Ocular findings in Fabry disease in Colombian patients
Abstract
Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye.
This case series describes the first ophthalmological Colombian report of Fabry disease highlighting the importance of ocular signs as markers of the disease, useful in diagnosis and treatment to avoid long-term complications that lead to a morbi-mortality increment.
We describe five cases of Fabry disease from Bogotá, Colombia, including a complete clinical history, ophthalmologic, optometric examination, and photographs. We found that all patients had refractive defects and that in all cases corneal verticillata pattern was found.
Four patients presented with posterior capsule lens brown-beige deposits and four patients had conjunctival and retinal tortuous vessels.
A complete ophthalmologic examination is important for prompt diagnosis, which is key to starting a multidisciplinary treatment and reducing morbi-mortality.
Downloads
References
Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. https://doi.org/10.1186/1750-1172-5-30
Sodi A, Ioannidis AS, Mehta A, Davey C, Beck M, Pitz S. Ocular manifestations of Fabry’s disease: Data from the Fabry Outcome Survey. Br J Ophthalmol. 2007;91:210-4. https://doi.org/10.1136/bjo.2006.100602
Nguyen TT, Gin T, Nicholls K, Low M, Galanos J, Crawford A. Ophthalmological manifestations of Fabry disease: A survey of patients at the Royal Melbourne Fabry Disease Treatment Centre. Clin Experiment Ophthalmol. 2005;33:164-8. https://doi.org/10.1111/j.1442-9071.2005.00990.x
Samiy N. Ocular features of Fabry disease: Diagnosis of a treatable life-threatening disorder. Surv Ophthalmol. 2008;53:416-23. https://doi.org/10.1016/j.survophthal.2008.04.005
Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, et al. Fabry Disease Clinical Trial Study Group. Agalsidase-beta therapy for advanced fabry disease: A randomized trial. Ann Intern Med. 2007;146:77-86. https://doi.org/10.7326/0003-4819-146-2-200701160-00148
Pintos-Morell G, Beck M. Fabry disease in children and the effects of enzyme replacement treatment. Eur J Pediatr. 2009;168:1355-63. https://doi.org/10.1007/s00431-009-0937-9
Marci M, Duro G, Tuttolomondo A, Pinto A, Cirrincione V, Sanfilippo N. Delayed diagnosis of Fabry disease presenting as myocardial ischaemia. Hellenic J Cardiol. 2012;53:77-9.
Hirano K, Murata K, Miyagawa A, Terasaki H, Saigusa J, Nagasaka T, et al. Histopathologic findings of cornea verticillata in a woman heterozygous for Fabry’s disease. Cornea. 2001;20:233-6.
Sher NA, Reiff W, Letson RD, Desnick RJ. Central retinal artery occlusion complicating Fabry’s disease. Arch Ophthalmol. 1978;96:815-7. https://doi.org/10.1001/archopht.1978.03910050421003
Hauser AC, Lorenz M, Voigtländer T, Födinger M, Sunder-Plassmann G. Results of an ophthalmologic screening programme for identification of cases with Anderson-Fabry disease. Ophthalmologica. 2004;218:207-9. https://doi.org/10.1159/000076846
Lidove O, Joly D, Barbey F, Bekri S, Alexandra JF, Peigne V, et al. Clinical results of enzyme replacement therapy in Fabry disease: A comprehensive review of literature. Int J Clin Pract. 2007;61:293-302. https://doi.org/10.1111/j.1742-1241.2006.01237.x
Ramaswami U, Parini R, Pintos-Morell G, Kalkum G, Kampmann C, Beck M. Fabry disease in children and response to enzyme replacement therapy: Results from the Fabry Outcome Survey. Clin Genet. 2012;81:485-90. https://doi.org/10.1111/j.1399-0004.2011.01671.x
Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, et al. Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis. 2007;30:184-92. https://doi.org/10.1007/s10545-007-0521-2
Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry’s disease. Arch Ophthalmol. 1979;97:671-6. http://doi.org/10.1001/archopht.1979.01020010327008
Pitz S, Kalkum G, Arash L, Karabul N, Sodi A, Larroque S, et al. Ocular signs correlate well with disease severity and genotype in Fabry disease. PLoS One. 2015;10:e0120814. https://doi.org/10.1371/journal.pone.0120814
D’Amico DJ, Kenyon KR, Ruskin JN. Amiodarone keratopathy: Drug-induced lipid storage disease. Arch Ophthalmol.1981;99:257-61. https://doi.org/10.1001/archopht.1981.03930010259007
Mehta A, Ricci R, Widmer U, Dehout F, García de Lorenzo A, Kampmann C, et al. Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34:236-42. https://doi.org/10.1111/j.1365-2362.2004.01309.x
Orssaud C, Dufier J, Germain D. Ocular manifestations in Fabry disease: A survey of 32 hemizygous male patients. Ophthalmic Genet. 2003;24:129-39.
Sivley MD. Fabry disease: A review of ophthalmic and systemic manifestations. Optom Vis Sci. 2013;90:e63-78. https://doi.org/10.1097/OPX.0b013e31827ec7eb
Some similar items:
- Ana Milena Gómez, Reggie García-Robles, Fernando Suárez-Obando, Estimation of the mucopolysaccharidoses frequencies and cluster analysis in the Colombian provinces of Cundinamarca and Boyacá , Biomedica: Vol. 32 No. 4 (2012)
- Virgilio Galvis, Alejandro Tello, Néstor I. Carreño, Camilo A. Niño, Natalia A. García , Valeria Otoya , Rodrigo Arana, Severe corneal burn due to the accidental application of salicylic acid packed in a plastic dropper bottle , Biomedica: Vol. 40 No. 3 (2020)
| Article metrics | |
|---|---|
| Abstract views | |
| Galley vies | |
| PDF Views | |
| HTML views | |
| Other views | |
