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. 2005 Aug;140(2):267-74.
doi: 10.1016/j.ajo.2005.03.024.

Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)

Robert A Egan  1 , Richard G Weleber, Penelope Hogarth, Allison Gregory, Jason Coryell, Shawn K Westaway, Jane Gitschier, Soma Das, Susan J Hayflick
Affiliations

Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)

Robert A Egan et al. Am J Ophthalmol. 2005 Aug.

Abstract

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.

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Figures

FIGURE 1
FIGURE 1
T2-weighted axial magnetic resonance imaging (MRI) scan of the brain through the globus pallidus in a normal individual and in an individual with pantothenate kinase-associated neurodegeneration (PKAN). Note that the globus pallidus of the patient with PKAN is much darker than typical with a bright spot in the center bilaterally. This is a typical “eye of the tiger sign” of a patient with PKAN (used with permission from Hayflick SJ, Westaway SK, Levinson B et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003;348:33-40).
FIGURE 2
FIGURE 2
Posterior pole (top) and nasal retina (bottom) of patient 13 with PKAN at age 33 years. The retinal vessels are markedly attenuated and the nasal retina shows scattered bone spicule formations. The macula shows a soft-bordered atrophic lesion with a small area of focal hyperpigmentation. The left fundus was similar in appearance.
FIGURE 3
FIGURE 3
Fundus montage of right eye of patient 3 with PKAN at age 15 years. The optic disk is waxy with mild pallor, the retinal vessels are mildly attenuated with perivenous pigmentary cuffing, and throughout all quadrants there are scattered bone-spicule formations. The reflexes off the inner surface of the retina in the macula suggest retinal swelling or edema. The appearance of the left eye was similar.
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