Retina-The Journal of Retinal and Vitreous Diseases最新文献

Purpose: To compare two drainage techniques in macula-off retinal detachment (RD) surgery: perfluorocarbon liquid (PFCL)-assisted drainage and partial subretinal fluid (SRF) drainage without PFCL. We investigated morphological and functional outcomes, focusing on metamorphopsia quantification.

Methods: Eighty eyes with macula-off RD were retrospectively included. All underwent a 25-gauge pars plana vitrectomy. In the PFCL group, SRF drainage was performed using PFCL. In the partial SRF drainage (SRFD) group, SRF was partially drained through a pre-existing retinal break without PFCL. A follow-up at 3 and 6 months evaluated anatomical outcomes using optical coherence tomography (OCT), best corrected visual acuity (BCVA) and metamorphopsia quantified with M-charts.

Results: Reattachment rates were comparable in the PFCL group (97.5%) and the SRFD group (95%) (p > 0.05). Mean BCVA (LogMAR) was 0.23 ± 0.32 (PFCL group) and 0.15 ± 0.13 (SRFD group) (p = 0.206). Metamorphopsia were reported by 19 patients (47.5%) in the PFCL group and by 12 patients (30%) in the SRFD group (p = 0.332). The mean metamorphopsia score was similar in both groups (0.27 ± 0.12 in the PFCL group and 0.28 ± 0.11 in the SRFD group, p = 0.866). Morphological OCT findings were comparable in both groups.

Conclusion: Morphological and functional outcomes were similar in PFCL and SRFD groups. Metamorphopsia quantification scores did not improve with PFCL. While both of these techniques might be effective and could be recommended for primary macula-off RD management, potential PFCL toxicity should be kept in mind and its use dedicated to selected cases.

Purpose: To report a novel optical coherence tomography (OCT) sign in the context of CRB1-related maculopathy, termed outer retinal columnar abnormalities (ORCA).

Methods: Retrospective, multicenter observational case series of 14 eyes of 8 patients with molecularly confirmed CRB1-related maculopathy and ORCA. Multimodal imaging scans and medical records patients with CRB1-related maculopathy were reviewed. Outcome measures included best-corrected visual acuity (BCVA), central subfield thickness on spectral-domain OCT (SD-OCT), presence of ORCAs and analysis of their change in appearance over time.

Results: At baseline, mean age was 18 +/- 10 years (range 9-36). All patients had an isolated macular dystrophy except for 1 case harboring a triallelic pathogenic variant. Variant c.498_506del was found in 9 cases (88%). At presentation, ORCA were visible on macular SD-OCT in all cases as multiform, vertical hyperreflective columnar alterations extending from the ellipsoid to the outer plexiform layer, with a variable degree of hyporeflective cystic spaces in the outer and inner nuclear layers. Over 6 +/- 4.7 follow-up years, the presence of ORCA varied greatly with a decrease in ORCA associated with sequential development of retinal atrophy.

Conclusions: A high suspicion for CRB1-associated retinal dystrophy should arise in the presence of ORCA on SD-OCT, prompting genetic testing.

Purpose: Circulating tumor DNA (ctDNA) in plasma has been identified in many cancers, including retinoblastoma at diagnosis. We have previously shown that with treatment (enucleation or ophthalmic artery chemosurgery (OAC)) all ctDNA disappears; and if there is persistent plasma ctDNA after treatment metastases develop. The purpose of this study was to determine how the ctDNA RB1 variant allele frequency (VAF) changes in patients with retinoblastoma who have delayed treatment.

Methods: Circulating tumor DNA RB1 was detected and VAF was measured at diagnosis and again prior to any intervention at some time later ranging from 2 to 28 days.

Results: Four patients with five ctDNA RB1 mutations were detected at diagnosis and VAF was increased on re-evaluation of the same RB1 mutations in ctDNA.

Conclusion: In this small cohort, every patient (4) and every RB1 mutation (5) plasma level VAF% increased when measured at two time periods before treatment was instituted suggesting that growing tumors demonstrate increasing plasma ctDNA.

Background: The traditional suturing method for cyclodialysis cleft usually requires an incision in the sclera for direct suturing, resulting in greater damage and a high risk of postoperative complications. The purpose of this work is to propose a newly intrascleral double continuous suture repair technique for the treatment of cyclodialysis clefts.

Methods: Seven patients with cyclodialysis cleft underwent microinvasive intrascleral double continuous suture repair surgery to restore the attachment of the detached ciliary body to the sclera without scleral incision. All operations were performed by the same surgeon. Preoperative and postoperative visual acuity (VA), intraocular pressure (IOP), slit lamp and corneal examination results, ultrasound biomicroscopy (UBM) and optical coherence tomography (OCT) results were recorded.

Results: Closure of the cyclodialysis cleft was achieved in 7 eyes and no obvious complications occurred after the operation. Intraocular pressure increased from preoperatively 6.8 ± 1.35 mmHg (range: 4.8-8.0 mmHg) to postoperatively 12.5 ± 4.0 mmHg (range: 8.0-20.0 mmHg) (paired sample T test, P < 0.01). Best-corrected Snellen visual acuity improved from preoperatively range 20/2000-20/63 to range 20/200-20/25 at final follow-up.

Conclusion: In short, intrascleral double continuous suture repair surgical is safe and effective in treating cyclodialysis cleft, with minimal surgical trauma.

Purpose: This retrospective case series aimed to assess the concordance between clinical diagnoses of punctate inner choroidopathy (PIC) and multifocal choroiditis and panuveitis (MCP) using the 2021 Standardization of Uveitis Nomenclature (SUN) Working Group criteria.

Methods: Using the medical records of the patients, we reevaluated 100 eyes of 75 patients with idiopathic multifocal chorioretinal inflammatory lesions based on SUN criteria and compared the result to the clinical diagnosis.

Results: Of 100 eyes, 29 eyes (29%) were diagnosed as PIC and 15 eyes (15%) were diagnosed as MCP using SUN criteria, and 56 (56%) eyes could not be diagnosed as either. Clinically diagnosed PIC eyes were significantly more myopic than the clinically diagnosed MCP eyes (mean spherical equivalent -6.65 ± 4.63 vs. -3.85 ± 2.31, P = 0.01). Sixteen eyes with vitreous inflammation were all clinically diagnosed as MCP, but four (25%) could not be diagnosed as MCP using SUN criteria.

Conclusions: The existing diagnostic criteria showed limitations in capturing all clinical cases of PIC or MCP, and adding or revising criteria on features such as vitreous inflammation or myopia, could be considered to enhance diagnostic accuracy.

Purpose: Achromatopsia (ACHM) is a genetically heterogenous relatively stationary congenital autosomal recessive cone disorder characterized typically by photophobia, low vision, nystagmus, hyperopia, grossly normal retinal appearance, and absent photopic responses by full-field electroretinography. Incomplete forms occur as well. This study investigates the genetic basis of clinically-suspected ACHM in the United Arab Emirates.

Methods: Retrospective case series (January 2016-December 2023) of patients with (1) clinically-suspected ACHM and (2) mutations in ACHM-associated genes (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, AT6).

Results: Twenty-two clinically-suspected patients (19 probands) were identified. Biallelic disease genes and number of probands were CNGA3 (9), CNGB3 (6), PDE6C (1), GNAT2 (1), RGS9BP (1), and CNNM4 (1). Two probands had their diagnoses revised after genetic testing and phenotypic reassessment to RGS9BP-related bradyopsia and CNNM4-related Jalili syndrome. Three additional cases (making 22 total probands) were identified from ACHM gene mutation review - one each related to PDE6C, to AT6, and to CNGB3 in concert with CNGA3 (triallelic disease). All three presented with macular discoloration, an atypical finding for classic ACHM.

Conclusion: CNGA3 was the single most frequent implicated gene. Bradyopsia and Jalili syndrome can resemble incomplete ACHM. Macular discoloration on presentation can occur in PDE6C-related disease, AT6-related disease, and triallelic CNGB3/CNGA3-related disease. The possibility for triallelic disease exists and requires genetic counseling beyond that of simple autosomal recessive inheritance.

Purpose: To analyze the pathophysiology of epiretinal membrane foveoschisis (ERM-FS) by evaluating the longitudinal changes in visual function and several optical coherence tomography (OCT) parameters.

Methods: The medical records of 33 consecutive patients (35 eyes) with untreated ERM-FS were retrospectively reviewed. Best-corrected visual acuity (BCVA), M-CHARTS score, and OCT parameters including ERM area, maximum depth of retinal folds (MDRF), FS area, and FS circularity were evaluated.

Results: A wide range of FS area changes was observed at the final follow-up visit (59.68-240.45% of the baseline FS area). In the FS enlargement group, BCVA and mean M-CHARTS scores significantly worsened and MDRF significantly increased over time, whereas in the FS non-enlargement group, no significant change was observed in BCVA, mean M-CHARTS scores, or MDRF during the follow-up period. Multivariate logistic regression analyses revealed that MDRF (odds ratio: 1.05, 95% confidence interval: 1.00-1.10, P = 0.048) and FS circularity (odds ratio: 0.91, 95% confidence interval: 0.83-1.00, P = 0.043) were significantly associated with FS enlargement.

Conclusion: ERM-FS encompasses diverse pathophysiologies. Since visual functions do not worsen in some cases, monitoring the changes in visual functions and retinal morphology over time is recommended to determine surgical indications.

Purpose: To compare outcomes in inferior rhegmatogenous retinal detachment (RRD) repair using pars plana vitrectomy (PPV) or PPV with scleral buckle (PPV-SB).

Methods: Patients operated for inferior RRD at a tertiary care center between 2014 and 2018 were included. Inferior RRD was defined as retinal detachment with tears between 4:00 and 8:00 clock hours in detached retina. Non-RRD etiologies (e.g., traumatic, tractional), proliferative vitreoretinopathy (PVR) grade ≥C2, and silicone oil use were excluded. Single surgery anatomic success (SSAS) was defined as absence of reoperation for recurrent RRD during follow-up.

Results: There were 366 patients included of which 260 (71%) were operated using PPV-SB. SSAS was achieved in 96 (91%) of PPV patients and 227 (87%) of PPV-SB patients (p=0.38) over a median follow-up of 15 months. At final follow-up, PHVA was 0.18 [0.10, 0.30] among PPV patients and 0.18 [0.10, 0.40] among PPV-SB (Snellen equivalent: 20/30; p=0.03). After adjusting for demographic (i.e., age and sex) and preoperative characteristics (i.e., macula on status, baseline PHVA, and grade C1 PVR), PPV-SB did not alter SSAS (p=0.210).

Conclusions: Following inferior RRD repair, there were no significant differences in SSAS between patients undergoing PPV and PPV-SB in this large, retrospective cohort.