Manifestaciones oculares de la enfermedad de Gaucher: presentación de un caso y revisión del tema

Juan Carlos Mejía-Turizo; Sebastián Rojas-Múnera; Sebastián Reinaldo Orrego-Betancur; Carlos Mario Franco-Echeverri; Kevin Arango-Simoni

doi:10.17533/udea.iatreia.v30n3a05

Authors

Juan Carlos Mejía-Turizo Bolivarian Pontifical University https://orcid.org/0000-0001-6649-411X
Sebastián Rojas-Múnera Bolivarian Pontifical University https://orcid.org/0000-0002-9774-8124
Sebastián Reinaldo Orrego-Betancur Bolivarian Pontifical University https://orcid.org/0000-0002-0288-153X
Carlos Mario Franco-Echeverri Pontificia Bolivariana University https://orcid.org/0000-0002-0487-0252
Kevin Arango-Simoni Pontificia Bolivariana University https://orcid.org/0000-0001-6951-9765

DOI:

https://doi.org/10.17533/udea.iatreia.v30n3a05

Keywords:

fluorescein angiography, Gaucher Disease, mutation, ocular manifestation, ophthalmology, retinal disease, tomography optical coherence

Abstract

We report the case of a patient with Gaucher disease (GD) type 3b, with a homozygous GBA gene mutation (c.1448T > C p.L483P) (L444P). Ocular findings characteristic of this mutation are described, including vitreous condensation and macular edema. To our knowledge this is the first case reported in Colombia with these characteristics. A review of the ocular manifestations of this disease is also presented.

|Abstract

= 1105 veces | PDF (ESPAÑOL (ESPAÑA))

= 216 veces|

Downloads

Download data is not yet available.

Author Biographies

Juan Carlos Mejía-Turizo, Bolivarian Pontifical University

Resident of Ophthalmology Universidad Pontificia Bolivariana, Medellín, Colombia.

Sebastián Rojas-Múnera, Bolivarian Pontifical University

Ophthalmologist of Pontificia Bolivariana University.

Sebastián Reinaldo Orrego-Betancur, Bolivarian Pontifical University

Ophthalmology Resident of Pontificia Bolivariana University.

Carlos Mario Franco-Echeverri, Pontificia Bolivariana University

Ophthalmologist of Pontificia Bolivariana University, Medelin, Colombia.

Kevin Arango-Simoni, Pontificia Bolivariana University

Ophthalmologist, Pontificia Bolivariana University, Medellín, Colombia.

References

(1.) Cogan DG, Chu FC, Gittinger J, Tychsen L. Fundal abnormalities of Gaucher’s disease. Arch Ophthalmol. 1980 Dec;98(12):2202-3.

(2.) Gonzalez Rodriguez MJ, Pintado Conde H, Lopez Nieto C, Capdevila Puerta A, Torres Carrete JP. [Retinal involvement in Gaucher’s disease]. J Fr Ophtalmol. 1992;15(3):185-90. French.

(3.) Shrier EM, Barr CC, Grabowski GA. Vitreous opacities and retinal vascular abnormalities in Gaucher disease. Arch Ophthalmol. 2004 Sep;122(9):1395-8.

(4.) Koga T, Ando E, Hirata A, Fukushima M, Kimura A, Ando Y, et al. Vitreous opacities and outcome of vitreous surgery in patients with familial amyloidotic polyneuropathy. Am J Ophthalmol. 2003 Feb;135(2):188-93.

(5.) Giovannini A, Mariotti C, Scassellati-Sforzolini B, Amato G. Gaucher’s disease associated with choroidal neovascularization. Retina. 2000;20(6):679-81.

(6.) Rapizzi E, Vannozzi L, Borgioli V, Giansanti F, Murro V, Sodi A, et al. Vitrectomy for vitreous opacities and macular pucker in Gaucher disease. Eur J Ophthalmol. 2011 May-Jun;21(3):340-2. DOI 10.5301/EJO.2010.5797.

(7.) Wollstein G, Elstein D, Strassman I, Seelenfreund M, Zylbermann R, Zimran A. Preretinal white dots in adult-type Gaucher disease. Retina. 1999;19(6):570-1.

(8.) Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat. 2008 May;29(5):567-83. DOI 10.1002/humu.20676.

(9.) Sidransky E. Gaucher disease: complexity in a “simple” disorder. Mol Genet Metab. 2004 Sep-Oct;83(1-2):6-15.

(10.) Pastores GM, Hughes DA. Gaucher Disease. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, et al., editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993 [cited 2016 Feb 15]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/

(11.) Elstein D, Abrahamov A, Dweck A, Hadas-Halpern I, Zimran A. Gaucher disease: pediatric concerns. Paediatr Drugs. 2002;4(7):417-26.

(12.) Kahn MF. [From “primitive spleen epithelioma” to Gaucher’s disease. Story of a forerunner]. Rev Med Interne. 2007 Oct;28 Suppl 2:S206-10. French.

(13.) Brady RO, Kanfer JN, Shapiro D. Metabolism of gluco-cerebrosides. II. Evidence Of an enzymatic deficiency in gaucher’s disease. Biochem Biophys Res Commun. 1965 Jan;18:221-5.

(14.) Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haematol. 2005 Apr;129(2):178-88.

(15.) Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008 Oct;372(9645):1263- 71. DOI 10.1016/S0140-6736(08)61522-6.

(16.) Aviner S, Garty BZ, Rachmel A, Baris HN, Sidransky E, Shuffer A, et al. Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare. Blood Cells Mol Dis. 2009 Nov-Dec;43(3):294-7. DOI 10.1016/j.bcmd.2009.08.004.

(17.) Lozano Bernal JE. Enfermedad de Gaucher: Casuística del Tolima. Acta Med Colomb. 2006 Dec;31(4):416–21.

(18.) Berrebi A, Wishnitzer R, Von-der-Walde U. Gaucher’s disease: unexpected diagnosis in three patients over seventy years old. Nouv Rev Fr Hematol. 1984;26(3):201-3.

(19.) Grabowski GA. Gaucher disease and other storage disorders. Hematology Am Soc Hematol Educ Program. 2012;2012:13-8. DOI 10.1182/asheducation-2012.1.13.

(20.) Patterson MC, Horowitz M, Abel RB, Currie JN, Yu KT, Kaneski C, et al. Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher’s disease. Neurology. 1993 Oct;43(10):1993-7.

(21.) Chu FC, Rodrigues MM, Cogan DG, Barranger JA. The pathology of pingueculae in Gaucher’s disease. Ophthalmic Paediatr Genet. 1984 Apr;4(1):7-11.

(22.) Guemes A, Kosmorsky GS, Moodie DS, Clark B, Meisler D, Traboulsi EI. Corneal opacities in Gaucher disease. Am J Ophthalmol. 1998 Dec;126(6):833-5.

(23.) Geens S, Kestelyn P, Claerhout I. Corneal manifestations and in vivo confocal microscopy of Gaucher disease. Cornea. 2013 Jul;32(7):e169-72. DOI 10.1097/ICO.0b013e31828d6d81.

(24.) Salgado-Borges J, Silva-Araújo A, Lemos MM, Sá-Miranda MC, Abreu-Dias P, Tavares MA. Morphological and biochemical assessment of the cornea in a Gaucher disease carrier with keratoconus. Eur J Ophthalmol. 1995 Apr-Jun;5(2):69-74.

(25.) Sheck LH, Wilson CJ, Vincent AL. Analysis of the pre-retinal opacities in Gaucher Disease using spectral domain optical coherent tomography. Ophthalmic Genet. 2012 Dec;33(4):253-6. DOI 10.3109/13816810.2012.716489.

(26.) Bruscolini A, Pirraglia MP, Restivo L, Spinucci G, Abbouda A. A branch retinal artery occlusion in a patient with Gaucher disease. Graefes Arch Clin Exp Ophthalmol. 2012 Mar;250(3):441-4. DOI 10.1007/s00417-011-1745-2.

(27.) McNeill A, Roberti G, Lascaratos G, Hughes D, Mehta A, Garway-Heath DF, et al. Retinal thinning in Gaucher disease patients and carriers: results of a pilot study. Mol Genet Metab. 2013 Jun;109(2):221-3. DOI 10.1016/j.ymgme.2013.04.001.

(28.) Seidova SF, Kotliar K, Foerger F, Klopfer M, Lanzl I. Functional retinal changes in Gaucher disease. Doc Ophthalmol. 2009 Apr;118(2):151-4. DOI 10.1007/s10633-008-9142-9.

(29.) Dweck A, Rozenman J, Ronen S, Zimran A, Elstein D. Uveitis in Gaucher disease. Am J Ophthalmol. 2005 Jul;140(1):146-7.

(30.) Accardo A, Pensiero S, Ciana G, Parentin F, Bembi B. Eye movement impairment recovery in a Gaucher patient treated with miglustat. Neurol Res Int. 2010;2010:358534. DOI 10.1155/2010/358534.

(31.) Tsai LP, Sue WC, Hwu WL, Lin KH, Wang TR. Oculo-motor apraxia in a case of Gaucher’s disease with homozygous T1448C mutation. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1996 Jan-Feb;37(1):52-5.

(32.) Bennett LL, Mohan D. Gaucher disease and its treatment options. Ann Pharmacother. 2013 Sep;47(9):1182-93. DOI 10.1177/1060028013500469.

(33.) Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, et al. Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher’s disease. N Engl J Med. 1991 May;324(21):1464-70.

(34.) Anderson LJ, Henley W, Wyatt KM, Nikolaou V, Hughes DA, Waldek S, et al. Long-term effectiveness of enzyme replacement therapy in adults with Gaucher disease: results from the NCS-LSD cohort study. J Inherit Metab Dis. 2014 Nov;37(6):953-60. DOI 10.1007/s10545-014-9680-0.

(35.) Kaplan P, Baris H, De Meirleir L, Di Rocco M, El-Beshlawy A, Huemer M, et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr. 2013 Apr;172(4):447-58. DOI 10.1007/s00431-012-1771-z.

(36.) Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet. 1991 Oct;49(4):855-9.

(37.) Schiffmann R, Fitzgibbon EJ, Harris C, DeVile C, Davies EH, Abel L, et al. Randomized, controlled trial of miglustat in Gaucher’s disease type 3. Ann Neurol. 2008 Nov;64(5):514-22. DOI 10.1002/ana.21491.

(38.) Futerman AH, Sussman JL, Horowitz M, Silman I, Zi- mran A. New directions in the treatment of Gaucher disease. Trends Pharmacol Sci. 2004 Mar;25(3):147-51.

(39.) Lukina E, Watman N, Arreguin EA, Dragosky M, Iastrebner M, Rosenbaum H, et al. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a pha- se 2 study. Blood. 2010 Nov 18;116(20):4095-8. DOI 10.1182/blood-2010-06-293902.

(40.) Wenstrup RJ, Bailey L, Grabowski GA, Moskovitz J, Oestreich AE, Wu W, et al. Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood. 2004 Sep;104(5):1253-7.

(41.) Samuel R, Katz K, Papapoulos SE, Yosipovitch Z, Zaizov R, Liberman UA. Aminohydroxy propylidene bisphosphonate (APD) treatment improves the clinical skeletal manifestations of Gaucher’s disease. Pediatrics. 1994 Sep;94(3):385-9.

(42.) Cassinerio E, Graziadei G, Poggiali E. Gaucher disease: a diagnostic challenge for internists. Eur J Intern Med. 2014 Feb;25(2):117-24. DOI 10.1016/j.ejim.2013.09.006.

(43.) McEachern KA, Nietupski JB, Chuang WL, Armentano D, Johnson J, Hutto E, et al. AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease. J Gene Med. 2006 Jun;8(6):719-29.

(44.) Parenti G. Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med. 2009 Aug;1(5):268-79. DOI 10.1002/emmm.200900036.

(45.) Wang TJ, Chen MS, Shih YF, Hwu WL, Lai MY. Fundus abnormalities in a patient with type I Gaucher’s

disease with 12-year follow-up. Am J Ophthalmol. 2005 Feb;139(2):359-62.

(46.) vom Dahl S, Niederau C, Häussinger D. Loss of vision in Gaucher’s disease and its reversal by enzyme-replace- ment therapy. N Engl J Med. 1998 May;338(20):1471-2.

(47.) Marti GE, Ryan ET, Papadopoulos NM, Filling-Katz M, Barton N, Fleischer TA, et al. Polyclonal B-cell lymphocytosis and hypergammaglobulinemia in patients with Gaucher disease. Am J Hematol. 1988 Dec;29(4):189-94.

(48.) de Fost M, Out TA, de Wilde FA, Tjin EP, Pals ST, van Oers MH, et al. Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature. Ann Hematol. 2008 Jun;87(6):439-49. DOI 10.1007/s00277-008-0441-8.

(49.) Rosenbloom BE, Weinreb NJ, Zimran A, Kacena KA, Charrow J, Ward E. Gaucher disease and cancer in- cidence: a study from the Gaucher Registry. Blood. 2005 Jun;105(12):4569-72.

(50.) Lee NC, Chien YH, Wong SL, Sheen JM, Tsai FJ, Peng SF, et al. Outcome of early-treated type III Gaucher disease patients. Blood Cells Mol Dis. 2014 Sep;53(3):105-9. DOI 10.1016/j.bcmd.2014.05.007.

(51.) Stone DL, Carey WF, Christodoulou J, Sillence D, Nel- son P, Callahan M, et al. Type 2 Gaucher disease: the collodion baby phenotype revisited. Arch Dis Child Fetal Neonatal Ed. 2000 Mar;82(2):F163-6.

(52.) Souza AM, Muniz TP, Brito RM. Study of enzyme replacement therapy for Gaucher Disease: comparative analysis of clinical and laboratory parameters at diagnosis and after two, five and ten years of treatment. Rev Bras Hematol Hemoter. 2014 Sep- Oct;36(5):345-50. DOI 10.1016/j.bjhh.2014.05.005.