Resumen
Objetivo: Realizar un levantamiento bibliográfico sobre los cambios oculares que se presentan en la hipoplasia foveal en pacientes albinos. Métodos: Se trata de una revisión integradora de la literatura, donde se extrajeron artículos de las bases de datos SCIELO, PUBMED y SCIENCE DIRECT en el período de agosto a septiembre de 2023. Los criterios de inclusión para la búsqueda de producciones científicas fueron artículos disponibles completos, en línea y de libre acceso, en portugués e inglés, que hacen referencia a la asociación entre hipoplasia foveal o hipoplasia del nervio óptico con albinismo publicados en los últimos cinco años. Resultados: Los resultados de esta investigación se construyeron a través del análisis e interpretación de 12 artículos científicos de este segmento. Así, el albinismo se asocia comúnmente con hipoplasia foveal, donde hay un fallo total o parcial en la formación y especialización de la foveal. La gravedad de la hipoplasia foveal varía y la detección se puede mejorar. Conclusión: Por lo tanto, se pudo verificar que la hipoplasia foveal está constantemente presente, y los individuos con albinismo generalmente presentan retraso en el desarrollo visual, visión reducida, nistagmo, estrabismo, transiluminación del iris y ausencia o reducción del pigmento melanina en el fondo de ojo.
Referencias
AHMADI K, et al. Altered organization of the visual cortex in FHONDA syndrome. NeuroImage. 2019; 190:224–231.
ALSAKRAN WA, et al. Retinal vasoproliferative tumor in ocular albinism. AM J Case Rep. 2020; 21:e9259261-e9259264.
AYDIN R, et al. Foveal hypoplasia in a patient with achromatopsia. J Fr Ophtalmol. 2018; 41:211-214.
BOWMAN SL. The road to lysosome-related organelles: From Hermansky-Pudlak syndrome and other rare 5iseases. Traffic. 2019; 20(6):404–435.
BRUCHER VC, et al. Distribution of macular ganglion cell layer thickness in foveal hypoplasia: A new diagnostic criterion for ocular albinism. PLoS One. 2019; 149(11)e0224410.
CAMPBELL P, et al. Clinical and genetic variability in children with partial albinism. Sci Rep. 2019; 9:16576.
CERQUEIRA ACDR, et al. Revisão integrativa da literatura: sono em lactentes que frequentam creche. Rev. Bras Enferm. 2018; 71(2):424-430.
EHRENBERG M.et al. Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism. Ophthalmic Genetics. 2021; 42(3): 243–251.
GALE MJ, et al. Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa syndrome. Am J Ophthalmol Case Rep. 2018; 10:244-248.
GARRIDO G, et al. HPS11 and OCA8: Two new types of albinism associated with mutations in BLOC1S5 and DCT genes. Pigment Cell & Melanoma Research. 2021; 34(1):10–12.
GIL AC. Como elaborar projetos de pesquisa. 4 ed. São Paulo: Atlas, 2009; 175 p.
HELEN J, et al. Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. Ophthalmology. 2022; 129(6):708-718.
JIN J, et al. Comparison of OCT imaging in children with foveal hypoplasia born full term versus preterm. Graefes Arch Clin Exp Ophthalmol. 2022; 260(9):3075-3085.
KAVALARAKI A, et al. Foveal hypoplasia in a child with tyrosinase – positive albinism. Cureus. 2023; 15(9)e44558.
KIRCHNER I, et al. A series of five patients with foveal hypoplasia demonstrating good visual acuity. Retinal Cases & Brief Reports. 2019; 13(4):376-380.
KONDO H. Foveal hypoplasia and optical coherence tomographic imaging. Taiwan J Ophthalmol. 2018; 8(4):181-188.
KRUIJT CC, et al. The phenotypic spectrum of albinism. American Academy of Ophthalmology. 2018; 125:1953-1960.
KUHT HJ et al. Abnormal foveal morphologt in carriers of oculocutaneous albinism. Br J Ophthalmol. 2023; 107(8):1202-1208.
KUHT HJ, et al. Genotypic and phenotypic spectrum of foveal hypoplasia: a multi-centre study. Ophthalmology. 2022; 129(6):708-718.
KUMAR K, et al. Variable clinical profile of foveal hypoplasia in albinism. Indian Journal of Ophtalmology. 2020; 68(4):649-651.
KURENT A, et al. Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism. Eur J Ophthalmol. 2020; 30(1):147-154.
LEJOYEUX A, et al. Foveal hypoplasia in parents of patients with albinism. Ophthalmic Genetics. 2022; 43(6):817-823.
LEPORE D, et al. Follow-up to age 4 years of treatment of type 1 retinopathy of prematurity intravitreal bevacizumab injection versus laser: fluorescein angiographic findings. Ophthalmology. 2018; 125:218–26.
MANSOUR HA, et al. Foveal avascular zone in oculocutaneous albinism. BMJ Case Rep. 2021; 14(50): e240208.
MAO X, et al. Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia. BMC Ophyhalmol. 2021; 21: 156.
MATSUSHITA I, et al. Foveal hypoplasia in patients with stickler syndrome. Ophthalmology. 2017; 124:896-902.
MATSUSHITA I, et al. Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations. Jpn J Ophthalmol. 2020; 64(6):635-641.
MIKI A, et al The size of the foveal avascular zone is associated with foveal thickness and structure in premature children. J Ophthalmol. 2019: 8340729.
LIU S, et al. Current and emerging treatments for albinism. Survey of Ophthalmology. 2021; 66(2):362-377.
PENNAMEN P, et al. Dopachrome tautomerase variants in patients with oculocutaneous albinism. Genet. Med. 2021; 23:479–487.
RUFAI SR, et al. Handheld Optical coherence tomography in a Young infant with albinism and fóvea plana. J Neuroophthalmol. 2021; 41(2):200-201.
RUFAI SR, et al. Can structural grading of foveal hypoplasia predict future vision in infantile nystagmus? A longitudinal study Ophthalmology. 2020; 127:492-500, 2020.
SIVALINGAM MD, et al. Amelanotic ciliochoroidal melanoma in a patient with oculocutaneous albinism. Ocul Oncol Pathol. 2018; 5(3):182-185.
TAKAGI M, et al. Foveal abnormalities determined by optical coherence tomography angiography in children with history of retinopathy of prematurity. Eye (Lond). 2019; 33(12):1890-1896.
TORAL MA, et al. Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia. Mol Genet Genomic Med. 2017; 5:202–209.
TSANG SH, SHARMA T. X-linked Ocular Albinism. Tissue Eng. 2018; 1085:49–52.
VOSGERAU DSAR, ROMANOWSKI JP. Estudos de revisão: implicações conceituais e metodológicas. Revista de Diálogo Educacional. 2014; 14(41):165-189.
WEINER C, et al. The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus. Experimental Eye Research. 2020; 193: 107958.
