Revisión bibliográfica sobre Albinismo Oculocutáneo y Ocular
DOI:
https://doi.org/10.26871/killcanasalud.v7i2.979Palabras clave:
Albinismo, albinismo ocular, alteración genéticaResumen
Resumen
El albinismo es el conjunto de condiciones hereditarias en donde existe la disminución o ausencia de la pigmentación en piel y cabello, así como la pigmentación ocular, ocasionando albinismo ocular. Esta patología es de carácter hereditario y está ligado al cromosoma X, afectando en su mayoría a varones. Su origen está ligado al defecto del gen de la proteína G143 y su receptor, específicamente a una mutación de la enzima tirosinasa, productora de melanina. Es una enfermedad de presentación poco frecuente, con una incidencia de 1 por cada 60.000 habitantes, y sus diversos tipos se manifiestan alrededor del mundo con variaciones acorde a cada etnia y mutación genética. Los ojos y el sistema visual presentarán defectos anatómicos, ausencia de pigmentación en el iris, disminución de la agudeza visual, nistagmo, estrabismo y anormalidades en la funcionalidad refractaria. Su diagnóstico se realiza mediante el uso de criterios diagnósticos mayores y menores, relacionándose con su tratamiento respectivo, según sea el caso. El albinismo ocular no tiene cura permanente, por lo tanto, su manejo se centra en el control de la clínica presentada, con el objetivo de mejorar y mantener el estilo de vida del paciente.
Descargas
Citas
Referencias Bibliográficas
Chan HW, Schiff ER, Tailor VK, Malka S, Neveu MM, Theodorou M, et al. Prospective study of the phenotypic and mutational spectrum of ocular albinism and oculocutaneous albinism. Genes (Basel). 2021;12(4).
Alvarez I, Smittenaar R, Handley SE, Liasis A, Sereno MI, Schwarzkopf DS, et al. Altered visual population receptive fields in human albinism. Cortex. 2020;128:107–23.
Dufresne H, de Longcamp A, Compain S, Morice-Picard F, Deladrière E, Bekel L, et al. Development and co-construction of a therapeutic patient education program for albinism. Ann Dermatol Venereol. 2021;148(4):246–50.
Federico JR, Krishnamurthy K. Albinism. StatPearls. 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK519018/
Dumitrescu A V., Tran J, Pfeifer W, Bhattarai S V., Kemerley A, Dunn T V., et al. Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism. Ophthalmic Genet. 2021;42(5):539–52.
Kubasch AS, Meurer M. Okulokutaner und okulärer Albinismus Oculocutaneous and ocular albinism. Hautarzt. 2017;68(11):867-875. German.
Oliveira, J., Barros, J., da Moraes, L., Maria, da S., Sabino, E., de Alencar, D., & Costa, F. (2019). ALBINISMO OCULOCUTÂNEO: UMA ANÁLISE GENÉTICA. ANAIS DO II COGEMPI E II COLAGEMP, 84(10)
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-
Delfos NE, van Genderen MM. The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences. Invest Ophthalmol Vis Sci. 2022;63(1):19.
Zou X, Li H, Yang L, Sun Z, Yuan Z, Li H, et al. Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism. Sci Reports. 2017;7(1):1–7.
Luo D, Linpeng S, Zeng L, Tan H, Li Z, Wu L. Molecular genetic study of 59 Chinese Oculocutaneous albinism families. Eur J Med Genet. 2019;62(10):103709.
Campbell P, Ellingford JM, Parry NRA, Fletcher T, Ramsden SC, Gale T, et al. Clinical and genetic variability in children with partial albinism. Sci Rep. 2019;9(1):1–10.
Albahlool AM, Almajed FA, Alwabari ME, Hilmi RM, Abahussain RMS, Alasgah SM, et al. Overview on Ocular Manifestations of Albinism- A Review. J Pharm Res Int. 2021;33:300–8.
Liu S, Kuht HJ, Moon EH, Maconachie GDE, Thomas MG. Current and emerging treatments for albinism. Surv Ophthalmol. 2021;66(2):362–77.
Marçon CR, Maia M. Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors. An Bras Dermatol. 2019;94(5):503–20.
Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, et al. Dopachrome tautomerase variants in patients with oculocutaneous albinism. Genet Med. 2021;23(3):479–87.
Doubková M, Trizuljak J, Vrzalová Z, Hrazdirová A, Blaháková I, Radová L, et al. Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. BMC Pulm Med. 2019;19(1):178.
Aamir A, Kuht HJ, Grønskov K, Brooks BP, Thomas MG. Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update. Eur J Hum Genet. 2021;29(10):1577–83.
Ramos AN, Ramos JGR, Fernandes JD. Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients. Rev Assoc Med Bras. 2021;67(1):77–82.
Tsang SH, Sharma T. X-linked ocular albinism. Adv Exp Med Biol.
;1085:49–52.
Kadyshev V V., Ryazhskaya SA, Khalanskaya O V., Zhurkova N V., Zinchenko RA. Clinical and genetic aspects of albinism. Russ J Clin Ophthalmol. 2021;21(3):175–80.
Lasseaux E, Neveu MM, Fiore M, Morice-Picard F, Arveiler B. Albinism. 2022;78:393–402.
Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007;2(1):1–8.
Gao X, Liu T, Cheng X, Dai A, Liu W, Li R, et al. A novel GPR143 mutation in a Chinese family with X-linked ocular albinism type 1. Mol Med Rep. 2020;21(1):240.
Fernández A, Hayashi M, Garrido G, Montero A, Guardia A, Suzuki T, et al. Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse. Pigment Cell Melanoma Res. 2021;34(4):786–99.
Sun W, Shen Y, Shan S, Han L, Li Y, Zhou Z, et al. Identification of TYR mutations in patients with oculocutaneous albinism. Mol Med Rep. 2018;17(6):8409–13.
Hu Z, Wang K, Bertsch M, Dunn T, Kehoe T, Kemerley AD, et al. Correlation between electroretinography, foveal anatomy and visual acuity in albinism. Doc Ophthalmol. 2019;139(1):21–32.
Alsakran WA, Almadhi NH, Alshamrani AA, Alzahrani YA. Retinal vasoproliferative tumor in ocular albinism. Am J Case Rep. 2020;21:1–4.
Okamura K, Suzuki T. Current landscape of Oculocutaneous Albinism in Japan. Pigment Cell Melanoma Res. 2021;34(2):190-203.
Dolinska MB, Kus NJ, Farney SK, Wingfield PT, Brooks BP, Sergeev Y V. Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity. Pigment Cell Melanoma Res. 2017;30(1):41–52
Masukawa D, Yamada K, Goshima Y. Overexpression of the gene product of ocular albinism 1 (GPR143/OA1) but not its mutant forms inhibits neurite outgrowth in PC12 cells. J Pharmacol Sci. 2019;141(1):41–8.
Chuan Z, Yan Y, Hao S, Zhang Q, Zhou B, Feng X, et al. Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism. Curr Eye Res. 2020;1–4.
Promelle V, Demeer B, Milazzo S.
Patologías congénitas en oftalmología. EMC - Pediatría. 2020;55(2):1–13.
Karlén E, Milestad L, Pansell T. Accommodation and near visual function in children with albinism. Acta Ophthalmol. 2019;97(6):608–15.
Khan KN, Lord EC, Arno G, Islam F, Carss KJ, Raymond F, et al. Detailed retinal imaging in carriers of ocular albinism. Retina. 2018;38(3):620–8.
Kurent A, Brecelj J, Stirn-Kranjc B. Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism. Eur J Ophthalmol. 2020;30(1):147–54.
Hayashi M, Suzuki T. Update on Albinism. 2018;107–21.
Sharma P, Gaur N, Phuljhele S, Saxena R. What’s new for us in strabismus? Indian J Ophthalmol. 2017;65(3):184.
Kubasch AS, Meurer M. Okulokutaner und okulärer Albinismus. Hautarzt. 2017;68(11):867–75.
Hayashi M, Suzuki T. Oculocutaneous Albinism Type 4 Summary Genetic counseling Suggestive Findings. 2019;1–13.
Tsai AL, Agustines D. The Coexistence of Oculocutaneous Albinism with Schizophrenia. Cureus. 2020;12(1).
Moreno-Artero E, Morice-Picard F, Bremond-Gignac D, Drumare-Bouvet I, Duncombe-Poulet C, Leclerc-Mercier S, et al. Management of albinism: French guidelines for diagnosis and care. J Eur Acad Dermatology Venereol. 2021;35(7):1449–59.
Shah M, Khan M, Saeed N. Visual rehabilitation of people with oculocutaneous albinism in a tertiary clinical setting in Pakistan. Saudi J Ophthalmol. 2020;34(2):111–5.
Fazzi E, Micheletti S, Calza S, Merabet L, Rossi A, Galli J, et al. Early visual training and environmental adaptation for infants with visual impairment. Dev Med Child Neurol. 2021;63(10):1180–93.
Papageorgiou E, Lazari K, Gottlob I. The challenges faced by clinicians diagnosing and treating infantile nystagmus Part II: treatment. Expert Rev Ophthalmol. 2021;16(6):449–65.
Pereira DF de L, Araujo EL, Patuzzo FVD. Profile of albinism with low vision and improvement of visual acuity with the adaptation of optical and / or electronic resources. Rev Bras
Oftalmol. 2016;75(6):456–60.
Ma J, Tong CM, MacDonald IM. Recovery of stereopsis after strabismus surgery in X-linked ocular albinism. Can J Ophthalmol. 2020;55(2):e70–2.
Mao X, Chen M, Yu Y, Liu Q, Yuan S, Fan W. Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia. BMC Ophthalmol. 2021;21(1):1–6.
Ehrenberg M, Bagdonite-Bejarano L, Fulton AB, Orenstein N, Yahalom C. Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism. Ophthalmic Genet. 2021;42(3):243–51.
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, et al. The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences. Investig Ophthalmol Vis Sci. 2022;63(1):4–6.
Kessel L, Kjer B, Lei U, Duno M, Grønskov K. Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism. Ophthalmic Genet. 2021;42(3):230–8.
Balasopoulou A, Κokkinos P, Pagoulatos D, Plotas P, Makri OE, Georgakopoulos CD, et al. Successful treatment of aggressive posterior retinopathy of prematurity with diode laser in ocular albinism: A case report. BMC Ophthalmol. 2017;17(1):1.
Jr F, Krishnamurthy K. Albinism Pathophysiology. 2022;1–9.
Blanco-Kelly F, Tarilonte M, Villamar M, Damián A, Tamayo A, Moreno-Pelayo MA, et al. Genetics and epidemiology of aniridia: Updated guidelines for genetic study. Arch Soc Esp Oftalmol. 2021;96:4–14.
Moser R, Klein G. Okulokutaner Albinismus. Hautnah Dermatologie. 2021;37(1):26–33.
Tejada-palacios P. Protocolos ( diagnósticos y terapéuticos ) Aproximación diagnóstica en nistagmus en edad pediátrica Diagnostic approach in paediatric nystagmus. 2018;40(8).
Brucher VC, Heiduschka P, Grenzebach U, Eter N, Biermann J. Distribution of macular ganglion cell layer thickness in foveal hypoplasia: A new diagnostic criterion for ocular albinism. PLoS One. 2019;14(11):1–13.
Luisa Schonhau TB, Joanna Britzmann L, Mario Zanolli S, Jovanka Pavlov N, Trinidad Hasbun Z, Gabriela
Repetto L. Nystagmus secondary to albinism with ocular involvement in a female. Rev Chil Pediatr. 2020;91(4):573–8.
Summers CG, Adams DR. ALBINISM. Cassidy Allanson’s Manag Genet Syndr. 2021
Tarnutzer AA, Straumann D. Nystagmus. Curr Opin Neurol. 2018;31(1):74–80.
Bertsch M, Floyd M, Kehoe T, Pfeifer W, Drack A V. The clinical evaluation of infantile nystagmus: What to do first and why. Ophthalmic Genet. 2017;38(1):22–33.
Volk AE, Hedergott A, Preising M, Rading S, Fricke J, Herkenrath P, et al. Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism. Hum Genet. 2021;140(8):1157–68.
Lingua RW. Correction of exotropia and improved adduction by fixation of the anterior encircling fascia to the medial rectus insertion site following myectomy of the four horizontal rectus muscles for infantile nystagmus. J AAPOS. 2020;24(6):386–8.
Hayashi M, Suzuki T. Oculocutaneous Albinism Type 4. GeneReviews. 2017. 1–22.
Ozen Tunay Z, Ustunyurt Z, Idil A. Causes of severe visual impairment in infants and methods of management. Eye. 2021;35(4):1191–7.
Lohmüller R, Gangloff AS, Wenzel F, Lagrèze WA. Optikushypoplasie und septooptische Dysplasie. Ophthalmologe. 2017;114(8):759–66.
Marçon CR, Maia M. Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors. An Bras Dermatol. 2019;94(5):503.
Yang Q, Yi S, Li M, Xie B, Luo J, Wang J, et al. Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations. BMC Med Genet. 2019;20(1).
Sajid Z, Yousaf S, Waryah YM, Mughal TA, Kausar T, Shahzad M, et al. Genetic Causes of Oculocutaneous Albinism in Pakistani Population. Genes 2021, Vol 12, Page 492. 2021;12(4):492.
Zhang Q, Dou JF, Yu HQ. Oculocutaneous Albinism with Squamous Cell Carcinoma, Bowen’s Disease and Actinic Keratosis: A Case Report. Int J Dermatology Venereol. 2019;2(2):103–5.
Schidlowski L, Liebert F, Iankilevich
PG, Rebellato PRO, Rocha RA, Almeida NAP, et al. Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort. Front Genet. 2020;11:397.
Morales CM, Zenteno JC, Beauregard AM. Clinico-epidemiologic features of oculocutaneous albinism in Mexico City. Invest Ophthalmol Vis Sci. 2018;59(9):1065–1065.
Sayed KM, Abdellah MM, Kamel AG.
Analysis of the Refractive Profile of Children with Oculocutaneous Albinism versus an Age-Matched Non-Albino Group
. Clin Ophthalmol. 2021;15:73–8.Sohajda Z, Széll N, Hayfron J, Facskó A. Modified phacoemulsification in oculocutaneous albinism to reduce photophobia. Spektrum der Augenheilkd. 2021;35(6):217–20.
Morice-Picard F, Taïeb C, Marti A, Gliksohn A, Bennani M, Bodemer C, et al. Burden of albinism: Development and validation of a burden assessment tool. Orphanet J Rare Dis. 2018;13(1):1–8.
Parijat C, Nitesh S, Vinod K, Devesh K, Ruchir T. Retinopathy of prematurity in oculocutaneous albinism. BMC Ophthalmol. 2019;67(1):960–2.
Descargas
Publicado
- Resumen 34
- DESCARGAR PDF 89
