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Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
- Source :
-
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2017 Nov; Vol. 255 (11), pp. 2099-2111. Date of Electronic Publication: 2017 Jul 27. - Publication Year :
- 2017
-
Abstract
- Purpose: To describe clinical and molecular characteristics in a group of Italian female choroideremia (CHM) carriers and report fundus patterns.<br />Methods: We retrospectively studied 11 female carriers belonging to six CHM families examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence. We took into consideration patients with a comprehensive ophthalmological examination, fundus photography, optical coherence tomography (OCT), full field electro-retinography (ERG), and visual field (VF). All patients were screened for mutations of the CHM gene.<br />Results: Fundus examination revealed retinal abnormalities in all female carriers (11/11) in the study; in particular four fundus patterns were identified: pattern A (RPE dystrophy involving only the peripheral retina), pattern B (RPE dystrophy involving the peripheral retina and the posterior pole with small hypo-pigmented RPE areas), pattern C (RPE dystrophy involving the peripheral retina and the posterior pole with small yellowish well-defined dots), and pattern D (RPE dystrophy involving the peripheral retina and the posterior pole with large hypo-pigmented RPE areas and well-defined yellowish dots). Pattern D was characterized by widespread macular subretinal drusenoid deposits (SDD). Half of the observed mutations were novel mutations. A genotype-phenotype correlation was not identified.<br />Conclusions: Retinal dystrophy and SDD were detected in our female CHM carriers, and fundus patterns have been described in this study. The recognition of specific fundoscopic patterns may permit a correct diagnosis, an appropriate molecular investigation and genetic counseling.
- Subjects :
- Adaptor Proteins, Signal Transducing metabolism
Adolescent
Adult
Aged
Child
Choroideremia diagnosis
Choroideremia genetics
DNA Mutational Analysis
Electroretinography
Female
Fluorescein Angiography
Fundus Oculi
Heterozygote
Humans
Middle Aged
Ophthalmoscopy
Pedigree
Phenotype
Retinal Dystrophies diagnosis
Retinal Dystrophies genetics
Retrospective Studies
Tomography, Optical Coherence methods
Visual Fields
Young Adult
rab GTP-Binding Proteins
Adaptor Proteins, Signal Transducing genetics
Choroideremia complications
DNA genetics
Mutation
Retina pathology
Retinal Dystrophies etiology
Visual Acuity
Subjects
Details
- Language :
- English
- ISSN :
- 1435-702X
- Volume :
- 255
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
- Publication Type :
- Academic Journal
- Accession number :
- 28752371
- Full Text :
- https://doi.org/10.1007/s00417-017-3751-5