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Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family
- Publication Year :
- 2016
- Publisher :
- Dr. Dietrich Steinkopff Verlag GmbH and Co. KG, 2016.
-
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.
- Subjects :
- Adult
Male
0301 basic medicine
medicine.medical_specialty
Neurology
genetic structures
Consanguineous family
Hereditary spastic paraplegia
Visual impairment
Macular Degeneration
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
Ophthalmology
Humans
Point Mutation
Medicine
Cytochrome P450 Family 2
Spastic Paraplegia, Hereditary
business.industry
Retinal
Middle Aged
medicine.disease
Phenotype
Pedigree
Ophthalmoscopy
CYP2U1
HSPs
pigmentary degenerative maculopathy
SPG56
neurology
neurology (clinical)
030104 developmental biology
Italy
chemistry
Evoked Potentials, Visual
Maculopathy
Female
Neurology (clinical)
medicine.symptom
business
Tomography, Optical Coherence
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....4e99f0ae4d25a886fa622a8b8d892a56