J Korean Ophthalmol Soc.  2013 Mar;54(3):529-533. 10.3341/jkos.2013.54.3.529.

A Case of Retinal Pigmentary Degeneration in PKAN

• Jo SH
• Cheon CK
• Kim YU
• Jung JH

• KMID: 2216778
• DOI: http://doi.org/10.3341/jkos.2013.54.3.529

Abstract

PURPOSE
Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation is an extremely rare degenerative disease. The present study reports a case of retinal pigmentary changes in PKAN.
CASE SUMMARY
A 6-year-old girl presented with night blindness and developmental delay. Neurologic examination revealed toe gait and dystonia. Ocular examination showed retinal pigmentary change in the entire retina without optic atrophy. Brain magnetic resonance imaging showed iron deposits in the basal ganglia, the so-called "eye of the tiger" sign. Genetic tests confirmed a mutation in the gene encoding pantothenate kinase 2. Electroretinography demonstrated severe loss of rod and cone responses, prominently reduced in the rod response. The patient was diagnosed with PKAN and pharmacologic treatment started.
CONCLUSIONS
In the case of systemic neurological abnormalities with pigmentary retinal change, PKAN should be considered as a differential diagnosis.

Keyword

Iron; Pantothenate kinase-associated neurodegeneration; Retinal degeneration

MeSH Terms

Basal Ganglia
Brain
Diagnosis, Differential
Dystonia
Electroretinography
Gait
Humans
Iron
Magnetic Resonance Imaging
Neurologic Examination
Night Blindness
Optic Atrophy
Pantothenate Kinase-Associated Neurodegeneration
Phosphotransferases
Phosphotransferases (Alcohol Group Acceptor)
Retina
Retinal Degeneration
Retinaldehyde
Toes
Iron
Phosphotransferases
Phosphotransferases (Alcohol Group Acceptor)
Retinaldehyde

Figure

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  Figure 1. Fundus photographs show scattered bone-spicule formations, peripheral retinal depigmentation, and the retinal vessel changes in both eyes (A, B).

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  Figure 2. Electroretinography demonstrated severe loss of rod and cone responses, prominently reduced in rod response.

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  Figure 3. Brain M R shows focal high signal intensity within the low signal intensity, in both globus pallidus in T2W I (T2-weighted) & SW I (susceptibility weighted image).

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  Figure 4. In partial sequence of PANK2 gene, there are c.1154_ 1155 ins(T), c.1319G > C mutation on exon3 and exon 4 (blue arrow).

Reference

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