Spritz RA (1994) Molecular genetics of oculocutaneous albinism. Hum Mol Genet 3(suppl 1):1469–1475
Marçon CR, Maia M (2019) Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors. An Bras Dermatol 94:503–520
Article PubMed PubMed Central Google Scholar
Ruk M et al (2023) A cross sectional surevy of the knowledge and attitude towords albinism diseases and prevalance of albino in district Khair Pur. J Posit School Psychol 1139–1148
Verma A et al (2023) Skin protection from solar ultraviolet radiation using natural compounds: a review. Environ Chem Lett 1–23
Bakker R et al (2022) The retinal pigmentation pathway in human albinism: not so black and white. Prog Retin Eye Res 91:101091
Article CAS PubMed Google Scholar
Qo‘zibayevna SD (2023) Albinism disease-classification, diagnosis, symptoms and treatment measures. J Univers Sci Res 1(6):215–222
Minné D, Marnewick JL, Engel-Hills P (2023) Early chronic stress induced changes within the locus coeruleus in sporadic alzheimer’s disease. Curr Alzheimer Res 20(5):301–317
Yahya SAA (2023) The causes of retinal dystrophy and the development of more comprehensive screening approach. University of Leeds
Zi F et al (2023) Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families. BMC Med Genom 16(1):223
Grønskov K, Ek J, Brondum-Nielsen K (2007) Oculocutaneous albinism. Orphanet J Rare Dis 2:1–8
Gahl WA et al (1998) Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky–Pudlak syndrome). N Engl J Med 338(18):1258–1265
Article CAS PubMed Google Scholar
Maia M et al (2015) Quality of life in patients with oculocutaneous albinism. An Bras Dermatol 90:513–517
Article PubMed PubMed Central Google Scholar
Qayyum M et al (2023) Patterns of refractive errors in albino patients in pediatric age group. Prof Med J 30(04):451–455
AlAbdi L et al (2023) PMEL is mutated in oculocutaneous albinism. Hum Genet 142(1):139–144
Article CAS PubMed Google Scholar
Malhotra AK et al (2006) Griscelli syndrome. J Am Acad Dermatol 55(2):337–340
Van Gele M, Dynoodt P, Lambert J (2009) Griscelli syndrome: a model system to study vesicular trafficking. Pigment Cell Melanoma Res 22(3):268–282
Kasl Z et al (2024) Neurological disorders. Ocular manifestations of systemic diseases. Springer, Berlin, pp 375–446
Norman C (2019) A genetic study of the childhood eye disorder: congenital nystagmus. University of Southampton
Levin LA et al (2022) Neuroprotection in neurodegenerations of the brain and eye: lessons from the past and directions for the future. Front Neurol 13:964197
Article PubMed PubMed Central Google Scholar
Hörakustik A (2015) Visual consequences of albinism.
Tesoro C et al (2023) A critical overview of Enzyme-Based electrochemical biosensors for L-Dopa detection in biological samples. Chemosensors 11(10):523
Manga P (2018) Molecular biology of albinism. In: Albinism in Africa. Elsevier, Amsterdam, pp 99–119
Kamaraj B, Purohit R (2014) Mutational analysis of oculocutaneous albinism: a compact review. BioMed Res Int
Ghosh Roy S et al (2023) Mutation in SLC45A2 leads to loss of melanin in parrot feathers. bioRxiv 2023.08.29.555428
Nagatsu T et al (2023) The role of tyrosine hydroxylase as a key player in neuromelanin synthesis and the association of neuromelanin with parkinson’s disease. J Neural Transm 130(5):611–625
Article CAS PubMed Google Scholar
Basavarajappa D et al (2023) Signalling pathways and cell death mechanisms in glaucoma: insights into the molecular pathophysiology. Mol Aspects Med 94:101216
Article CAS PubMed Google Scholar
Constantin M et al (2023) Landscape of genetic mutations in appendiceal cancers. Cancers 15(14):3591
Article CAS PubMed PubMed Central Google Scholar
Ma EZ et al (2023) Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues. Arch Dermatol Res 315(2):107–116
Woods T, Sergeev YV (2023) Evaluating the Cysteine-Rich and catalytic subdomains of human tyrosinase and OCA1-Related mutants using 1 µs molecular dynamics simulation. Int J Mol Sci 24(17):13032
Article CAS PubMed PubMed Central Google Scholar
Elkoshi N et al (2023) ATM signaling delays skin pigmentation upon UV exposure by mediating MITF function towards DNA repair mode. J Invest Dermatol
Walsh S, Kayser M (2023) Prediction of physical characteristics, such as eye, hair, and skin color, based solely on DNA. Forensic DNA applications: an interdisciplinary perspective, p 357
Kromberg JG, Flynn KA, Kerr RA (2023) Determining a worldwide prevalence of oculocutaneous albinism: a systematic review. Investig Ophthalmol Vis Sci 64(10):14–14
Wang Y et al (2023) Genetic analysis of albinism caused by compound heterozygous mutation of OCA2 gene in a Chinese family
Suzuki T, Tomita Y (2008) Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. J Dermatol Sci 51(1):1–9
Article CAS PubMed Google Scholar
Nkuyubwatsi JJ (2022) Ocular findings in persons with albinism in Bujumbura, Burundi. University of Nairobi
Yang Q et al (2019) Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations. BMC Med Genet 20:1–11
Juan HY et al (2023) Overview of Familial syndromes with increased skin malignancies. Arch Dermatol Res 315(4):707–727
Ullah MI (2022) Clinical and mutation spectrum of autosomal recessive non-syndromic oculocutaneous albinism (nsOCA) in pakistan: a review. Genes 13(6):1072
Article CAS PubMed PubMed Central Google Scholar
Gaylord IWI (2023) Health-related quality of life and factors associated with depression among people with oculocutaneous albinism in Jinja, Uganda
Talbert ML, Malicdan MCV, Introne WJ (2023) Chediak-Higashi syndrome. Curr Opin Hematol 30(4):144–151
Article CAS PubMed PubMed Central Google Scholar
Nazir HF et al (2023) Hermansky-Pudlak syndrome: spectrum in Oman. J Pediatr Hematol Oncol 45(3):e389–e394
Article CAS PubMed Google Scholar
Singh A et al (2014) An Indian boy with griscelli syndrome type 2: case report and review of literature. Indian J Dermatol 59(4):394–397
Seguy P-H et al (2023) Ophthalmologic Phenotype–Genotype correlations in patients with oculocutaneous albinism followed in a reference center. Investig Ophthalmol Vis Sci 64(12):26–26
Sahin MH et al (2023) Overlooked evidence for transmission deficit of pupillary light reflex can be secondary to trigeminal nerve ganglion degeneration following subarachnoid hemorrhage; preliminary experimental study. Neurol Res 1–9
Pilat A et al (2023) Clinical features and imaging characteristics in achiasmia. Brain Commun 5(4):fcad219
Article PubMed PubMed Central Google Scholar
Montijn JS et al (2023) Impaired direction selectivity in the nucleus of the optic tract of albino mice. Investig Ophthalmol Vis Sci 64(11):9
Militaru IV et al (2023) New panel of biomarkers to discriminate between amelanotic and melanotic metastatic melanoma. Front Oncol 12:1061832
Article PubMed PubMed Central Google Scholar
Arcot Sadagopan K et al (2023) Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism. Ophthal Genet 44(1):54–69
Article CAS PubMed Google Scholar
Speidell A, Abid NB, Yano H (2023) Brain-derived neurotrophic factor dysregulation as an essential pathological feature in huntington’s disease: mechanisms and potential therapeutics. Biomedicines 11(8):2275
Article CAS PubMed PubMed Central Google Scholar
Tan C, Zhu W-Y (2023) Genetic and genetically-susceptible hypomelanoses. In: Atlas of pigmentary skin disorders. Springer, Berlin, pp 3–52
Galli J et al (2023) Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective. Eur J Pediatr 182(6):2723–2733
Mancini AJ, Chan LS, Paller AS (1998) Partial albinism with immunodeficiency: griscelli syndrome: report of a case and review of the literature. J Am Acad Dermatol 38(2):295–300
Comments (0)