Ophthalmology. Retina最新文献

Objective: To characterize and compare our cohorts of pediatric patients with types I and II Stickler syndrome, with a focus on ophthalmic features.

Design: Retrospective cohort study.

Subjects: Twenty-six patients (22 families) with clinical and genetic diagnoses of type I or II Stickler syndrome.

Methods: Review of clinical notes and molecular diagnoses.

Main outcome measures: Ophthalmic and systemic features and responses to laser treatment.

Results: Our cohorts had an equal number of patients with COL2A1-related/type I and COL11A1-related/type II Stickler syndrome (n = 13; 50%) and included 12 previously unpublished variants. Patients in type I and II cohorts had similar average ages at presentation and length of follow-up. There were more self-identifying Hispanic patients among the type II cohort than type I (69% vs. 39%, P = 0.145). Individuals with type II on average had significantly higher myopia compared with those with type I (P = 0.008). Retinal detachment (RD) in at least 1 eye was diagnosed in 39% of the type I cohort (7 eyes, 5 patients) and 46% of the type II (7 eyes, 6 patients). Laser prophylaxis was used in 69% of patients with type I and 85% with type II. Unilateral RD after laser prophylaxis occurred in 1 patient with type I and 2 with type II. All identified COL2A1 variants in the type I cohort are expected to cause disease through haploinsufficiency, and 92% of COL11A1 variants in the type II cohort are presumed to be in-frame and exert a dominant-negative effect, consistent with historical reporting.

Conclusions: The proportion of types I and II Stickler syndrome are equal in our pediatric population, and patients self-identifying as Hispanic comprised the majority of type II, supporting the need for additional study of possible underdetection of type II in diverse populations. Our type II cohort showed higher myopia and incidence of Pierre Robin sequence, and similar rates of RD and systemic manifestations compared with the type I cohort. Our data sets provide important data regarding the safety and short-term effectiveness of laser prophylaxis, but larger and longer-term studies are needed, especially for those with type II Stickler syndrome.

Financial disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Purpose: The foveal avascular zone (FAZ) area has been explored as a measure of macular ischemia in diabetic retinopathy (DR) but is limited by its wide variability even in healthy individuals. We hypothesized that FAZ enlargement, which we defined as the difference between the functional FAZ (on optical coherence tomography angiography; OCTA) and structural FAZ (en face OCT), may be a more accurate metric of macular ischemia. In this study, we test the hypothesis that FAZ enlargement is associated with decreased best-corrected visual acuity (BCVA) and low luminance visual acuity (LLVA) and performs better than the functional FAZ as a marker of vision loss.

Design: Cross-sectional study SUBJECTS: Patients with diabetes mellitus (DM) and a wide range of DR severity METHODS: For 264 eyes from 174 patients, we measured BCVA and LLVA using ETDRS letter scores. Averaged en face OCT and OCTA scans identified the structural and functional FAZ areas, respectively. Spearman's rho quantified relationships between FAZ enlargement and VA, which were further assessed with linear mixed-effects models that accounted for potential confounders, which were identified as significant factors on univariate analysis.

Main outcome measures: Relationship between FAZ enlargement (or functional FAZ area) and visual function RESULTS: Age, axial length, lens status (phakic or pseudophakic), hypertensive status, ischemic heart disease, cerebrovascular disease, renal disease, dyslipidemia, DR severity, and functional FAZ area correlated with BCVA on univariate analysis. Age, BMI, hypertension, ischemic heart disease, renal disease, dyslipidemia, smoking status, DR severity, and functional FAZ area correlated with LLVA on univariate analysis. FAZ enlargement demonstrated a weak negative correlation with BCVA (ρ = -.364, p < .001) and LLVA (ρ = -.306, p < .001), which remained significant in mixed-effects regression analysis. Functional FAZ area was not a significant predictor of BCVA or LLVA in models where FAZ enlargement was also included as a predictor. Model comparison using ANOVA indicated that inclusion of FAZ enlargement improved the prediction of BCVA (χ²=5.62, p = .018) and LLVA (χ² = 4.99, p = .025).

Conclusion: FAZ enlargement performed better than the functional FAZ providing an improved imaging metric of the influence of foveal ischemia on vision impairment in DR.

Purpose: To determine local OCT structural correlates of deep visual sensitivity defects (threshold of ≤10 decibels on microperimetry) in early atrophic age-related macular degeneration (AMD).

Design: Prospective observational study.

Participants: Forty eyes from 40 participants, with at least incomplete retinal pigment epithelium (RPE) and outer retinal atrophy, or more advanced atrophic lesion(s).

Methods: Participants underwent ≥2 targeted, high-density microperimetry tests of atrophic lesions of interest in 1 eye, and high-density 3×3-mm volume scans of that region on a swept-source OCT angiography device, all at a single visit. Seven OCT-defined features of atrophy were manually annotated: hypertransmission, RPE attenuation/disruption, complete RPE loss, ellipsoid zone disruption, external limiting membrane (ELM) disruption, subsidence of the outer plexiform layer and inner nuclear layer, and/or hyporeflective wedge-shaped band, and outer nuclear layer (ONL) thickness.

Main outcome measures: Association between OCT-defined features of atrophy and presence of a deep visual sensitivity defect at a local, pointwise level.

Results: All OCT-defined features of atrophy were individually associated with the presence of a deep visual sensitivity defect at a pointwise level in univariable mixed-effects logistic regression analyses (P < 0.001 for all). However, only hypertransmission, complete RPE loss, ELM disruption, and ONL thickness remained significantly and independently associated with deep visual sensitivity defects in a multivariable analysis (P ≤ 0.011). A prediction model incorporating these 4 OCT features (partial area under the curve [pAUC] at ≥90% specificity = 0.80) outperformed models using any single feature alone in predicting the presence of deep visual sensitivity defects (pAUC = 0.65 to 0.78, respectively; P ≥ 0.040).

Conclusions: The study identified hypertransmission, complete RPE loss, ELM disruption, and ONL thickness as key OCT-defined features of atrophy independently associated with deep visual sensitivity defects. These findings are important when considering anatomical outcome measures for evaluating interventions for early atrophic AMD that are most likely to capture beneficial treatment effects that will be accompanied by evidence of functional preservation if measured directly.

Financial disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Objective: To evaluate the risk of age-related macular degeneration (AMD) development and progression in individuals with diagnosed obstructive sleep apnea (OSA).

Design: Retrospective cohort study.

Subjects: Before propensity score matching (PSM), 60 652 and 1 173 723 individuals with OSA or not, respectively, were included in the study. After PSM and applying inclusion/exclusion criteria, 58 700 individuals in each cohort were subsequently analyzed.

Methods: Data were collected using TriNetX, a deidentified electronic health records research network. Individuals with an International Classification of Diseases, 10th Revision, code for OSA confirmed with polysomnography and an additional code for continuous positive airway pressure use were compared with individuals without diagnosed OSA (control cohort) for the development of main outcome measures at 5 years. Secondary analyses were included to assess nonadvanced AMD progression in individuals with and without diagnosed OSA at 5 years.

Main outcome measures: The main outcome measures were the incidence of AMD, macular hemorrhage, legal blindness, and requiring anti-VEGF intervention at 5 years. Individuals with nonadvanced AMD with and without an OSA diagnosis were separately analyzed for progression to late AMD and the development of macular hemorrhage, legal blindness, and requiring anti-VEGF therapy at 5 years.

Results: At 5 years, individuals with diagnosed OSA had a significantly elevated risk of nonexudative AMD (hazard ratio [HR], 2.64; 95% confidence interval [CI], 2.37-2.96; P < 0.001), exudative AMD (HR, 2.48; 95% CI, 1.99-3.11; P = 0.002), and requiring anti-VEGF therapy (HR, 2.85; 95% CI, 2.26-3.59; P < 0.001) compared with the control cohort. In the secondary analysis, individuals with nonadvanced AMD with diagnosed OSA were associated with an elevated risk of geographic atrophy (HR, 7.00; 95% CI, 4.47-11.0; P = 0.03), exudative AMD (HR, 2.87; 95% CI, 2.37-3.48; P = 0.03), and requiring anti-VEGF injections (HR, 4.72; 95% CI, 3.59-6.22; P = 0.02) compared with those with nonadvanced AMD without diagnosed OSA.

Conclusions: In a large, heterogeneous database, an elevated risk of developing AMD and progression to later stages of the disease was observed among individuals with diagnosed OSA.

Financial disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.