Ophthalmology. Retina最新文献

Purpose: To evaluate the retinal vasculature in pediatric patients with telomere biology disorders (TBDs).

Design: Retrospective consecutive case series.

Subjects: Pediatric patients with a diagnosis of TBD who underwent widefield fluorescein angiography (FA).

Methods: Electronic medical records of pediatric patients with TBD at a tertiary referral eye center were reviewed from January 2019 to July 2023. Vascular phenotype was assessed by reviewing FA images.

Main outcome measures: Incomplete peripheral vascularization, aneurysmal dilatation, terminal arborization, anastomotic loops, capillary dropout, neovascularization, tortuosity, leakage from tractional membranes, and blockage from hemorrhage.

Results: Fourteen eyes from 7 patients were included. All patients were genetically confirmed for TBD. The most common genetic variants were in CTC1 (5 patients; 71.4%), ACD (1 patient; 14.3%), and RTEL1 (1 patient; 14.3%). On FA, the most common findings were incomplete peripheral vascularization (14 eyes, 100%), aneurysmal dilatation (12 eyes, 85.7%), terminal arborization (12 eyes, 85.7%), anastomotic loops (12 eyes, 85.7%), capillary dropout (10 eyes, 71.4%), and neovascularization (9 eyes, 64.3%). Regarding treatment, laser photocoagulation (14 eyes, 100%), intravitreal bevacizumab injection (13 eyes, 92.6%), and subtenon's Kenalog (11 eyes, 78.6%) were utilized. All patients managed with laser photocoagulation and bevacizumab required multiple treatments.

Conclusions: Our study describes a spectrum of vascular changes evidenced by widefield FA in pediatric patients with genetically confirmed TBD. Although further research is warranted to fully understand the etiology of these subtle vascular anomalies, widefield FA should be conducted in patients with genetically confirmed or suspected TBD.

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

Objective: To describe the frequency of different B-scan morphologies and their association with clinical features and outcomes.

Design: Cohort study of patients enrolled in the Prospective Ocular Tumor Study from January 2000 to January 2024 initially seen at Mayo Clinic Rochester.

Participants: Consecutive inclusion of patients with posterior uveal melanoma.

Methods: B-scan ultrasounds were performed by an experienced technician and treatment modalities were implemented by the attending oncologist.

Main outcomes and measures: Tumors were classified by shape as observed on B-scan. Enucleation-, metastasis, -and overall survival (EFS, MTS, and OS) rates were analyzed using Cox-regression models and Kaplan-Meier curves.

Results: Among 1021 cases of uveal melanoma, 739 (72.4%) were dome-shaped, 119 (11.7%) mushroom-shaped, 85 (8.3%) multilobulated, 77 (7.5%) minimally elevated, and 1 (0.1%) diffuse. The median follow-up duration after presentation was 37 months (3-324). The macula was more commonly involved in minimally elevated tumors compared to the other groups (63.6% vs. 13.8%, p<0.001). These tumors also exhibited a larger proportion of high internal reflectivity (13% vs. 2.3%, p<0.001). The multilobulated group exhibited a significantly larger diameter at baseline (median 15 mm, IQR 6.1-30), whereas the mushroom-shaped group had greater thickness (median 7.9 mm, IQR 1.3 - 17.3) compared to the other groups (p<0.001). EFS at 36 months was lower for mushroom-shaped [60.1% (95% CI, 47.7-70.3)] and multilobulated tumors [71.1% (95% CI, 55.7-82.7)]. At 36 months, multilobulated tumors had lower MFS [68.2% (95%, CI 55-78.2)] and OS [73.9% (95%, CI 59.9-83.64)]. On multivariate analysis adjusted for tumor thickness and diameter, multilobulated melanomas had a higher risk of metastasis (HR 2.08, p=0.003) and death (HR 2.38, p<0.001).

Conclusion: Choroidal melanoma configuration by B-scan can vary from minimally elevated to dome-shaped to mushroom-shaped or multilobulated. Independent of presenting tumor size, multilobulated morphology was identified as a predictor for metastasis and death. Multilobulated melanomas, identified by a readily available tool such as ultrasonography, warrant a vigilant approach and close monitoring due to a potential association with poor prognosis.

Purpose: To investigate the myopic macular neovascularization (mMNV) features on dynamic video-color optical coherence tomography (OCT) angiography (OCTA) and the diagnostic rate versus the static, four-segmentations visualization mode.

Design: Retrospective cohort study PARTICIPANTS: Fifty-four patients with mMNV METHODS: Sixty-two eyes with high myopia complicated by mMNV were included. Clinical charts, fluorescein angiography and structural OCT were used as standard reference to assess lesion activity. Static and video-color OCTA were then analysed and compared by two independent reviewers.

Main outcome measures: Morphology description of mMNV on video-color OCTA and differences in the proportion of diagnosis between video-colour and static OCTA.

Results: 62 eyes from 54 patients (mean age 63,22 years) were enrolled. Thirty-four (55%) mMNV were active and 28 (45%) inactive. Twenty-two (65%) active mMNV presented on video-color OCTA as an interlacing vascular network in the outer retina and the choriocapillaris. A tapered form was the prevalent size (72,7%). In 3 eyes (9%) an abnormal and irregular vascular network (AVN) was disclosed and in 5 (15%) only some blood flow alteration. All the lesions extended both in the outer retinal and the choriocapillaris. Eleven (39%) inactive mMNV presented on video-color OCTA as an interlacing vascular network too, in the outer retina and the choriocapillaris. Eight (29%) had some AVN and 6 (21%) only some blood flow alteration. The diagnostic rate of video-color vs static OCTA was 95% (IC 95% 86% to 99%) vs 77% (IC 95% 86% to 99%, p= 0.0009), and shows an advantage in favour of video-colour OCTA of 15% (CI 95%, 3%-27%) and 22% (CI 95%, 7%-38%) in active and inactive lesions, respectively (p<0.026). Lesion extension within both the outer retina and the choriocapillaris was present in 90% and 69% of cases on dynamic OCTA and static OCTA, respectively, with a proportion difference of 20% (CI 95%, 10%-31%, p= 0.0005). Concordance between the two examiners was high: 0.95 (95%, CI 0.88 to 1.00) and 0.96 (0.91 to 1.00) for active and inactive lesions, respectively.

Conclusions: Video color-enhanced OCTA may help in diagnosing mMNV and should be considered by clinicians in addition to structural OCT and static OCTA.

Purpose: To assess the correlation between genotype and phenotype severity in X-linked juvenile retinoschisis (XLRS) by examining clinical and genetic features of a cohort of Korean XLRS patients.

Design: Retrospective, observational study.

Participants: Data from 83 consecutive male patients with molecularly confirmed XLRS were collected retrospectively.

Methods: Clinical evaluation included best-corrected visual acuity (BCVA), fundus photography, spectral domain OCT (SD-OCT), and full-field electroretinography (ERG).

Main outcome measures: The phenotypic characteristics of a cohort of pediatric Korean patients with XLRS, based on mutation types (truncating vs. missense) and secretory profile (secretion vs. nonsecretion), were assessed.

Results: A total of 166 eyes of 83 patients were included. The mean age at diagnosis was 6.1 ± 8.8 years (range, 0.5-20.7 years), with a mean follow-up time of 9.2 ± 7.0 years (range, 0.6-24.3 years). The BCVA at first and last examination ranged from light perception to 0.1 logarithm of the minimum angle of resolution (mean ± standard deviation, 0.75 ± 0.59 and 0.82 ± 0.65, respectively). No significant differences were observed between the truncating (0.71 ± 0.51 and 0.75 ± 0.44) and missense (0.77 ± 0.59 and 0.84 ± 0.66) variants (P = 0.678 and 0.551). Clinical parameters from fundus photography, SD-OCT, and ERG showed no differences. However, BCVA was better for the secretion group (0.51 ± 0.24 and 0.61 ± 0.30) than for the nonsecretion group (0.65 ± 0.71 and 0.87 ± 0.81), with a significant difference in the last BCVA (P = 0.021). OCT revealed a higher frequency of ellipsoid zone disruption in the nonsecretion group (P = 0.030), with no significant differences in other parameters.

Conclusions: The secretion profile of Retinoschisin 1 (RS1) could influence the severity of XLRS phenotypes. Patients with RS1-secreted mutants, particularly with intact octamerization, exhibit more homogeneous phenotypes and better visual acuity than the RS1-nonsecreted group. This data provide insights for studying genotype and phenotype correlations in both clinical and research fields.

Financial disclosure(s): The authors have no proprietary or commercial interest in any materials discussed in this article.

Purpose: To evaluate the very long-term functional and structural outcomes of internal limiting membrane (ILM) peeling for full-thickness macular holes (FTMH).

Design: Observational case series nested within a multicenter, randomized, controlled clinical trial (RCT) (ClinicalTrials.gov: NCT00190190).

Subjects: Patients who underwent vitrectomy with or without ILM peeling for an idiopathic large FTMH in a tertiary ophthalmology center, with a minimum follow-up of 10 years after surgery.

Methods: Review of charts, spectral-domain OCT (SD-OCT) scans, OCT angiography (OCTA) scans, and microperimetry of patients originally enrolled in the RCT.

Main outcome measures: Primary outcome was functional assessment in both groups (ILM peeling or not) including the retinal sensitivity (RS), distance and near best-corrected visual acuity (BCVA), and number of eyes achieving ≥0.3 logarithm of the minimum angle of resolution >10 years after surgery. Secondary outcomes were structural assessment in the entire 3 × 3-mm and 6 × 6-mm areas, and regionally in the different areas of the ETDRS grid: OCT and OCTA biomarkers in both groups and fellow eyes.

Results: Thirteen eyes of 13 patients with a mean follow-up of 12 ± 0.73 years were included. The mean RS and BCVA, or visual improvement did not differ between ILM peeling (n = 8) and no peeling (n = 5) (all P > 0.05). The dissociated optic nerve fiber layers on en face OCT were only observed in eyes with ILM peeling, predominantly in temporal parafoveal (20%) and perifoveal (19%) rings. The mean total retinal thickness and inner retinal thickness in the parafoveal ring were significantly lower in peeled eyes (309 ± 11 μm and 94 ± 9 μm respectively) versus nonpeeled eyes (330 ± 21 μm and 108 ± 11 μm respectively; P = 0.037 and P = 0.040), without significant difference in ganglion cell or retinal nerve fiber layers. Accordingly, the mean superficial capillary plexus density in the parafoveal ring was significantly lower in eyes with peeling versus without (39.65 ± 3.76 % versus 47.22 ± 4.00; P = 0.005). The mean foveal avascular zone area was smaller in eyes with peeling versus without (0.24 ± 0.05 mm² vs. 0.42 ± 0.13 mm², respectively, P = 0.005).

Conclusions: Despite persistent structural changes especially in the parafoveal ring, ILM peeling for idiopathic large FTMH did not seem to impact long-term RS or BCVA over 12 years.

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