000			02606na a2200253 4500
003			H12O
005			20180417112254.0
008			130622s2011 xxx||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_9818 _aGracia García-Miguel, Teresa _eOftalmología
100			_9428 _aGutiérrez Díaz, Esperanza _eOftalmología
100			_aMencía Gutiérrez, Enrique _91786 _eOftalmología
245	0	0	_aClassical familial homocystinuria in an adult presenting as an isolated lens subluxation _h[artículo]
260			_bInternational Ophthalmology, _c2011
300			_a31(3):227-232.
500			_aFormato Vancouver: Martínez-Gutiérrez JD, Mencía-Gutiérrez E, Gracia-García-Miguel T, Gutiérrez-Díaz E, López-Tizón E. Classical familial homocystinuria in an adult presenting as an isolated lens subluxation. Int Ophthalmol. 2011 Jun;31(3):227-32.
501			_aPMID: 21626167
504			_aContiene 21 referencias
520			_aTo report a case of late diagnosis of a classical familial homocystinuria based on an ophthalmologic examination. A 35-year-old male with Marfan-like phenotype complained of a progressive increase of myopia during the previous 2years. Ophthalmologic exploration showed a bilateral subluxation of the lens with inferior and nasal displacement. Biochemical study detected a profile of increased amino acid levels (homocysteinemia) consistent with suspected homocystinuria. Vascular and skeletal studies ruled out Marfan syndrome. Response to treatment demonstrated B(6)-non-responsive homocystinuria. Molecular study showed compound heterozygous T353N and D444N mutations of the cystathionine beta-synthase (CBS) gene, and also a C667T homozygous mutation of the methylenetetrahydrofolate-reductase (MTHFR) gene. Family study showed classical homocystinuria in his father and sister, although they did not present any systemic or ocular features of the disease. Homocystinuria is a metabolic disease usually presenting at an early age as vascular, skeletal and neuropsychiatric abnormalities, as well as ectopia lentis. Our case is atypical because of the absence of thromboembolism and the mild phenotype, in spite of being B(6)-non-responsive, and the association of a rare compound heterozygous mutation of the CBS gene and also an homozygous mutation of the MTHFR gene. It is necessary to rule out homocystinuria in patients with ectopia lentis, even in the absence of systemic symptoms.
710			_9223 _aServicio de Oftalmología
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/3/pc3195.pdf _ySolicitar documento
942			_n0 _2ddc _cART
999			_c3195 _d3195