Dataset Information

Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA.

ABSTRACT: 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.

SUBMITTER: Albertos-Arranz H

PROVIDER: S-EPMC8146155 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Similar Datasets

Project description:Background: Mutations in the collagen components of the glomerular basement membrane (GBM) often lead to hereditary glomerulonephritis. Previous studies have identified that autosomal dominant mutations of Col4A3, Col4A4 or Col4A5 are associated with thin basement membrane nephropathy (TBMN), Alport syndrome and other hereditary kidney diseases. However, the genetic mutations underlying other glomerulonephritis types have not been elucidated. Methods: In this study, we investigated a Chinese family with hereditary nephritis using the methods of genetic sequencing and renal biopsy. Genomic DNA was extracted from peripheral blood of the proband and her sister, and subsequently was performed genetic sequencing. They were found to have the similar mutation sites. Other family members were then validated using Sanger sequencing. The proband and her sister underwent renal puncture biopsies, and experienced pathologists performed PAS, Masson, immunofluorescence, and immunoelectron microscopic staining of the kidney tissue sections. Results: Through genetic sequencing analysis, we detected a novel heterozygous frameshift mutation c.1826delC in the COL4A4 (NM_000092.4) gene coding region, and 1 hybrid missense variation c.86G>A (p. R29Q) was also detected in the TNXB (NM_019105.6) gene coding region in several members of this Chinese family. Interestingly, we found that the same mutations caused different clinical features and distinct pathological changes in individual family members, which confirmed that pathological and genetic testing are crucial for the diagnosis and treatment of hereditary kidney diseases. Conclusion: In this study, we found a novel heterozygous mutation in Col4A4 and co-mutations of the TNXB gene in this Chinese family. Our study indicated that the same Col4A4 mutated variants produced different pathological and clinical changes in different family members. This discovery may provide novel insights into the study of hereditary kidney disease. In addition, new genetic biology techniques and renal biopsy of individual family members are essential.

Project description:Background/aimsTo investigate the association of macular optical coherence tomography (OCT)/OCT angiography (OCTA) parameters with visual acuity (VA) in glaucoma.Methods144 pseudophakic primary open-angle glaucoma eyes were included. Foveal (fVD), parafoveal (pf), perifoveal (perifVD) and whole-image vessel densities (wiVD) of superficial and deep layers, and their corresponding ganglion cell complex (GCC) thicknesses were obtained from OCTA 6×6 mm2 macula scans. Foveal avascular zone (FAZ) area, FAZ circumference and foveal density-300 (FD300) were measured. Correlation between OCT/OCTA parameters and Logarithm of the Minimum Angle of Resolution VA (logMAR VA) in early and moderate-advanced glaucoma was evaluated with age and Signal Strength Index-adjusted mixed models. Area under receiver operating characteristic (AUC) was used to evaluate discriminative power of OCT/OCTA for decreased VA (<20/25).ResultsIn early glaucoma (80 eyes), no parameter correlated with VA. In moderate-advanced glaucoma (64 eyes), greater FAZ area (β=0.228) and circumference (β=0.063) correlated with worse VA (p<0.05), but not FD300. fThinner sectoral and global GCC was associated with worse VA (β=0.002-0.003, p<0.05), except for inferior hemifield perifGCC and wiGCC. For VD, lower superior hemifield superficial perifVD and wiVD (β=0.007-0.008) and deep fVD (β=0.004) correlated with worse VA (p<0.05). OCT/OCTA parameters showed modest ability to discriminate decreased VA, with the superior hemifield performing better than the inferior hemifield. In early glaucoma, GCC and VD showed similar discrimination (AUC=0.67-0.77). In moderate-advanced glaucoma, fGCC and pfGCC yielded higher AUC (0.75-0.81) than VD (AUC=0.63-0.72).ConclusionsSome macular OCT/OCTA parameters were associated with VA in moderate-advanced, but not early glaucoma. These structural parameters may help identify glaucoma patients with impaired vision and reduced quality of life.Trial registration numberNCT00221897.

Dataset Information

Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets