Macular dystrophy in Heimler syndrome

Ophthalmic Genetics

Volumn 32, Issue 2, 2011, Pages 97-100

  Lima, Luiz H ^a,b   Barbazetto, Irene A ^a   Chen, Royce ^c   Yannuzzi, Lawrence A ^a,c   Tsang, Stephen H ^c,d   Spaide, Richard F ^a  

^a EAR AND THROAT HOSPITAL   (United States)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c Och Spine at New York Presbyterian Hospitals   (United States)

^d NewYork Presbyterian Hospital   (United States)

Author keywords

Amelogenesis imperfecta; Ciliopathy; Deafness; Heimler syndrome; Nail abnormalities; Retina

Indexed keywords

ADULT; ARTICLE; CASE REPORT; ELECTRORETINOGRAPHY; ENAMEL HYPOPLASIA; FEMALE; HEIMLER SYNDROME; HUMAN; NAIL DISEASE; OPTICAL COHERENCE TOMOGRAPHY; PERCEPTION DEAFNESS; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA IMAGE; RETINA MACULA DEGENERATION; VISUAL IMPAIRMENT;

ADULT; AMELOGENESIS IMPERFECTA; BLINDNESS; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; HEARING LOSS, SENSORINEURAL; HUMANS; MACULAR DEGENERATION; NAILS, MALFORMED; RETINAL PIGMENT EPITHELIUM; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY;

EID: 79955865000     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2010.551797     Document Type: Article

References (16)

1. Heimler A, Fox JE, Hershey JE, Crespi P. Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. Am J Med Genet 1991;39:192-195.
2. Tischkowitz M, Clenaghan C, Davies S, et al. Amelogenesis imperfect, sensorineural hearing loss, and Beau's lines: a second case report of Heimler's syndrome. J Med Genet 1999;36:941-943. (Pubitemid 30003859)
3. Pollack C, Floy M, Say, B. Sensorineural hearing loss and enamel hypoplasia with subtle nail fndings: another family with Heimler's syndrome. Clin Dysmorphol 2003;12:55-58. (Pubitemid 36106236)
4. Ong KR, Visram S, McKaig S, Brueton LA. Sensorineural deaf-ness, enamel abnormalities and nail abnormalities. Eur J Med Genet 2006 49:187-193.
5. Ramamurthy V, Cayouettte M. Development and disease of the photoreceptor cilium. Clin Genet 2009;76:137-145.
6. Cardenas-Rodriguez M, Badano JL. Ciliary biology: understand-ing the cellular and genetic basis of human ciliopathies. Am J Med Genet C Semin Med Genet 2009;151:263-280.
7. Toriello HV, Parisi MA. Cilia and the ciliopathies: an introduction. Am J Med Genet C Semin Med Genet 2009;151:261-262.
8. Baker K, Beales PL. Making sense of cilia in disease: the human ciliopa-thies. Am J Med Genet C Semin Med Genet 2009; 151: 281-295.
9. D'Angelo A, Franco B. The dynamic cilium in human disease. Pathogenetics 2009;2:3.
10. Stenkamp DL, Satterfeld R, Muhunthan K, et al. Age-related cone abnormalities in zebrafsh with genetic lesions in sonic hedge-hog. Invest Ophthalmol Vis Sci 2008;49:4631-4640.
11. Dassule HR, Lewis P, Bei M, et al. Sonic hedgehog regulates growth and morphogenesis of the tooth. Development 2000;127:4775-4785.
12. Ohazama A, Haycraft CJ, Seppala M, et al. Primary cilia regu-late Shh activity in the control of molar tooth number. Development 2009;136:897-903.
13. Hamrick MW. Development and evolution of the mammalian limb: adaptive diversifcation of nails, hooves and claws. Evol Dev 2001 3:355-363. (Pubitemid 32984019)
14. Driver EC, Pryor SP, Hill P, et al. Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans. J Neurosci 2008;28:7350-7358.
15. Ruiz-Perez VL, Goodship JA. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. Am J Med Genet C Semin Med Genet 2009;151C:341-351.
16. Singla V, Reiter JF. The primary cilium as the cell's antenna: sig-naling at a sensory organelle. Science 2006;313:629-633. (Pubitemid 44201133)