Retinosis pigmentaria en pacientes con mucopolisacaridosis II: reporte de dos casos

Sophia Arias; Estefanía Lis Luque; Sofia Inés Aliaga; Carolina Fernanda Pastorello; Pablo Francisco Colom; Emiliano Facundo Ross

doi:10.70313/2718.7446.v18.n4.456

Authors

Sophia Arias Hospital Posadas
Estefanía Lis Luque Hospital Posadas
Sofia Inés Aliaga Hospital Posadas
Carolina Fernanda Pastorello Hospital Posadas
Pablo Francisco Colom Hospital Posadas
Emiliano Facundo Ross Hospital Posadas

DOI:

https://doi.org/10.70313/2718.7446.v18.n4.456

Keywords:

mucopolysaccharidosis ii, retinitis pigmentosa, retinal dystrophies, lysosomal storage diseases

Abstract

Purpose: To highlight the importance of regular ophthalmologic follow-up in patients diagnosed with mucopolysaccharidosis type II (MPS II) for the early detection of associated ocular conditions, particularly retinitis pigmentosa (RP), through the description of two clinical cases.

Case report: MPS II is a lysosomal storage disorder caused by mutations in the IDS gene (Xq28), inherited in an X-linked manner, leading to iduronate-2-sulfatase deficiency and accumulation of glycosaminoglycans in multiple organs. Ocular manifestations may include corneal opacities, macular dysfunction, optic neuropathy, and retinal pigmentary changes. RP represents a heterogeneous group of inherited dystrophies characterized by progressive photoreceptor degeneration, resulting in visual field constriction and macular involvement at advanced stages.

Our two MPS II patients presented with decreased visual acuity. Fundus examination and electrophysiological studies revealed findings consistent with RP, confirming the coexistence of both conditions.

Conclusion: Regular ophthalmologic evaluation in patients with MPS II is essential for the early detection of retinal complications such as RP, allowing an interdisciplinary approach and proper follow-up to help preserve visual function and improve quality of life.

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Author Biographies

Sophia Arias , Hospital Posadas

Hospital Nacional Profesor Alejandro Posadas. El Palomar, Buenos Aires, Argentina
Estefanía Lis Luque , Hospital Posadas

Hospital Nacional Profesor Alejandro Posadas. El Palomar, Buenos Aires, Argentina.
Sofia Inés Aliaga , Hospital Posadas

Hospital Nacional Profesor Alejandro Posadas. El Palomar, Buenos Aires, Argentina.
Carolina Fernanda Pastorello , Hospital Posadas

Hospital Nacional Profesor Alejandro Posadas. El Palomar, Buenos Aires, Argentina.
Pablo Francisco Colom , Hospital Posadas

Hospital Nacional Profesor Alejandro Posadas. El Palomar, Buenos Aires, Argentina.
Emiliano Facundo Ross , Hospital Posadas

Hospital Nacional Profesor Alejandro Posadas. El Palomar, Buenos Aires, Argentina.

References

1. D’Avanzo F, Rigon L, Zanetti A, Tomanin R. Mucopolysaccharidosis type II: one hundred years of research, diagnosis, and treatment. Int J Mol Sci 2020; 21(4): 1258. doi: 10.3390/ijms21041258.

2. Collins ML, Traboulsi EI, Maumenee IH. Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses. Ophthalmology 1990; 97(11): 1445-1449. doi: 10.1016/s0161-6420(90)32400-4.

3. François J. Ocular manifestations of the mucopolysaccharidoses. Ophthalmologica 1974; 169(5): 345-361. doi: 10.1159/000307137.

4. Suzuki Y, Aoyama A, Kato T, Shimozawa N, Orii T. Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotype. J Inherit Metab Dis 2009; 32(4): 582-583. doi: 10.1007/s10545-009-1204-y.

5. Olivieri C, Ricardi F, Coletto A, Marica V, Serafino S, Marolo P, Reibaldi M, Borrelli E. Mucopolysaccharidosis type II B complicated by optic disc swelling, pigmentary retinopathy and macular edema. Eur J Ophthalmol 2024; 34(5): NP72-NP77. doi: 10.1177/11206721241257967.

6. Janáky M, Pálffy A, Horváth G, Tuboly G, Benedek G. Pattern-reversal electroretinograms and visual evoked potentials in retinitis pigmentosa. Doc Ophthalmol 2008; 117(1): 27-36. doi: 10.1007/s10633-007-9099-0.

7. Suárez-Guerrero JL, Gómez Higuera PJ, Arias Flórez JS, Contreras-García GA. Mucopolisacaridosis: características clínicas, diagnóstico y de manejo. Rev Chil Pediatr 2016; 87(4): 295-304. Spanish. doi: 10.1016/j.rchipe.2015.10.004.

8. Salvucci IDM, Finzi S, Oyamada MK, Kim CA, Pimentel SLG. Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): case report. Ophthalmic Genet 2018; 39(1): 103-107. doi: 10.1080/13816810.2017.1354383.

9. Young ID, Harper PS. Mild form of Hunter’s syndrome: clinical delineation based on 31 cases. Arch Dis Child 1982; 57(11): 828-836. doi: 10.1136/adc.57.11.828.

10. Kowalski T, Ruddle JB, de Jong G, Mack HG. Expanding the phenotype of mucopolysaccharidosis type II retinopathy. Ophthalmic Genet 2021; 42(5): 631-636. doi: 10.1080/13816810.2021.1938141.

11. Majmudar IP, Ismail HO, Dang S, Gill MK. Posterior segment findings in Hunter syndrome: case report and review. Am J Ophthalmol Case Rep 2024; 36: 102189. doi: 10.1016/j.ajoc.2024.102189.

12. Yoon MK, Chen RW, Hedges TR 3rd, Srinivasan VJ, Gorczynska I, Fujimoto JG, Wojtkowski M, Schuman JS, Duker JS. High-speed, ultrahigh resolution optical coherence tomography of the retina in Hunter syndrome. Ophthalmic Surg Lasers Imaging 2007; 38(5): 423-428. doi: 10.3928/15428877-20070901-14.

13. Salvucci IDM, Finzi S, Oyamada MK, Kim CA, Pimentel SLG. Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): case report. Ophthalmic Genet 2018; 39(1): 103-107. doi: 10.1080/13816810.2017.1354383.