Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation

Ophthalmic Genetics

Volumn 32, Issue 2, 2011, Pages 114-117

  Vaclavik, V ^a,c   Schorderet, D F ^a,b   Borruat, F X ^a   Munier, F L ^a,b  

^a JULES GONIN EYE HOSPITAL   (Switzerland)

^b Institute for Research in Ophthalmology IRO   (Switzerland)

^c HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

Author keywords

HMX1; oculo auricular syndrome; rod cone dystrophy

Indexed keywords

ARTICLE; CASE REPORT; CATARACT; CHILD; COLOBOMA; ELECTRORETINOGRAM; GENE; GENE MUTATION; GOLDENHAR SYNDROME; HMX1 GENE; HUMAN; MALE; OPHTHALMOSCOPY; PERIMETRY; PRIORITY JOURNAL; RETINA DYSTROPHY;

AGED; CHILD; EAR, EXTERNAL; ELECTRORETINOGRAPHY; EYE ABNORMALITIES; FLUORESCEIN ANGIOGRAPHY; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; PHOTORECEPTOR CELLS, VERTEBRATE; RETINAL DYSTROPHIES; RETROSPECTIVE STUDIES; SYNDROME; TOMOGRAPHY, OPTICAL COHERENCE; TRANSCRIPTION FACTORS; VISUAL ACUITY; VISUAL FIELDS;

EID: 79955876174     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2011.562955     Document Type: Article

References (6)

1. Yoshiura K, Leysens NJ, Reiter RS, Murray JC. Cloning, characterization, and mapping of the mouse homeobox gene Hmx1. Genomics 1998;50:61-68. (Pubitemid 28280881)
2. Schorderet DF, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, Raji B, Houssaye G, Abitbol MM, Munier FL. Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. Am J Hum Genet 2008;82:1178-1184.
3. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M. ISCEV Standard for full-feld clinical electroretinography (2008 update). Doc Ophthalmol 2009;118(1):69-77.
4. Franceschetti A, Valerio M. Malformations associées des yeux et des oreilles. Confn Neurol. 1945;6:255-257.
5. Traboulsi EI. The Marshall M. Parks memorial lecture: mak¬ing sense of early-onset childhood retinal dystrophies-the clinical phenotype of Leber congenital amaurosis. BJO 2010;94(10):1281-1287.
6. Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta-Diez I, Zenteno JC. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Mol Vis 2006;4(12):1483-1489. (Pubitemid 46002466)