Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family.
J Neurol
; 263(4): 781-3, 2016 Apr.
Article
en En
| MEDLINE
| ID: mdl-26914923
ABSTRACT
SPG56 is an autosomal recessive form of hereditary spastic paraplegia (HSP) associated with mutations in CYP2U1. There is no clear documentation of visual impairment in the few reported cases of SPG56, although this form is complex on clinical ground and visual deficit are extremely frequent in complicated HSP. We report three patients in a consanguineous family harboring the novel homozygous c.1168C>T (p.R390*) in SPG56/CYP2U1, and showing a pigmentary degenerative maculopathy associated with progressive spastic paraplegia. Furthermore, we characterized precisely the ophthalmologic phenotype through indirect ophthalmoscopy, retinal optical coherence tomography and visual evoked potentials. This is the first formal report of pigmentary degenerative maculopathy associated with a CYP2U1 homozygous mutation.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Paraplejía Espástica Hereditaria
/
Familia 2 del Citocromo P450
/
Degeneración Macular
Límite:
Adult
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Female
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Humans
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Male
/
Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
J Neurol
Año:
2016
Tipo del documento:
Article
País de afiliación:
Italia