Document Detail

Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).
MedLine Citation:
PMID:  16023068     Owner:  NLM     Status:  MEDLINE    
PURPOSE: The onset of pantothenate kinase-associated neurodegeneration (PKAN) occurs in the first and second decade of life and a pigmentary retinal degeneration is a feature of the disorder. Since the neuro-ophthalmologic and electroretinographic (ERG) features have never been well delineated, we describe them in 16 patients with PKAN.
DESIGN: Observational case series.
METHODS: Sixteen patients with genetic and neuroimaging-confirmed PKAN were examined. Ten underwent neuro-ophthalmologic examination and all had ERGs.
RESULTS: Of the 10 who underwent neuro-ophthalmologic examination, all showed saccadic pursuits and eight showed hypometric or slowed vertical saccades. Seven of eight had inability to suppress the vestibulo-ocular reflex; two patients could not cooperate. Two had square wave jerks and four had poor convergence. Vertical optokinetic responses were abnormal in five, and two patients had blepharospasm. Eight patients had sectoral iris paralysis and partial loss of the pupillary ruff consistent with Adie's pupils in both eyes. Only four of 10 examined patients showed a pigmentary retinopathy, but 11 of 16 had abnormal ERGs ranging from mild cone abnormalities to severe rod-cone dysfunction. No patient had optic atrophy. The PANK2 mutations of all of the patients were heterogeneous.
CONCLUSIONS: Adie's-like pupils, abnormal vertical saccades, and saccadic pursuits were very common. These findings suggest that mid-brain degeneration occurs in PKAN more frequently than previously thought. ERG abnormalities were present in approximately 70% and no patient had optic atrophy. Although genotype-ocular phenotype correlations could not be established, allelic differences probably contributed to the variable clinical expression of retinopathy and other clinical characteristics in these patients.
Robert A Egan; Richard G Weleber; Penelope Hogarth; Allison Gregory; Jason Coryell; Shawn K Westaway; Jane Gitschier; Soma Das; Susan J Hayflick
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of ophthalmology     Volume:  140     ISSN:  0002-9394     ISO Abbreviation:  Am. J. Ophthalmol.     Publication Date:  2005 Aug 
Date Detail:
Created Date:  2005-08-09     Completed Date:  2005-08-30     Revised Date:  2013-06-09    
Medline Journal Info:
Nlm Unique ID:  0370500     Medline TA:  Am J Ophthalmol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  267-74     Citation Subset:  AIM; IM    
Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland 97201, USA.
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MeSH Terms
Brain / pathology
DNA Mutational Analysis
Magnetic Resonance Imaging
Ocular Motility Disorders / diagnosis*,  physiopathology
Pantothenate Kinase-Associated Neurodegeneration / diagnosis*,  enzymology,  physiopathology
Phosphotransferases (Alcohol Group Acceptor) / genetics,  metabolism*
Photoreceptor Cells, Vertebrate / physiology
Polymerase Chain Reaction
Retinal Degeneration / diagnosis*,  physiopathology
Tonic Pupil / diagnosis*,  physiopathology
Grant Support
M01 RR000334/RR/NCRR NIH HHS; R01 EY012353-06/EY/NEI NIH HHS
Reg. No./Substance:
EC 2.7.1.-/Phosphotransferases (Alcohol Group Acceptor); EC kinase

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