A Case of Retinal Pigmentary Degeneration in PKAN
Journal of the Korean Ophthalmological Society
;
: 529-533, 2013.
Artigo
em Coreano
| WPRIM
| ID: wpr-181306
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. CASESUMMARY:
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fosfotransferases
/
Retina
/
Degeneração Retiniana
/
Retinaldeído
/
Gânglios da Base
/
Encéfalo
/
Imageamento por Ressonância Magnética
/
Dedos do Pé
/
Atrofia Óptica
/
Cegueira Noturna
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Ophthalmological Society
Ano de publicação:
2013
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS