RT info:eu-repo/semantics/article
T1 Phenotypic differences in a PRPH2 mutation in members of the same family assessed with OCT and OCTA
A1 Albertos Arranz, Henar
A1 Sánchez Sáez, Xavier
A1 Martínez Gil, Natalia
A1 Pinilla Lozano, Isabel
A1 Coco Martín, Rosa María
A1 Delgado Fernández, Jesús
A1 Cuenca Navarro, Nicolás
K1 Ophthalmology
K1 Eye - Diseases
K1 Ojo - Enfermedades y defectos
K1 Retina - Diseases
K1 Retina - Enfermedades
K1 Optical coherence tomography
K1 Eye - Diseases - Tomography
K1 3201.09 Oftalmología
AB Choroidal dystrophies comprise a group of chorioretinal degenerations. However, the different findings observed among these patients make it difficult to establish a correct clinical diagnosis. The objective of this study was to characterize new clinical findings by optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) in these patients. Four family members with a PRPH2 gene mutation (p.Arg195Leu) were included. OCT was performed at the macula, and the thickness of the outer and inner retina, total retina, and choroid was measured. The features of the vascular network were analyzed by OCTA. Patients showed a decreased outer nuclear layer in the avascular area compared with the controls. Two patients presented greater foveal and parafoveal degeneration of the outer retina, whereas the most degenerated area in the rest was the perifovea. Disruption of the third outer band at the foveola is one of the first-altered outer bands. Slow blood flow areas or capillary dropout were main signs in the deep capillary plexus. Microaneurysms were frequently observed in less degenerated retinas. Vascular loops and intraretinal microvascular abnormalities (IRMAs) were present in the superficial plexus. Extensive degeneration of the choriocapillaris was detected. Phenotypic differences were found between patients: two showed central areolar choroidal dystrophy and the rest had extensive chorioretinal atrophy. These signs observed in OCT and OCTA can help to more appropriately define the clinical disease in patients with choroidal dystrophies.
PB MDPI
SN 2075-4418
YR 2021
FD 2021
LK https://uvadoc.uva.es/handle/10324/59695
UL https://uvadoc.uva.es/handle/10324/59695
LA eng
NO Diagnostics, 2021, Vol. 11, Nº. 5, 777
NO Producción Científica
DS UVaDOC
RD 27-dic-2024