RESUMO
BACKGROUND/AIMS: To investigate genotype-phenotype associations in patients with KCNV2 retinopathy. METHODS: Review of clinical notes, best-corrected visual acuity (BCVA), molecular variants, electroretinography (ERG) and retinal imaging. Subjects were grouped according to the combination of KCNV2 variants-two loss-of-function (TLOF), two missense (TM) or one of each (MLOF)-and parameters were compared. RESULTS: Ninety-two patients were included. The mean age of onset (mean±SD) in TLOF (n=55), TM (n=23) and MLOF (n=14) groups was 3.51±0.58, 4.07±2.76 and 5.54±3.38 years, respectively. The mean LogMAR BCVA (±SD) at baseline in TLOF, TM and MLOF groups was 0.89±0.25, 0.67±0.38 and 0.81±0.35 for right, and 0.88±0.26, 0.69±0.33 and 0.78±0.33 for left eyes, respectively. The difference in BCVA between groups at baseline was significant in right (p=0.03) and left eyes (p=0.035). Mean outer nuclear layer thickness (±SD) at baseline in TLOF, MLOF and TM groups was 37.07±15.20 µm, 40.67±12.53 and 40.38±18.67, respectively, which was not significantly different (p=0.85). The mean ellipsoid zone width (EZW) loss (±SD) was 2051 µm (±1318) for patients in the TLOF, and 1314 µm (±965) for MLOF. Only one patient in the TM group had EZW loss at presentation. There was considerable overlap in ERG findings, although the largest DA 10 ERG b-waves were associated with TLOF and the smallest with TM variants. CONCLUSIONS: Patients with missense alterations had better BCVA and greater structural integrity. This is important for patient prognostication and counselling, as well as stratification for future gene therapy trials.
RESUMO
AIM: To standardise the nomenclature for reporting optical coherence angiography (OCT-A) findings in the field of uveitis. METHODS: Members of the International Uveitis Study Group, of the American Uveitis Society and of the Sociedad Panamericana de Infermedades Oculares that choose to participate responded to an online questionnaire about their preferred terminology when reporting on OCT-A findings in uveitis. The response of individuals with several publications on OCT-A (experts) was compared with uveitis specialists (users) who have less than five publications on the field of uveitis and OCT-A. RESULTS: A total of 108 uveitis specialists who participated in the survey were included in the analysis. Of those, 23 were considered OCT-A 'experts'. There was an agreement in both groups for the definition of wide-field (WF)-OCT-A, and definition of neovascularisation in uveitis. Moreover, there was a difference in the responses in other areas, such as quantification of ischaemia, definition of 'large' areas of ischaemia or terms to describe decreased OCT-A signal from different causes. There was an unanimous need of 'users' and 'experts' to distinguish size of decreased OCT-A signal in uveitis, to implement a quantitative measurement of decreased flow specifically for WF-OCT-A and to use different terms for different causes of decreased OCT-A signal. CONCLUSIONS: While there was considerable agreement in the terminology used by all uveitis experts, significant differences in terminology were noted between 'users' and 'experts'. These differences indicate the need for standardisation of nomenclature among all uveitis specialists both for the purpose of reporting and in clinical use.