1/30/2024 0 Comments Usher syndrome support groups![]() Similarly, the multiple linear regression showed a significant association between ring diameter and age ( p < 0.001) but not gene ( p = 0.3). The multiple logistic regression showed an increased likelihood of advanced structural disease (patch or atrophy) with age (Exp(B) = 1.1, p < 0.001) but no correlation with gene (Exp(B) = 0.9, p = 0.8). A multiple regression was performed to determine whether there was any difference in the autofluorescence patterns between different genetic groups with consideration of age-related disease progression. A hyperautofluorescent ring was present in 70% of USH2A and 63% of ADGRV1 patients. The FAF patterns were qualitatively similar between the two groups (examples in Figure 3). Table 2 shows the distribution of the different FAF patterns between the two groups on the measured eye. The patients with asymmetry had either a combination of a hyperautofluorescent ring and patch ( n = 7) or patch and atrophy ( n = 4). There was a good interocular symmetry of the FAF patterns the same FAF pattern was present in 94% (136/145) of USH2A and 88% (14/16) of ADGRV1 patients. The purpose of this study is to describe the characteristics of retinal disease in the largest cohort of ADGRV1 patients to date and compare them with those of USH2A patients. In contrast, the clinical presentations associated with ADGRV1 and WHRN are less well known, as large patient cohorts have not yet been described phenotypically. The characteristics of retinal disease associated with USH2A have been described in many studies and are well known. The pathogenic variants in USH2A are not only the most frequent cause of USH2 but also of RP without the associated hearing impairment (i.e., non-syndromic RP), accounting for 12–25% of cases. It has been associated with pathogenic variants in three genes: USH2A, ADGRV1 (previously known as VLGR1 or GPR98), and WHRN, identified in approximately 90%, 9%, and 1% of USH2 patients, respectively. ![]() Usher syndrome type 2 (USH2) is the most frequent subtype and presents with moderate to severe congenital hearing impairment, the onset of RP in the second decade of life, and normal vestibular function. Usher syndrome (USH) is a recessively inherited disorder characterized by the combination of retinal degeneration in the form of retinitis pigmentosa (RP), sensorineural hearing impairment, and, sometimes, vestibular dysfunction. The results are important for counseling ADGRV1 patients, who represent the minor patient subgroup. ADGRV1 and USH2A retinopathy were indistinguishable in all major functional and structural characteristics, suggesting that the loss of function of the corresponding proteins produces similar effects in the retina. There was no statistical difference in the median age at onset (30 and 18 years Mann–Whitney U test, p = 0.13) the mean age when 50% of the patients reached legal blindness (≥1.0 log MAR) based on visual acuity (64 years for both groups log-rank, p = 0.3) the risk of developing advanced retinal degeneration (patch or atrophy) with age (multiple logistic regression, p = 0.8) or the frequency of cystoid macular edema (31% vs. The purpose of the study was to characterize the retinal phenotype of 18 ADGRV1 patients (9 male, 9 female median age 52 years) and compare it with that of 204 USH2A patients (111 male, 93 female median age 43 years) in terms of nyctalopia onset, best corrected visual acuity (BCVA), fundus autofluorescence (FAF), and optical coherence tomography (OCT) features. ![]() In contrast to USH2A, variants in ADGRV1 are a minor cause of Usher syndrome type 2, and the associated phenotype is less known. ![]()
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