Literature DB >> 3925862

Retinal involvement in Morquio's syndrome (MPS IV).

M E Dangel, B H Tsou.   

Abstract

Prior to this report, pigmentary degeneration of the retina had been described in four of the six types of mucopolysaccharidosis (MPS). However, it had not been described in Morquio's syndrome. To the authors' knowledge, the case presented represents the first patient with Morquio's syndrome demonstrating ophthalmoscopic and electrophysiologic abnormalities. The patient demonstrated arteriolar narrowing, as well as an increased photopic b-wave implicit time, decreased scotopic b-wave amplitude, and a slightly abnormal electro-oculogram (EOG). At 43 years of age, this patient represents the oldest individual with Morquio's syndrome tested electrophysiologically. It is proposed that the retinal involvement in the disease is mild but progressive and therefore perhaps is not seen in younger patients but becomes apparent in older persons with Morquio's syndrome.

Entities:  

Mesh:

Year:  1985        PMID: 3925862

Source DB:  PubMed          Journal:  Ann Ophthalmol        ISSN: 0003-4886


  7 in total

1.  Morquio syndrome: electron microscopic findings.

Authors:  T Leslie; M A R Siddiqui; D A Aitken; C M Kirkness; W R Lee; A I Fern
Journal:  Br J Ophthalmol       Date:  2005-07       Impact factor: 4.638

2.  Glaucoma in siblings with Morquio syndrome.

Authors:  M Cahane; G Treister; F A Abraham; S Melamed
Journal:  Br J Ophthalmol       Date:  1990-06       Impact factor: 4.638

3.  Spectral domain optical coherence tomography imaging of mucopolysaccharidoses I, II, and VI A.

Authors:  Susie Seok; In Jeong Lyu; Kyung Ah Park; Sei Yeul Oh
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2015-02-18       Impact factor: 3.117

Review 4.  Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review.

Authors:  H Northover; R A Cowie; J E Wraith
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 5.  Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.

Authors:  Christian J Hendriksz; Maisoon Al-Jawad; Kenneth I Berger; Sara M Hawley; Rebecca Lawrence; Ciarán Mc Ardle; C Gail Summers; Elizabeth Wright; Elizabeth Braunlin
Journal:  J Inherit Metab Dis       Date:  2012-02-23       Impact factor: 4.982

Review 6.  International guidelines for the management and treatment of Morquio A syndrome.

Authors:  Christian J Hendriksz; Kenneth I Berger; Roberto Giugliani; Paul Harmatz; Christoph Kampmann; William G Mackenzie; Julian Raiman; Martha Solano Villarreal; Ravi Savarirayan
Journal:  Am J Med Genet A       Date:  2014-10-24       Impact factor: 2.802

7.  Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses.

Authors:  Hsiang-Yu Lin; Wei-Chun Chan; Lee-Jen Chen; Yuan-Chieh Lee; Shu-I Yeh; Dau-Ming Niu; Pao Chin Chiu; Wen-Hui Tsai; Wuh-Liang Hwu; Chih-Kuang Chuang; Shuan-Pei Lin
Journal:  Mol Genet Genomic Med       Date:  2019-03-08       Impact factor: 2.183

  7 in total

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