Research & Literature

A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndrome.

Özdemir N, Çelik E, Başlar Z, Celkan T

Turk pediatri arsivi 2014; (49(2)):163-6 doi:10.5152/tpa.2014.1071.

Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

Khordadpoor-Deilamani F, Akbari MT, Karimipoor M, Javadi G

Molecular vision 2015; (21()):730-5.

Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.

Maaloul I, Talmoudi J, Chabchoub I, et al.

Hematology/oncology and stem cell therapy 2016; (9(2)):71-5.

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.

The ophthalmic presentation of Hermansky-Pudlak syndrome 6.

Hull S, Arno G, Holder GE, et al.

The British journal of ophthalmology 2016; (100(11)):1521-1524 doi:10.1136/bjophthalmol-2015-308067.

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.

Vici syndrome: a review.

Byrne S, Dionisi-Vici C, Smith L, et al.

Orphanet journal of rare diseases 2016; (11()):21 doi:10.1186/s13023-016-0399-x.

[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.

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.

Vicary GW, Vergne Y, Santiago-Cornier A, et al.

Annals of the American Thoracic Society 2016; (13(10)):1839-1846 doi:10.1513/AnnalsATS.201603-186FR.

Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Mauri L, Manfredini E, Del Longo A, et al.

Journal of human genetics 2017; (62(2)):277-290 doi:10.1038/jhg.2016.123.

Mutation analysis of a Chinese family with oculocutaneous albinism.

Wang X, Zhu Y, Shen N, et al.

Oncotarget 2016; (7(51)):84981-84988 doi:10.18632/oncotarget.13109.

A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.

Andres O, Wiegering V, König EM, et al.

Pediatric blood & cancer 2017; (64(5)) doi:10.1002/pbc.26320.

Proposal for management and dermoscopy follow-up of nevi in patients affected by oculocutaneous albinism type Ia.

Peralta R, Sabban EC, Friedman P, et al.

Dermatology practical & conceptual 2017; (7(1)):39-42 doi:10.5826/dpc.0701a07.

The consequences of deglycosylation of recombinant intra-melanosomal domain of human tyrosinase.

Dolinska MB, Sergeev YV

Biological chemistry 2017; (399(1)):73-77 doi:10.1515/hsz-2017-0178.

[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.

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.

A Saudi Infant with Vici Syndrome: Case Report and Literature Review.

Alzahrani A, Alghamdi AA, Waggass R

Open access Macedonian journal of medical sciences 2018; (6(6)):1081-1084 doi:10.3889/oamjms.2018.271.

The Phenotypic Spectrum of Albinism.

Kruijt CC, de Wit GC, Bergen AA, et al.

Ophthalmology 2018; (125(12)):1953-1960 doi:10.1016/j.ophtha.2018.08.003.

Synchronous Triple Malignancies in an Indian Albino: A Case Report.

Darlington D, Puthanmadhom Narayanan S, Anitha FS

Cureus 2018; (10(8)):e3190 doi:10.7759/cureus.3190.

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.

Han CG, O'Brien KJ, Coon LM, et al.

American journal of medical genetics. Part A 2018; (176(12)):2819-2823 doi:10.1002/ajmg.a.40514.

Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.

Wei A, Yuan Y, Qi Z, et al.

Pigment cell & melanoma research 2019; (32(3)):373-380 doi:10.1111/pcmr.12748.

The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A.

Teramae A, Kobayashi Y, Kunimoto H, et al.

The Journal of investigative dermatology 2019; (139(5)):1143-1149 doi:10.1016/j.jid.2018.10.033.

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.

Monfermé S, Lasseaux E, Duncombe-Poulet C, et al.

The British journal of ophthalmology 2019; (103(9)):1239-1247 doi:10.1136/bjophthalmol-2018-312729.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Grønskov K, Jespersgaard C, Bruun GH, et al.

Scientific reports 2019; (9(1)):645 doi:10.1038/s41598-018-37272-5.

A Case of Oculocutaneous Albinism in a Patient with Hashimoto's Thyroiditis.

de Gennaro G, Vitti P, Marinò M

European thyroid journal 2019; (8(1)):56-58 doi:10.1159/000493730.

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.

Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Zhong Z, Gu L, Zheng X, et al.

Pigment cell & melanoma research 2019; (32(5)):672-686 doi:10.1111/pcmr.12790.

The TYRP1-mediated protection of human tyrosinase activity does not involve stable interactions of tyrosinase domains.

Dolinska MB, Wingfield PT, Young KL, Sergeev YV

Pigment cell & melanoma research 2019; (32(6)):753-765 doi:10.1111/pcmr.12791.

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

Yang Q, Yi S, Li M, et al.

BMC medical genetics 2019; (20(1)):106 doi:10.1186/s12881-019-0842-7.

Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production.

Zhang Z, Gong J, Sviderskaya EV, et al.

Journal of cell science 2019; (132(14)) doi:10.1242/jcs.232009.

Hermansky-Pudlak syndrome with interstitial lung disease: A holistically worked up couplet.

Gupta A, Utpat K, Desai U, Joshi JM

Lung India : official organ of Indian Chest Society 2019; (36(4)):345-348 doi:10.4103/lungindia.lungindia_258_18.

The diagnostic accuracy of dermoscopy and reflectance confocal microscopy for amelanotic/hypomelanotic melanoma: a systematic review and meta-analysis.

Lan J, Wen J, Cao S, et al.

The British journal of dermatology 2020; (183(2)):210-219 doi:10.1111/bjd.18722.

A Rare Case of Hermansky-Pudlak Syndrome Type 3.

Alcid J, Kim J, Bruni D, Lawrence I

Journal of hematology 2018; (7(2)):76-78 doi:10.14740/jh387w.

Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort.

Schidlowski L, Liebert F, Iankilevich PG, et al.

Frontiers in genetics 2020; (11()):397 doi:10.3389/fgene.2020.00397.

Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines.

Serra-Vinardell J, Sandler MB, Pak E, et al.

Stem cell research 2020; (47()):101883 doi:10.1016/j.scr.2020.101883.

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.

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.

Melanosome transport and regulation in development and disease.

Tian X, Cui Z, Liu S, et al.

Pharmacology & therapeutics 2021; (219()):107707 doi:10.1016/j.pharmthera.2020.107707.

Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.

Xu C, Xiang Y, Li H, et al.

Journal of clinical laboratory analysis 2021; (35(2)):e23647 doi:10.1002/jcla.23647.

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.

Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.

Yokoyama T, Gochuico BR

European respiratory review : an official journal of the European Respiratory Society 2021; (30(159)) doi:10.1183/16000617.0193-2020.

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.

Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.

Zamani R, Shahkarami S, Rezaei N

Allergologia et immunopathologia 2021; (49(2)):178-190 doi:10.15586/aei.v49i2.61.

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.

Volk AE, Hedergott A, Preising M, et al.

Human genetics 2021; (140(8)):1157-1168 doi:10.1007/s00439-021-02285-0.

Biophysical Compatibility of a Heterotrimeric Tyrosinase-TYRP1-TYRP2 Metalloenzyme Complex.

Lavinda O, Manga P, Orlow SJ, Cardozo T

Frontiers in pharmacology 2021; (12()):602206 doi:10.3389/fphar.2021.602206.

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.

Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.

Koh K, Tsuchiya M, Ishiura H, et al.

Journal of human genetics 2022; (67(2)):119-121 doi:10.1038/s10038-021-00977-z.

Evaluation of the acceptance and efficacy of a bespoke sun protection package for persons with oculocutaneous albinism living in Malawi.

Gilaberte Y, Mzumara TE, Manjolo SP, et al.

International journal of dermatology 2022; (61(3)):352-360 doi:10.1111/ijd.15793.

A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.

Boeckelmann D, Wolter M, Käsmann-Kellner B, et al.

Cells 2021; (10(10)) doi:10.3390/cells10102630.

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.

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).

Lin S, Sanchez-Bretaño A, Leslie JS, et al.

NPJ genomic medicine 2022; (7(1)):2 doi:10.1038/s41525-021-00275-9.

Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.

Ma EZ, Zhou AE, Hoegler KM, Khachemoune A

Archives of dermatological research 2023; (315(2)):107-116 doi:10.1007/s00403-022-02335-1.

[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.

Lung Transplantation for Pulmonary Fibrosis Associated With Hermansky-Pudlak Syndrome. A Single-center Experience.

Benvenuto L, Qayum S, Kim H, et al.

Transplantation direct 2022; (8(4)):e1303 doi:10.1097/TXD.0000000000001303.

The prevalence of nonmelanoma skin cancer in a population of patients with oculocutaneous albinism in Haiti.

Hassan S, Louis SJ, Fethiere M, et al.

International journal of dermatology 2022; (61(7)):867-871 doi:10.1111/ijd.16199.

Ablation of Proton/Glucose Exporter SLC45A2 Enhances Melanosomal Glycolysis to Inhibit Melanin Biosynthesis and Promote Melanoma Metastasis.

Liu Y, Chi W, Tao L, et al.

The Journal of investigative dermatology 2022; (142(10)):2744-2755.e9 doi:10.1016/j.jid.2022.04.008.

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.

The retinal pigmentation pathway in human albinism: Not so black and white.

Bakker R, Wagstaff EL, Kruijt CC, et al.

Progress in retinal and eye research 2022; (91()):101091 doi:10.1016/j.preteyeres.2022.101091.

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.

Novel EPG5 Mutation Associated with Vici Syndrome Gene.

Mahjoubi F, Shabani S, Khakbazpour S, Khaligh Akhlaghi A

Case reports in genetics 2022; (2022()):5452944 doi:10.1155/2022/5452944.

Characterizing melanoma in the setting of oculocutaneous albinism: an analysis of the literature.

Ravichandran S, Funchain P, Arbesman J

Archives of dermatological research 2023; (315(8)):2413-2417 doi:10.1007/s00403-022-02364-w.

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.

Case series on Silvery Hair Syndromes: Single Center Experience.

Siddiahgari S, Soma SK, Penmetcha C, et al.

Indian journal of dermatology 2022; (67(2)):164-168 doi:10.4103/ijd.IJD_723_20.

Cutaneous and lip squamous cell carcinomas in an albinism patient: A case report.

Siauta JF, Windura CA, Putra LK

Annals of medicine and surgery (2012) 2022; (81()):104556 doi:10.1016/j.amsu.2022.104556.

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.

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.

Vansenne F, Fock JM, Stolte-Dijkstra I, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2022; (41()):91-98 doi:10.1016/j.ejpn.2022.11.003.

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.

Chediak-Higashi syndrome.

Talbert ML, Malicdan MCV, Introne WJ

Current opinion in hematology 2023; (30(4)):144-151 doi:10.1097/MOH.0000000000000766.

Evaluating the Cysteine-Rich and Catalytic Subdomains of Human Tyrosinase and OCA1-Related Mutants Using 1 μs Molecular Dynamics Simulation.

Woods T, Sergeev YV

International journal of molecular sciences 2023; (24(17)) doi:10.3390/ijms241713032.

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.

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.

Primary amelanotic malignant melanoma masquerading as adenocarcinoma prostate - A pathological dilemma.

Kudunthail JR, Sandhu AS, Nalwa A, Bhirud DP

Indian journal of urology : IJU : journal of the Urological Society of India 2023; (39(4)):325-327 doi:10.4103/iju.iju_178_23.

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

Chen C, Li J, Wang B, et al.

Experimental eye research 2024; (239()):109761 doi:10.1016/j.exer.2023.109761.

Generation and characterization of retinal pigment epithelium from patient iPSC line to model oculocutaneous albinism (OCA)1A disease.

Subramani J, Patlolla N, Battu R, et al.

Journal of biosciences 2024; (49()).

[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.

Dermoscopy and reflectance confocal microscopy of solitary flat pink lesions: A new combined score to diagnose amelanotic melanoma.

Spadafora M, Megna A, Lippolis N, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2025; (39(1)):109-116 doi:10.1111/jdv.19991.

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.

Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report.

Bjeloš M, Ćurić A, Bušić M, et al.

International journal of molecular sciences 2024; (25(12)) doi:10.3390/ijms25126442.

After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.

Serrano-González J, Montes-Rodríguez I, Renta JY, et al.

Molecular genetics & genomic medicine 2024; (12(7)):e2493 doi:10.1002/mgg3.2493.

Hermansky-Pudlak Syndrome Type 2: A Case Report on an Ultra-Rare Disorder.

Alasmari BG, Wafa S, Tahir AM, et al.

Cureus 2024; (16(7)):e65114 doi:10.7759/cureus.65114.

Reflectance Confocal Microscopy and Dermoscopy for the Diagnosis of Solitary Hypopigmented Pink Lesions: A Narrative Review.

Ambrosio L, Pogorzelska-Antkowiak A, Retrosi C, et al.

Cancers 2024; (16(17)) doi:10.3390/cancers16172972.

Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear.

Tajik S, Fazlollahi MR, Alizadeh Z, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2024; (35(11)):e14264 doi:10.1111/pai.14264.

Role of Morphology in the Diagnosis of an Unsuspected Case of Chediak-Higashi Syndrome: A Case Report.

Rajyalakshmi R, Kusa Raju P

Cureus 2024; (16(12)):e75128 doi:10.7759/cureus.75128.

Identification of a RAB32-LRMDA-Commander membrane trafficking complex reveals the molecular mechanism of human oculocutaneous albinism type 7.

Butkovič R, Healy MD, de Heus C, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.02.04.636395.

Skin Cancers in People With Albinism: An Overview and Review of Literature.

Kassang P, Akakpo SA, Teclessou JN, et al.

International journal of dermatology 2025; (64(11)):1986-1994 doi:10.1111/ijd.17719.

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.

Unusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 (OCA-4): Clinical and Functional Features From A Chinese Family.

Zhang Y, Liu T, Yang Q, et al.

Pigment cell & melanoma research 2025; (38(3)):e70013 doi:10.1111/pcmr.70013.

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.

A novel 5bp deletion in HPS4 gene associates with Hermansky-Pudlak Syndrome.

Premkumar S, Shiva Sankari S, Sandhra G, et al.

Ophthalmic genetics 2025; (46(5)):474-478 doi:10.1080/13816810.2025.2502361.

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.

Masquerading as lymphoma: the accelerated phase of Chediak-Higashi syndrome and its novel mutation.

Aggarwal P, Agarwal A, Aggarwal S, et al.

Journal of applied genetics 2025; (66(3)):653-656 doi:10.1007/s13353-025-00986-0.

Griscelli Syndrome: A Case Report from Pakistan, A Review of the Literature, and an Approach to Hematological Disorders Associated With Albinism.

Afzal M, Ashraf S, Humayun L, et al.

Cureus 2025; (17(6)):e86445 doi:10.7759/cureus.86445.

Refractory Colitis in Hermansky-Pudlak Syndrome: A Surgical Case Report.

Serpa-Irizarry M, Rodriguez-Reyes D, Mejias-Febres ED, et al.

Cureus 2025; (17(6)):e86548 doi:10.7759/cureus.86548.

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.

Rapid Diagnosis and Subtyping of Hermansky-Pudlak Syndrome With Flow Cytometry Analysis.

Zhang Y, Liu T, Yang Q, et al.

Pigment cell & melanoma research 2025; (38(5)):e70048 doi:10.1111/pcmr.70048.

Hermansky-Pudlak Syndrome.

Wang JY, Young LR

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

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

Song L, Ren C, Luo M, et al.

MedComm 2025; (6(11)):e70433 doi:10.1002/mco2.70433.

Albinism: Management and care of ophthalmological manifestations.

Rateaux M, Bremond-Gignac D, Robert MP

Presse medicale (Paris, France : 1983) 2025; (55(3)):104334 doi:10.1016/j.lpm.2025.104334.

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.

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.

Cataract surgery with implantation of small aperture acrylic hydrophobic IOL to reduce photophobia in a patient affected by oculocutaneous albinism.

Mularoni A, Mularoni K, Gaudenzi D, et al.

American journal of ophthalmology case reports 2026; (41()):102534 doi:10.1016/j.ajoc.2026.102534.