Coats-like retinopathy in an infant with preclinical facioscapulohumeral dystrophy

Journal of AAPOS

Volumn 16, Issue 2, 2012, Pages 204-206

  Ganesh, Anuradha ^a   Kaliki, Swathi ^a   Shields, Carol L ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BEVACIZUMAB;

CASE REPORT; CONGENITAL DEAFNESS; CRYOTHERAPY; EXUDATIVE RETINITIS; EYE FUNDUS; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; INFANT; LASER COAGULATION; PRIORITY JOURNAL; RETINA DETACHMENT; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA MACULA EDEMA; RETINAL TELANGIECTASIA; RETINOPATHY; REVIEW; VISUAL ACUITY;

EID: 84860136936     PISSN: 10918531     EISSN: 15283933     Source Type: Journal    
DOI: 10.1016/j.jaapos.2011.11.005     Document Type: Article

References (10)

1. J.A. Shields, C.L. Shields, and S.G. Honavar Classification and management of Coats disease: the 2000 Proctor Lecture Am J Ophthalmol 131 2001 572 583 (Pubitemid 32422113)
2. G.W. Padberg, O.F. Brouwer, and R.J. de Keizer On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy Muscle Nerve 2 1995 S73 S80
3. J.T. Kissel Facioscapulohumeral dystrophy Semin Neurol 19 1999 35 43 (Pubitemid 29244830)
4. M.F. Goldberg, and P.H. Custis Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome) Ophthalmology 100 1993 1645 1654 (Pubitemid 23335928)
5. A.I. Den Hollander, J.R. Heckenlively, and L.I. van den Born Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene Am J Hum Genet 69 2001 198 203 (Pubitemid 32614031)
6. J.M. Robitaille, B. Zheng, and K. Wallace The role of Frizzled-4 mutations in familial exudative vitreoreitnopathy and Coats disease Br J Ophthalmol 95 2011 574 579
7. C.L. Shields, J. Zahler, and N. Falk Neovascular glaucoma from advanced Coats disease as the initial manifestation of facioscapulohumeral dystrophy in a 2-year-old child Arch Ophthalmol 125 2007 840 842 (Pubitemid 46919751)
8. P.W. Lunt, P.E. JArdine, and M.C. Koch Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral dystrophy (FSHD) Hum Mol Genet 4 1995 951 958
9. G.C. Black, R. Perveen, and R. Bonshek Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis Hum Mol Genet 8 1999 2031 2035 (Pubitemid 29458730)
10. R. Fitzsimons Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt? Neuromuscul Disord 21 2011 263 271