].

Bouraoui R, Bouladi M, Nefaa F, et al.

Journal francais d'ophtalmologie 2016; (39(3)):272-6.

Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.

Delahanty RJ, Zhang Y, Bichell TJ, et al.

Cell reports 2016; (17(12)):3115-3124 doi:10.1016/j.celrep.2016.11.067.

Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Gao J, D'Souza L, Wetherby K, et al.

Cell & bioscience 2017; (7()):22 doi:10.1186/s13578-017-0149-3.

Purification of Recombinant Human Tyrosinase from Insect Larvae Infected with the Baculovirus Vector.

Dolinska MB, Wingfield PT, Sergeev YV

Current protocols in protein science 2017; (89()):6.15.1-6.15.12 doi:10.1002/cpps.37.

[Oculocutaneous and ocular albinism].

Kubasch AS, Meurer M

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete 2017; (68(11)):867-875 doi:10.1007/s00105-017-4061-x.

Children with albinism in African regions: their rights to 'being' and 'doing'.

Franklin A, Lund P, Bradbury-Jones C, Taylor J

BMC international health and human rights 2018; (18(1)):2 doi:10.1186/s12914-018-0144-8.

Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing.

Qiu B, Ma T, Peng C, et al.

Genetic testing and molecular biomarkers 2018; (22(4)):252-258 doi:10.1089/gtmb.2017.0211.

Clinical characteristics and causes of visual impairment in a low vision clinic in northern Jordan.

Bakkar MM, Alzghoul EA, Haddad MF

Clinical ophthalmology (Auckland, N.Z.) 2018; (12()):631-637 doi:10.2147/OPTH.S153754.

Visual Development During the Second Decade of Life in Albinism.

McCafferty BK, Holleschau AM, Connett JE, Summers CG

Journal of pediatric ophthalmology and strabismus 2018; (55(4)):254-259 doi:10.3928/01913913-20180327-02.

Changes in refractive errors in albinism: a longitudinal study over the first decade of life.

Schweigert A, Lunos S, Connett J, Summers CG

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2018; (22(6)):462-466 doi:10.1016/j.jaapos.2018.08.005.

[Mutation analysis of two pedigrees with suspected oculocutaneous albinism].

Ye H, Lan X, Qiao T, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(3)):212-216 doi:10.3760/cma.j.issn.1003-9406.2019.03.005.

Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.

Farney SK, Dolinska MB, Sergeev YV

Journal of analytical & pharmaceutical research 2018; (7(6)):621-632 doi:10.15406/japlr.2018.07.00293.

Coexistence of Hermansky-Pudlak syndrome and JAK2V617F-positive essential thrombocythemia.

Eskazan T, Erturkuner SP, Isildar B, et al.

Ultrastructural pathology 2019; (43(1)):94-98 doi:10.1080/01913123.2019.1593269.

Amelanotic Ciliochoroidal Melanoma in a Patient with Oculocutaneous Albinism.

Sivalingam MD, Dalvin LA, Shields CL, et al.

Ocular oncology and pathology 2019; (5(3)):182-185 doi:10.1159/000490913.

NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism.

Okamura K, Hayashi M, Abe Y, et al.

Pigment cell & melanoma research 2019; (32(6)):848-853 doi:10.1111/pcmr.12800.

Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report.

Wang H, Wan Y, Yang Y, et al.

BMC medical genetics 2019; (20(1)):130 doi:10.1186/s12881-019-0850-7.

A rare case of acral amelanotic melanoma, nodular type.

Mohammed Saeed D, Braniecki M, Groth JV

International wound journal 2019; (16(6)):1445-1449 doi:10.1111/iwj.13212.

Nystagmus associated with macular dysplasia.

Wang FB

Strabismus 2020; (28(1)):17-19 doi:10.1080/09273972.2019.1668028.

Amelanotic melanoma in a patient with oculocutaneous albinism.

Ruiz-Sanchez D, Garabito Solovera EL, Valtueña J, et al.

Dermatology online journal 2020; (26(5)).

Diagnostic Delays in Metastatic Amelanotic Melanoma Presenting as Breast Pain.

Do T, Epistola R, Hua DT, et al.

The American journal of case reports 2020; (21()):e921360 doi:10.12659/AJCR.921360.

The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.

Kidd KK, Pakstis AJ, Donnelly MP, et al.

Scientific reports 2020; (10(1)):15433 doi:10.1038/s41598-020-72262-6.

SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation.

Le L, Escobar IE, Ho T, et al.

Molecular biology of the cell 2020; (31(24)):2687-2702 doi:10.1091/mbc.E20-03-0200.

Current landscape of Oculocutaneous Albinism in Japan.

Okamura K, Suzuki T

Pigment cell & melanoma research 2021; (34(2)):190-203 doi:10.1111/pcmr.12927.

Case report: diagnosis and treatment of attention deficit hyperactivity disorder and autism spectrum disorder in patients diagnosed with oculocutaneous albinism.

Ünsel Bolat G

Neurocase 2020; (26(6)):360-363 doi:10.1080/13554794.2020.1853174.

Visual rehabilitation of people with oculocutaneous albinism in a tertiary clinical setting in Pakistan.

Shah M, Khan MT, Saeed N

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 2020; (34(2)):111-115 doi:10.4103/1319-4534.305036.

Oral amelanotic malignant melanoma: a case report.

Aziz Z, Aboulouidad S, Bouihi ME, et al.

The Pan African medical journal 2020; (37()):350 doi:10.11604/pamj.2020.37.350.27330.

Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients.

Ramos AN, Ramos JGR, Fernandes JD

Revista da Associacao Medica Brasileira (1992) 2021; (67(1)):77-82 doi:10.1590/1806-9282.67.01.20200356.

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

Dumitrescu AV, Tran J, Pfeifer W, et al.

Ophthalmic genetics 2021; (42(5)):539-552 doi:10.1080/13816810.2021.1933544.

Clinical phenocopies of albinism.

Dumitrescu AV, Pfeifer WL, Drack AV

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2021; (25(4)):220.e1-220.e8 doi:10.1016/j.jaapos.2021.03.015.

Computational Investigation of the pH Dependence of Stability of Melanosome Proteins: Implication for Melanosome formation and Disease.

Koirala M, Shashikala HBM, Jeffries J, et al.

International journal of molecular sciences 2021; (22(15)) doi:10.3390/ijms22158273.

The role of drugs and selected dietary factors in cutaneous squamous cell carcinogenesis.

Damps T, Czuwara J, Warszawik-Hendzel O, et al.

Postepy dermatologii i alergologii 2021; (38(2)):198-204 doi:10.5114/ada.2021.106196.

Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.

Ma L, Zhu J, Wang J, et al.

Frontiers in genetics 2021; (12()):715437 doi:10.3389/fgene.2021.715437.

Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.

Hovnik T, Debeljak M, Tekavčič Pompe M, et al.

Acta chimica Slovenica 2021; (68(3)):683-692.

In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium.

George A, Sharma R, Pfister T, et al.

Stem cell reports 2022; (17(1)):173-186 doi:10.1016/j.stemcr.2021.11.016.

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

Kruijt CC, Gradstein L, Bergen AA, et al.

Investigative ophthalmology & visual science 2022; (63(1)):19 doi:10.1167/iovs.63.1.19.

[Method of surgical treatment of patients with oculocutaneous albinism using artificial iris].

Sobolev NP, Teplovodskaya VV, Sudakova EP

Vestnik oftalmologii 2022; (138(1)):58-63 doi:10.17116/oftalma202213801158.

Abnormal foveal morphology in carriers of oculocutaneous albinism.

Kuht HJ, Thomas MG, McLean RJ, et al.

The British journal of ophthalmology 2023; (107(8)):1202-1208 doi:10.1136/bjophthalmol-2020-318192.

NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.

Xiao Y, Zhou C, Xie H, et al.

BMC genomics 2022; (23(1)):332 doi:10.1186/s12864-022-08597-3.

Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.

Neveu MM, Padhy SK, Ramamurthy S, et al.

Clinical ophthalmology (Auckland, N.Z.) 2022; (16()):1569-1587 doi:10.2147/OPTH.S329282.

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Ullah MI

Genes 2022; (13(6)) doi:10.3390/genes13061072.

Genetic analyses of Vietnamese patients with oculocutaneous albinism.

Thuong MTH, Anh LTL, Nhung VP, et al.

Journal of clinical laboratory analysis 2022; (36(9)):e24625 doi:10.1002/jcla.24625.

Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.

Zhong Z, Zhou Z, Chen J, Zhang J

Frontiers in genetics 2022; (13()):926511 doi:10.3389/fgene.2022.926511.

Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo.

Aquaron R, Lasseaux E, Kelekele J, et al.

European journal of medical genetics 2022; (65(10)):104594 doi:10.1016/j.ejmg.2022.104594.

Molecular genetic characterization of Congolese patients with oculocutaneous albinism.

Laetitia MM, Veronique K, Mamy NZ, et al.

European journal of medical genetics 2022; (65(11)):104611 doi:10.1016/j.ejmg.2022.104611.

Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.

Arcot Sadagopan K, Teng CH, Hui G, Lin DL

Ophthalmic genetics 2023; (44(1)):54-69 doi:10.1080/13816810.2022.2135109.

Overview of familial syndromes with increased skin malignancies.

Juan HY, Zhou AE, Hoegler KM, Khachemoune A

Archives of dermatological research 2023; (315(4)):707-727 doi:10.1007/s00403-022-02447-8.

Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues.

Kromberg JGR, Kerr R

African journal of disability 2022; (11()):877 doi:10.4102/ajod.v11i0.877.

[Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review].

Zhou QJ, Gong P, Jiao XR, Yang ZX

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2023; (55(1)):181-185.

Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective.

Galli J, Loi E, Dusi L, et al.

European journal of pediatrics 2023; (182(6)):2723-2733 doi:10.1007/s00431-023-04938-w.

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.

Michaud V, Sequeira A, Mercier E, et al.

Pigment cell & melanoma research 2024; (37(5)):534-545 doi:10.1111/pcmr.13123.

Stacked implantation of two prosthetic iris devices for patients with iris defects: A modified surgical technique.

Rabinovitch DE, Buhrmann R, Varma DK

American journal of ophthalmology case reports 2023; (32()):101921 doi:10.1016/j.ajoc.2023.101921.

Foveal Hypoplasia in a Child With Tyrosinase-Positive Albinism.

Kavalaraki A, Paraskevopoulos K, Kavalaraki M, et al.

Cureus 2023; (15(9)):e44558 doi:10.7759/cureus.44558.

Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.

Jiang B, Zhang H, Kan Y, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2297 doi:10.1002/mgg3.2297.

Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.

Zaman Q, Khan J, Ahmad M, et al.

Gene 2024; (894()):147986 doi:10.1016/j.gene.2023.147986.

Visual Impairment and Low Vision Aids-A Comparison between Children and Adults.

Perrault MA, Lauer G, Voss S, et al.

Journal of personalized medicine 2023; (13(11)) doi:10.3390/jpm13111608.

Integrated sun protection advice for the South African population.

Tod B, Whitaker D, Visser W, et al.

International journal of dermatology 2024; (63(3)):277-287 doi:10.1111/ijd.16980.

Visual acuity improvement in children with albinism beyond the first decade of life.

Yahalom C, Navarrete A, Juster A, et al.

PloS one 2024; (19(1)):e0296744 doi:10.1371/journal.pone.0296744.

[A case for the inclusion of oculocutaneous albinism as a skin-related Neglected Tropical Disease].

Aquaron R, Lund P, Baker C

Medecine tropicale et sante internationale 2023; (3(4)) doi:10.48327/mtsi.v3i4.2023.434.

Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.

Woertz EN, Ayala GD, Wynne N, et al.

Investigative ophthalmology & visual science 2024; (65(3)):3 doi:10.1167/iovs.65.3.3.

Clinical and mutational characteristics of oculocutaneous albinism type 7.

Kruijt CC, de Wit GC, van Minderhout HM, et al.

Scientific reports 2024; (14(1)):7572 doi:10.1038/s41598-024-57969-0.

Cataract surgery and artificial iris implantation in patient with oculocutaneous albinism: a case report.

Peixoto GV, Martinho GT, Conti CCT, et al.

Arquivos brasileiros de oftalmologia 2024; (87(4)):e2022 doi:10.5935/0004-2749.2022-0286.

Nystagmus and Foveal Hypoplasia in a Carrier of Oculocutaneous Albinism.

Arora N, Hoyek S, Patel NA

Ophthalmic surgery, lasers & imaging retina 2024; (55(6)):349-353 doi:10.3928/23258160-20240207-03.

Curation of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays.

Yang Q, Wang Y, Wang Z, et al.

Pigment cell & melanoma research 2025; (38(1)):e13212 doi:10.1111/pcmr.13212.

"Exploring the intersection of albinism and Trichilemmal carcinoma: A case of bilateral trichilemmal carcinoma in the axilla".

Dfallah MA, Elamin AM, Gerib MA, et al.

International journal of surgery case reports 2025; (128()):110926 doi:10.1016/j.ijscr.2025.110926.

Albinism research in a Southern African setting: unique findings.

Kromberg JGR, Kerr RA

Journal of community genetics 2025; (16(2)):107-116 doi:10.1007/s12687-025-00786-3.

Thirteen-year-old Child Develops Squamous Cell Carcinoma Without Underlying Causes.

Kuru A, Kokacya O

Plastic and reconstructive surgery. Global open 2025; (13(4)):e6706 doi:10.1097/GOX.0000000000006706.

Case Report: Genetic analysis of oculocutaneous albinism type 2 caused by a new mutation in the OCA2.

Luo L, Ma M, Yang Y, Zhao H

Frontiers in pediatrics 2025; (13()):1508198 doi:10.3389/fped.2025.1508198.

Clinico-pathologic profile of skin cancers in oculocutaneous albinism at Universitas Academic Hospital.

Makuru MH, Maruma F, Ngwenya E, Mponda K

Health SA = SA Gesondheid 2025; (30()):2906 doi:10.4102/hsag.v30i0.2906.

Typical presentation of autosomal recessive oculocutaneous albinism in two siblings.

Nishant P, Aftab N, Saha B, Raj A

GMS ophthalmology cases 2025; (15()):Doc01 doi:10.3205/oc000249.

Strabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters.

Dobhal V, Kumar A, Garg I, et al.

Neurogenetics 2025; (26(1)):50 doi:10.1007/s10048-025-00830-x.

Oculocutaneous albinism in a patient with an OCA2 variant: molecular and clinical insights.

Neissi M, Al-Mozani SK, Al-Zaalan AR, et al.

Asian biomedicine : research, reviews and news 2025; (19(3)):154-163 doi:10.2478/abm-2025-0019.

Hermansky-Pudlak Syndrome.

Wang JY, Young LR

Clinics in chest medicine 2025; (46(4)):701-710 doi:10.1016/j.ccm.2025.07.009.

Albinism: from genetics to cell biology and physiopathology.

Diallo M, Salavessa L, Arveiler B, Delevoye C

Presse medicale (Paris, France : 1983) 2025; (55(3)):104333 doi:10.1016/j.lpm.2025.104333.

The prevalence of epidermal skin malignancies in people living with oculocutaneous albinism attending the Universitas Academic Hospital, Bloemfontein, South Africa.

Makhakhe L, Oliver BJ, Motloung M, et al.

Dermatology reports 2025; doi:10.4081/dr.2025.10038.

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

Niknam J, Petrosyan A, Agustin V, Shoubaki A

Case reports in pediatrics 2026; (2026()):5514931 doi:10.1155/crpe/5514931.