Ophthalmologic features of Vici syndrome

Journal of Pediatric Ophthalmology and Strabismus

Volumn 51, Issue 4, 2014, Pages 214-220

  Filloux, Francis M ^a   Hoffman, Robert O ^a   Viskochil, David H ^a   Jungbluth, Heinz ^b   Creel, Donnell J ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BODY POSTURE; CHILD; CLINICAL ARTICLE; DIPLOPIA; EYE MOVEMENT; FEMALE; HUMAN; MALE; POSTOPERATIVE COMPLICATION; PRISM; READING; STRABISMUS; SUPERIOR OBLIQUE MUSCLE PARALYSIS; AGENESIS OF CORPUS CALLOSUM; ALBINISM, OCULAR; ALBINISM, OCULOCUTANEOUS; CASE REPORT; CATARACT; EVOKED VISUAL RESPONSE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS, PATHOLOGIC; OPTICAL COHERENCE TOMOGRAPHY; PRESCHOOL CHILD;

AGENESIS OF CORPUS CALLOSUM; ALBINISM, OCULAR; ALBINISM, OCULOCUTANEOUS; CATARACT; CHILD, PRESCHOOL; EVOKED POTENTIALS, VISUAL; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; NYSTAGMUS, PATHOLOGIC; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84905437574     PISSN: 01913913     EISSN: 19382405     Source Type: Journal    
DOI: 10.3928/01913913-20140423-02     Document Type: Article

References (31)

1. Nielsen LS, Skov L, Jensen H. Visual dysfunctions and ocular disorders in children with developmental delay: I. Prevalence, diagnoses and aetiology of visual impairment. Acta Ophthalmol Scand. 2007;85:149-156.
2. Garcia-Filion P, Epport K, Nelson M, et al. Neuroradiographic, endocrinologic, and ophthalmic correlates of adverse developmental outcomes in children with optic nerve hypoplasia: a prospective study. Pediatrics. 2008;121:e653-e659.
3. Garcia ML, Ty EB, Taban M, David Rothner A, Rogers D, Traboulsi EI. Systemic and ocular findings in 100 patients with optic nerve hypoplasia. J Child Neurol. 2006;21:949-956.
4. Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS. Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. Am J Med Genet. 1989;32:461-467.
5. Riedl S, Vosahlo J, Battelino T, et al. Refining clinical phenotypes in septo-optic dysplasia based on MRI findings. Eur J Pediatr. 2008;167:1269-1276.
6. Bedeschi MF, Bonaglia MC, Grasso R, et al. Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. Pediatr Neurol. 2006;34:186-193.
7. Schell-Apacik CC, Wagner K, Bihler M, et al. Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A. 2008;146:2501-2511.
8. Paul LK, Brown WS, Adolphs R, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci. 2007;8:287-299.
9. Engle EC. Human genetic disorders of axon guidance. Cold Spring Harb Perspect Biol. 2010;2:a001784.
10. Goyal R, Watts P, Hourihan M. Ocular findings in pediatric patients with partial agenesis of the corpus callosum. J Pediatr Ophthalmol Strabismus. 2010;47:236-241.
11. Palmer L, Zetterlund B, Hard AL, Steneryd K, Kyllerman M. Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. Neuropediatrics. 2006;37:154-158.
12. Iturralde D, Meyerle CB, Yannuzzi LA. Aicardi syndrome: chorioretinal lacunae without corpus callosum agenesis. Retina. 2006;26:977-978.
13. Patel N, Hejkal T, Katz A, Margalit E. Ocular manifestations of Donnai-Barrow syndrome. J Child Neurol. 2007;22:462-464.
14. Richieri-Costa A, Guion-Almeida ML. The syndrome of frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies: phenotypic and aetiological considerations. Int J Med Sci. 2004;1:34-42.
15. Dionisi Vici C, Sabetta G, Gambarara M, et al. Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. Am J Med Genet. 1988;29:1-8.
16. del Campo M, Hall BD, Aeby A, et al. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. Am J Med Genet. 1999;85:479-485.
17. Chiyonobu T, Yoshihara T, Fukushima Y, et al. Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. Am J Med Genet. 2002;109:61-66.
18. Miyata R, Hayashi M, Sato H, et al. Sibling cases of Vici syndrome:sleep abnormalities and complications of renal tubular acidosis. Am J Med Genet A. 2007;143:189-194.
19. Al-Owain M, Al-Hashem A, Al-Muhaizea M, et al. Vici syndrome associated with unilateral lung hypoplasia and myopathy. Am J Med Genet A. 2010;152:1849-1853.
20. McClelland V, Cullup T, Bodi I, et al. Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. Am J Med Genet A. 2010;152:741-747.
21. Rogers RC, Aufmuth B, Monesson S. Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability. Case Rep Genet. 2011;2011:421582.
22. Finocchi A, Angelino G, Cantarutti N, et al. Immunodeficiency in Vici syndrome: a heterogeneous phenotype. Am J Med Genet A. 2012;158:434-439.
23. Said E, Soler D, Sewry C. Vici syndrome: a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy. Am J Med Genet A. 2012;158:440-444.
24. Ozkale M, Erol I, Gümüs A, Ozkale Y, Alehan F. Vici syndrome associated with sensorineural hearing loss and laryngomalacia. Pediatr Neurol. 2012;47:375-378.
25. Cullup T, Kho AL, Dionisi-Vici C, et al. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet. 2013;45:83-87.
26. Creel DJ, Witkop CJ Jr, King RA. Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies. Invest Ophthal Vis Sci. 1974;13:430-440.
27. Creel DJ, O'Donnell FE Jr, Witkop CJ Jr. Visual system anomalies in human ocular albinos. Science. 1978;201:931-933.
28. Creel DJ, Summers CG, King RA. Visual anomalies associated with albinism. Ophthalmic Paediatrics Genet. 1990;11:193-200.
29. Dorey SE, Neveu MM, Burton LC, Sloper JJ, Holder GE. The clinical features of albinism and their correlation with visual evoked potentials. Br J Ophthalmol. 2003;87:767-772.
30. Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007;2:43.
31. Aicardi J. Aicardi syndrome. Brain Dev. 2005;27:164-171.