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Abstract
Introduction. L’albinisme oculo‑cutané (AOC) est une maladie génétique rare responsable d’anomalies visuelles congénitales, dont les vices de réfraction non corrigés aggravent la déficience. Au Sénégal, peu de données existent sur cette population. Notre étude décrit les amétropies non corrigées chez les enfants atteints d’AOC suivis à l’Association pour le Bien‑Être de l’Albinos (ALBA). Méthodes. Cette étude transversale descriptive a inclus tous les enfants âgés de 5 à 18 ans atteints d’AOC ayant bénéficié d’un examen ophtalmologique complet avec réfraction sous cycloplégie. Les variables recueillies étaient l’âge, le sexe, l’acuité visuelle, les signes cliniques associés (nystagmus, photophobie, hypoplasie fovéolaire) et les vices de réfraction (myopie, hypermétropie, astigmatisme). L’analyse était descriptive. Résultats. Quarante‑deux enfants ont été inclus (âge moyen 10,2 ± 4,1 ans ; sex‑ratio 1,21 en faveur des garçons). Tous présentaient une baisse d’acuité visuelle bilatérale. Le nystagmus touchait 85,7 % des enfants, la photophobie 81,0 % et l’hypoplasie fovéolaire 100 %. Les vices de réfraction étaient présents chez tous les patients, dominés par l’astigmatisme (50,0 %), puis la myopie (30,9 %) et l’hypermétropie (19,1 %). L’enfant ne portait pas de correction adaptée dans 88,1 % des cas : 59,5 % n’avaient aucune correction et 28,6 % une correction inadaptée. Conclusion. Les vices de réfraction non corrigés sont quasi constants chez l’enfant atteint d’AOC à Libreville, avec une nette prédominance de l’astigmatisme. La correction optique est très insuffisante. Un dépistage précoce et une prise en charge réfractive adaptée peuvent améliorer la fonction visuelle et la qualité de vie de ces enfants.
ABSTRACT
Introduction. Oculocutaneous albinism (OCA) is a rare genetic disorder causing congenital visual abnormalities, and uncorrected refractive errors worsen the visual impairment. In Senegal, data on this population are scarce. Our study describes uncorrected refractive errors in children with OCA followed at the Association for the Well‑being of Albinos (ALBA). Methods. This cross‑sectional descriptive study included all children aged 5 to 18 years with OCA who underwent a complete ophthalmological examination including cycloplegic refraction. Variables collected were age, sex, visual acuity, associated clinical signs (nystagmus, photophobia, foveal hypoplasia), and refractive errors (myopia, hyperopia, astigmatism). Descriptive analysis was performed. Results. Forty‑two children were included (mean age 10.2 ± 4.1 years; male‑to‑female ratio 1.21). All had bilateral visual acuity reduction. Nystagmus occurred in 85.7%, photophobia in 81.0%, and foveal hypoplasia in 100%. Refractive errors were present in all patients, dominated by astigmatism (50.0%), followed by myopia (30.9%) and hyperopia (19.1%). No adequate optical correction was worn in 88.1% of cases: 59.5% had no correction and 28.6% had inappropriate correction. Conclusion. Uncorrected refractive errors are almost constant in children with OCA in Libreville, with a clear predominance of astigmatism. Optical correction is highly insufficient. Early screening and appropriate refractive management can improve visual function and quality of life in these children.
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References
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- 2. Kruijt CC, et al. The phenotypic spectrum of albinism. Ophthalmology. 2018; 125 (12):1953–1960.
- 3. Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007; 2:43.
- 4. Naidoo KS, et al. Refractive error and visual impairment in African children. Invest Ophthalmol Vis Sci. 2003; 44(9):3764–3770.
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- 12. Read SA, Collins MJ, Carney LG. Astigmatism and ocular shape. Optom Vis Sci. 2007;84 (5):343–349.
- 13. Mutti DO, et al. Axial growth and refractive error. Optom Vis Sci. 2005;82(1):44–52.
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- 19. Mohammad S, Gottlob I. The clinical features of albinism. Curr Opin Ophthalmol. 2012;23(5):411–416.
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References
1. Summers CG. Vision in albinism. Trans Am Ophthalmol Soc. 1996; 94:1095–155.
2. Kruijt CC, et al. The phenotypic spectrum of albinism. Ophthalmology. 2018; 125 (12):1953–1960.
3. Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007; 2:43.
4. Naidoo KS, et al. Refractive error and visual impairment in African children. Invest Ophthalmol Vis Sci. 2003; 44(9):3764–3770.
5. Wang J, et al. Refractive errors in albinism: a systematic review. Surv Ophthalmol. 2019; 64(6):779–788.
6. Resnikoff S, et al. Global magnitude of visual impairment. Bull World Health Organ. 2004; 82(11):844–851.
7. Hoffmann MB, et al. Visual pathways in albinism. Prog Retin Eye Res. 2007; 26(6):653–672.
8. McAllister JT, Dubis AM, Carroll J. Foveal development and albinism. Eye. 2010; 24 (3):460–468.
9. Abadi RV, Bjerre A. Motor and sensory characteristics of infantile nystagmus. Br J Ophthalmol. 2002; 86 (10):1152–1160.
10. Kinnear PE, et al. Albinism. Surv Ophthalmol. 1985; 30 (2):75–101.
11. Wildsoet CF, et al. Astigmatism and ocular development. Vision Res. 2019; 156:25–36.
12. Read SA, Collins MJ, Carney LG. Astigmatism and ocular shape. Optom Vis Sci. 2007;84 (5):343–349.
13. Mutti DO, et al. Axial growth and refractive error. Optom Vis Sci. 2005;82(1):44–52.
14. Donahue SP, et al. Guidelines for pediatric refractive correction. Ophthalmology. 2003; 110(4):748–753.
15. Ovenseri-Ogbomo GO, Assien R. Refractive error in children in developing countries. Clin Optom. 2010;2:1–9.
16. Perez-Carpinell J, et al. Filters and visual performance. Ophthalmic Physiol Opt. 2006;26 (4):314–322.
17. Taylor D. Paediatric ophthalmology. 3rd ed. Oxford: Blackwell; 2012.
18. Thomas MG, et al. Structural grading of foveal hypoplasia using OCT. Ophthalmology. 2011;118 (8):1653–1660.
19. Mohammad S, Gottlob I. The clinical features of albinism. Curr Opin Ophthalmol. 2012;23(5):411–416.
20. Lee H, et al. Optical coherence tomography in albinism. Br J Ophthalmol. 2013;97(8):1021–1026.
