A Case of Retinal Pigmentary Degeneration in PKAN

Seong Ho Jo; Chong Kun Cheon; Yong U Kim; Jae Ho Jung

doi:10.3341/jkos.2013.54.3.529

Journal List > J Korean Ophthalmol Soc > v.54(3) > 1009633

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Jo, Cheon, Kim, and Jung: A Case of Retinal Pigmentary Degeneration in PKAN

Original Article

J Korean Ophthalmol Soc 2007;54(3):529-533.

Published online: 24 August 2007

DOI: https://doi.org/10.3341/jkos.2013.54.3.529

A Case of Retinal Pigmentary Degeneration in PKAN

Seong Ho Jo, MD¹, Chong Kun Cheon, MD, PhD², Yong U Kim, MD, PhD³, Jae Ho Jung, MD, PhD^1,

¹Department of Ophthalmology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Busan, Korea

²Department of Pediatrics, Division of Genetics and Metabolism, Pusan National University Children's Hospital, Pusan National University School of Medicine, Busan, Korea

³Department of Radiology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Busan, Korea

Address reprint requests to Jae Ho Jung, MD, PhD Department of Ophthalmology, Pusan National University Yangsan Hospital #20 Geumo-ro, Mulgeum-eup, Yangsan 626-770, Korea Tel: 82-55-360-2494, Fax: 82-55-360-2161, E-mail: jaeho0130@naver.com

Received 16 March 201222 May 2012 Accepted 2 January 2013

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Iron, Pantothenate kinase-associated neurodegeneration, Retinal degeneration

References

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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).

Figure 2.

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

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).

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).

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