Hipoplasia foveal relacionada ao albinismo

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Francisca Cácia Pereira Fernandes
Maria Lindomar Soares Gomes Silva
Wermerson Assunção Barroso
Reinaldo Izidório dos Santos Filho

Resumo

Objetivo: Realizar um levantamento bibliográfico sobre as alterações oculares que ocorrem na hipoplasia foveal em pacientes albinos. Métodos: Trata-se de uma revisão integrativa da literatura, onde os artigos foram extraídos das bases de dados da SCIELO, PUBMED e SCIENCE DIRECT no período de agosto a setembro de 2023. Como critérios de inclusão para a busca das produções científicas foram artigos disponíveis na íntegra, online e de livre acesso, em português e inglês, que remetam a associação entre hipoplasia foveal ou hipoplasia do nervo óptico com albinismo publicados nos últimos cinco anos. Resultados: Os resultados desta pesquisa foram construídos por meio da análise e interpretação de 12 artigos científicos nesse seguimento. Assim, o albinismo é comumente associado à hipoplasia foveal, onde há falha total ou parcial na formação e especialização da fossa foveal. A gravidade da hipoplasia foveal varia e a detecção pode ser melhorada. Consideraciones finales: Logo, foi possível verificar que a hipoplasia foveal está constantemente presente, e os indivíduos com albinismo geralmente apresentam atraso no desenvolvimento visual, visão reduzida, nistagmo, estrabismo, transiluminação da íris e ausência ou redução do pigmento melanina no fundo.

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Como Citar
FernandesF. C. P., SilvaM. L. S. G., BarrosoW. A., & Santos FilhoR. I. dos. (2024). Hipoplasia foveal relacionada ao albinismo. Revista Eletrônica Acervo Saúde, 24(2), e15150. https://doi.org/10.25248/reas.e15150.2024
Seção
Revisão Bibliográfica

Referências

1. AHMADI K, et al. Altered organization of the visual cortex in FHONDA syndrome. NeuroImage. 2019; 190:224–231.

2. ALSAKRAN WA, et al. Retinal vasoproliferative tumor in ocular albinism. AM J Case Rep. 2020; 21:e9259261-e9259264.

3. AYDIN R, et al. Foveal hypoplasia in a patient with achromatopsia. J Fr Ophtalmol. 2018; 41:211-214.

4. BOWMAN SL. The road to lysosome-related organelles: From Hermansky-Pudlak syndrome and other rare 5iseases. Traffic. 2019; 20(6):404–435.

6. 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.

7. CAMPBELL P, et al. Clinical and genetic variability in children with partial albinism. Sci Rep. 2019; 9:16576.

8. CERQUEIRA ACDR, et al. Revisão integrativa da literatura: sono em lactentes que frequentam creche. Rev. Bras Enferm. 2018; 71(2):424-430.

9. EHRENBERG M.et al. Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism. Ophthalmic Genetics. 2021; 42(3): 243–251.

10. 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.

11. 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.

12. GIL AC. Como elaborar projetos de pesquisa. 4 ed. São Paulo: Atlas, 2009; 175 p.

13. HELEN J, et al. Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. Ophthalmology. 2022; 129(6):708-718.

14. 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.

15. KAVALARAKI A, et al. Foveal hypoplasia in a child with tyrosinase – positive albinism. Cureus. 2023; 15(9)e44558.

16. 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.

17. KONDO H. Foveal hypoplasia and optical coherence tomographic imaging. Taiwan J Ophthalmol. 2018; 8(4):181-188.

18. KRUIJT CC, et al. The phenotypic spectrum of albinism. American Academy of Ophthalmology. 2018; 125:1953-1960.

19. KUHT HJ et al. Abnormal foveal morphologt in carriers of oculocutaneous albinism. Br J Ophthalmol. 2023; 107(8):1202-1208.

20. KUHT HJ, et al. Genotypic and phenotypic spectrum of foveal hypoplasia: a multi-centre study. Ophthalmology. 2022; 129(6):708-718.

21. KUMAR K, et al. Variable clinical profile of foveal hypoplasia in albinism. Indian Journal of Ophtalmology. 2020; 68(4):649-651.

22. KURENT A, et al. Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism. Eur J Ophthalmol. 2020; 30(1):147-154.

23. LEJOYEUX A, et al. Foveal hypoplasia in parents of patients with albinism. Ophthalmic Genetics. 2022; 43(6):817-823.

24. 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.

25. MANSOUR HA, et al. Foveal avascular zone in oculocutaneous albinism. BMJ Case Rep. 2021; 14(50): e240208.

26. MAO X, et al. Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia. BMC Ophyhalmol. 2021; 21: 156.

27. MATSUSHITA I, et al. Foveal hypoplasia in patients with stickler syndrome. Ophthalmology. 2017; 124:896-902.

28. MATSUSHITA I, et al. Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations. Jpn J Ophthalmol. 2020; 64(6):635-641.

29. 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.

30. LIU S, et al. Current and emerging treatments for albinism. Survey of Ophthalmology. 2021; 66(2):362-377.

31. PENNAMEN P, et al. Dopachrome tautomerase variants in patients with oculocutaneous albinism. Genet. Med. 2021; 23:479–487.

32. RUFAI SR, et al. Handheld Optical coherence tomography in a Young infant with albinism and fóvea plana. J Neuroophthalmol. 2021; 41(2):200-201.

33. 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.

34. SIVALINGAM MD, et al. Amelanotic ciliochoroidal melanoma in a patient with oculocutaneous albinism. Ocul Oncol Pathol. 2018; 5(3):182-185.

35. 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.

36. TORAL MA, et al. Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia. Mol Genet Genomic Med. 2017; 5:202–209.

37. TSANG SH, SHARMA T. X-linked Ocular Albinism. Tissue Eng. 2018; 1085:49–52.

38. VOSGERAU DSAR, ROMANOWSKI JP. Estudos de revisão: implicações conceituais e metodológicas. Revista de Diálogo Educacional. 2014; 14(41):165-189.

39. WEINER C, et al. The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus. Experimental Eye Research. 2020; 193: 107958.