Back to Search
Start Over
Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa
- Source :
- Ophthalmic genetics. 39(5)
- Publication Year :
- 2018
-
Abstract
- To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6B by measuring the progressive constriction of the hyperautofluorescent ring and shortening of the ellipsoid zone (EZ)-line width.Fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT) images were obtained from seven patients with autosomal recessive RP caused by mutations in either PDE6A or PDE6B. Measurements of the EZ line width on SD-OCT images and horizontal, vertical diameter, and ring area on FAF images were performed by two independent graders. The measurements of these four parameters were correlated with one another.We observed that the EZ line width decreased by an average of 91 ± 64 µm per year, while the horizontal and vertical diameters decreased by 103 ± 53 µm and 92 ± 49 µm per year, respectively. The ring area decreased by a rate of 0.3 ± 0.18 mmWe observed a progressive loss of EZ line width and Short-wavelength fundus autofluorescence (SW-AF) ring constriction over time. These results may serve as reference for better prognostic prediction and patients selection for clinical trials promoting cone rescue.
- Subjects :
- 0301 basic medicine
Adult
Male
medicine.medical_specialty
Fundus Oculi
Visual Acuity
Genes, Recessive
Constriction
03 medical and health sciences
0302 clinical medicine
Optical coherence tomography
PDE6B
Ophthalmology
Retinitis pigmentosa
medicine
Humans
Eye Proteins
Genetics (clinical)
Cyclic Nucleotide Phosphodiesterases, Type 6
medicine.diagnostic_test
business.industry
Disease progression
medicine.disease
Prognosis
Line width
Fundus autofluorescence
030104 developmental biology
Pediatrics, Perinatology and Child Health
Mutation
030221 ophthalmology & optometry
Disease Progression
Female
sense organs
Autosomal recessive retinitis pigmentosa
business
Retinitis Pigmentosa
Subjects
Details
- ISSN :
- 17445094
- Volume :
- 39
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Ophthalmic genetics
- Accession number :
- edsair.doi.dedup.....989d38cad97ced8bafc93674e2e0eab8