2014, Number 1
<< Back Next >>
Rev Cub Oftal 2014; 27 (1)
Schnyder crystalline dystrophy
Guerra AM, Cambas AAA, de Prada SC, Parapar TSI, Averoft L, Lora DK
Language: Spanish
References: 18
Page:
PDF size: 87.54 Kb.
ABSTRACT
Central crystalline dystrophy known as Schnyder´s dystrophy, called like this because
he was the first one to describe it in 1927 in Switzerland, is the main inherited entity
with liquid deposits in the corneal stroma. This disease is characterized by white-yellow
deposits into the central and superficial corneal stroma. A 28 years old black male
patient, with previous history of health problems, went to the doctor´s office and
mentioned visual reduction and progressive coloring changes in both eyes that had
lasted some years. Ophthalmologic examination of both eyes showed annular white
lesions at the corneal stroma, with light central corneal haze. Simple hypermetropic
astigmatism was detected in the refractive exams. The rest of ophthalmologic exams
was negative. For more secure diagnosis, confocal microscope was used. It was
concluded that the patient had stromal corneal dystrophy, or Schnyder´s crystalline
dystrophy.
REFERENCES
Martí Huguet T. Distrofias corneales. Barcelona: Cusí S.A.; 1996.
Eguía Martínez F, Ríos Torres M, Capote Cabrera A. Manual de diagnóstico y tratamiento en oftalmología. La Habana: Editorial Ciencias Médicas; 2009.
Orphanet. Portal de Información de enfermedades raras y medicamentos huérfanos. Distrofia corneal cristalina de Schnyder [Internet]. 2013 [citado 21 de octubre de 2013]. Disponible en: http://www.orpha.net/consor/cgibin/ OC_Exp.php?lng=ES&Expert=98967
Barraquer RI, Toledo MC, Torres E. Distrofia y degeneraciones corneales. Atlas y texto. Barcelona: Espaxs S.A.; 2004.
Weiss JS, Kruth HS, Kuvaniemi H, Tromp G, White PS, Winters RS, et al. Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. Invest Ophthalmol Vis Sci.2007;48(11):500-712.
Nickerson ML, Kostiha BN, Brandt W, Fredericks W, Xu KP, Yu FS, et al. UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. PLoS One [Internet]. 2010 [citado 12 enero de 2012];5(5):[aprox 42 p.]. Disponible en:http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0010760
Jing Y, Liu C, Xu J, Wang L. A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. Mol Vis. 2009;15:1463-9.
Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, et al. Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. Am J Med Genet A. 2008;146(3):271-83.
Yellore VS, Khan MA, Bourla N, Rayner SA, Chen MC, Sonmez B, et al. Identification of mutations in UBIAD1following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. Mol Vis. 2007;13:1777-82.
Kobayashi A, Fujiki K, Murakami A, Sugiyama K. In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy. Ophthalmology. 2009;116(6):1029-37.
Weiss JS. Visual morbidity in thirty-four families with schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc. 2007;105:616-48.
Weiss JS, Moller HU, Lisch W, Kinoshita S, Aldave AJ, Belin MW, et al. La clasificación IC3D de las distrofias corneales. Córnea. 2008;27(Suppl. 2):43-83.
Du C, Li Y, Dai L, Gong L, Han C. A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy. Mol Vis. 2011;17:2685-92.
Al-Ghadeer H, Mohamed JY, Khan AO. Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation. Middle East: Afr J Ophthalmol. 2011;18(1):614.
Krachmer JH, Mannis MJ, Holland EJ. Cornea. Philadelphia: Elsevier Mosby; 2005.
Lu LW. Distrofia estromal cristalina hereditaria de Schnyder. Rev Cibern Oftalmol. 2008:[aprox 5 p.]. Disponible en: http://www.oftalmologia.org/rco/index.php?option=com_content&view=article&id =234:distrofia-estromal-cristalina-hereditaria-de-schntder-eduardo-perez-salvadormd& catid=17:cornea&Itemid=36
Weiss JS, Khemichian AJ. Differential diagnosis of Schnyder corneal dystrophy. Dev Ophthalmol. 2011;48:67-96.
Cárdenas T, Capote A, Benítez MC, Castillo AC. Otras técnicas de cirugía corneal con el empleo de láser de excimer. II Taller de la Cátedra de Córnea y Cirugía Refractiva. I Jornada de la sección de cirugía refractiva, córnea y catarata de la Sociedad Cubana de Oftalmología; 2010.