![[Optical coherence tomography in Malattia Leventinese].](/static/images/no-image.png)
Journal article
[Optical coherence tomography in Malattia Leventinese].
- Gaillard MC Hôpital Ophtalmique Jules Gonin, Université de Lausanne, Suisse.
- Wolfensberger TJ
- Uffer S
- Mantel I
- Pournaras JA
- Schorderet DF
- Munier FL
- 2005-03-24
Published in:
- Klinische Monatsblatter fur Augenheilkunde. - 2005
Adolescent
Adult
Angiography
Chromosome Aberrations
Corneal Dystrophies, Hereditary
DNA Mutational Analysis
Disease Progression
Extracellular Matrix Proteins
Female
Genes, Dominant
Humans
Macula Lutea
Middle Aged
Ophthalmoscopy
Optic Disk
Optic Disk Drusen
Pigment Epithelium of Eye
Retinal Vessels
Sensitivity and Specificity
Tomography, Optical Coherence
English
BACKGROUND
Malattia Leventinese (ML) is a genetically homogeneous macular dystrophy with an autosomal dominant mode of inheritance. Ophthalmoscopically it is recognisable by a radial pattern of drusen-like deposits in the macula and by parapapillary deposits, named Forni's verrucosities. The aim of this study is to describe optical coherence tomographic (OCT) findings and to compare them with histological data.
PATIENTS AND METHODS
Six patients underwent ophthalmological examination, angiography and OCT. Diagnosis was confirmed by genetic analysis of the R345W mutation. A histopathological study of an ML donor eye was performed.
RESULTS
OCT revealed a diffuse RPE-choriocapillaris thickening with nodular features in the macular and parapapillary areas. The protrusions reached as far as the outer nuclear layer.
CONCLUSIONS
OCT is a non-invasive technique that provides a cross-sectional picture of the retina comparable to a histological section. In ML, OCT revealed a diffuse alteration of the RPE-Bruch's membrane complex. The macular and parapapillary nodular lesions are the tomographic equivalents of drusen and Forni's verrucosities.
Malattia Leventinese (ML) is a genetically homogeneous macular dystrophy with an autosomal dominant mode of inheritance. Ophthalmoscopically it is recognisable by a radial pattern of drusen-like deposits in the macula and by parapapillary deposits, named Forni's verrucosities. The aim of this study is to describe optical coherence tomographic (OCT) findings and to compare them with histological data.
PATIENTS AND METHODS
Six patients underwent ophthalmological examination, angiography and OCT. Diagnosis was confirmed by genetic analysis of the R345W mutation. A histopathological study of an ML donor eye was performed.
RESULTS
OCT revealed a diffuse RPE-choriocapillaris thickening with nodular features in the macular and parapapillary areas. The protrusions reached as far as the outer nuclear layer.
CONCLUSIONS
OCT is a non-invasive technique that provides a cross-sectional picture of the retina comparable to a histological section. In ML, OCT revealed a diffuse alteration of the RPE-Bruch's membrane complex. The macular and parapapillary nodular lesions are the tomographic equivalents of drusen and Forni's verrucosities.
- Language
-
- English
- Open access status
- closed
- Identifiers
-
- DOI 10.1055/s-2005-857972
- PMID 15785976
- Persistent URL
- https://sonar.ch/global/documents/139312
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