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1.
Genes (Basel) ; 15(6)2024 Jun 18.
Article in English | MEDLINE | ID: mdl-38927740

ABSTRACT

Retinitis pigmentosa (RP) is a heterogeneous inherited retinal disorder. Mutations in KIZ cause autosomal recessive (AR) RP. We aimed to characterize the genotype, expression pattern, and phenotype in a large cohort of KIZ cases. Sanger and whole exome sequencing were used to identify the KIZ variants. Medical records were reviewed and analyzed. Thirty-one patients with biallelic KIZ mutations were identified: 28 homozygous for c.226C>T (p.R76*), 2 compound heterozygous for p.R76* and c.3G>A (p.M1?), and one homozygous for c.247C>T (p.R83*). c.226C>T is a founder mutation among patients of Jewish descent. The clinical parameters were less severe in KIZ compared to DHDDS and FAM161A cases. RT-PCR analysis in fibroblast cells revealed the presence of four different transcripts in both WT and mutant samples with a lower percentage of the WT transcript in patients. Sequence analysis identified an exonic sequence enhancer (ESE) that includes the c.226 position which is affected by the mutation. KIZ mutations are an uncommon cause of IRD worldwide but are not rare among Ashkenazi Jews. Our data indicate that p.R76* affect an ESE which in turn results in the pronounced skipping of exon 3. Therefore, RNA-based therapies might show low efficacy since the mutant transcripts are spliced.


Subject(s)
Mutation , Retinitis Pigmentosa , Humans , Retinitis Pigmentosa/genetics , Retinitis Pigmentosa/pathology , Female , Male , Adult , Jews/genetics , Exome Sequencing/methods , Pedigree , Eye Proteins/genetics , Phenotype , Middle Aged , Adolescent
2.
Eur J Ophthalmol ; : 11206721241259145, 2024 May 29.
Article in English | MEDLINE | ID: mdl-38809679

ABSTRACT

PURPOSE: This study aims to describe the ocular manifestations, treatment, and prognosis of OPMD patients registered in the national Israel OPMD(IsrOPMD) registry. METHODS: Data was prospectively collected from patients referred to the IsrOPMD registry from January 2022 to March 2023. This included patient demographics, medical and ocular history, eye exams, eyelid evaluations, visual field exams, and orthoptic evaluations. RESULTS: 30 patients (15 males, mean age 53 years) were treated in the ocular OPMD clinic, predominantly of Bukhari descent (86.6%). The mean visual acuity was 0.06 logMAR. Twenty-one patients (70%) had eye movement problem, mostly in horizontal gaze. 6(20%) patients' complaint about diplopia. Ptosis surgery was performed in 21(70%) patients, with 17(56.7%) patients underwent frontalis sling surgery and 4(13.3%) patients undergoing levator advancement. The mean Margin reflex distance (MRD1) improved post-surgery (2.28 mm vs. 1.58 mm), but 11(36.6%) patients required more than one ptosis surgery. CONCLUSIONS: The study contributes valuable insights into the ocular aspects of OPMD. It reveals that OPMD patients often experience a range of ocular symptoms, such as ptosis, abnormalities in eye movements, strabismus, and potentially diplopia, which can significantly impact their quality of life. The findings underscore the importance of regular ophthalmological follow-up for these patients to address these symptoms effectively. The study is significant in contributing to the limited but growing knowledge about the ocular manifestations of OPMD and the management of these symptoms to improve the quality of life for patients suffering from this condition.

3.
JAMA Ophthalmol ; 2024 May 16.
Article in English | MEDLINE | ID: mdl-38753338

ABSTRACT

Importance: Data regarding the prevalence of various inherited retinal diseases (IRDs) are limited and vary across populations; moreover, nationwide prevalence studies may be limited to a specific IRD phenotype, potentially leading to inaccurate prevalence estimations. Therefore, nationwide prevalence data are needed. Objective: To determine the prevalence of 67 IRD phenotypes in the Israeli population. Design, Setting, and Participants: This cohort study collected nationwide data regarding the number of individuals affected with IRD phenotypes assessed in 10 clinical and academic centers in Israel as part of the research activity of the Israeli inherited retinal disease consortium. Data were collected in May 2023 on 9396 individuals residing in Israel who were diagnosed by an ophthalmologist with an IRD using either electroretinography or retinal imaging where included. Individuals with retinal diseases known to have a nonmendelian basis or without a clear genetic basis and those who were reported as deceased at the time of data collection were excluded from this study. Main Outcomes and Measures: Prevalence of 67 IRD phenotypes. Results: Among the 9396 participants in our cohort, the most common IRD in Israel was retinitis pigmentosa with a disease prevalence of approximately 1:2400 individuals, followed by cone-rod dystrophy (approximately 1:14 000), Stargardt disease (approximately 1:16 000), Usher syndrome (approximately 1:16,000), and congenital stationary night blindness (approximately 1:18 000). The prevalence of all IRDs combined was 1:1043 individuals. Conclusions and Relevance: The current study provides large prevalence dataset of 67 IRD phenotypes, some of which are extremely rare, with only a single identified case. This analysis highlights the potential importance of performing additional nationwide prevalence studies to potentially assist with determining the prevalence of IRDs worldwide.

4.
Eur J Ophthalmol ; : 11206721241247445, 2024 Apr 11.
Article in English | MEDLINE | ID: mdl-38602022

ABSTRACT

PURPOSE: To report a case of non-arteritic anterior ischemic optic neuropathy (NAION) in an elderly patient with ischemia of the left splenium of the corpus callosum, providing details of the diagnostic work-up and subsequent follow-up. METHODS SECTION: Case report. RESULTS: A pseudophakic 80 years-old woman referred complaining sudden visual impairment in the left eye (LE) in concomitance with episode of hypertensive crisis. Fundus examination showed diffuse swelling of optic disc associated with flame peripapillary hemorrhages in LE and small crowded disc in right eye (RE). A superior altitudinal defect with arcuate defect including the blind spot were detected at the visual field in the LE. The patient was diagnosed with NAION. Five days later the patient complained a further vision loss and a pathological area within the left splenium of corpus callosum, consistent ischemia, was depicted at magnetic resonance imaging of brain. Corpus callosum infarction was completely asymptomatic and neurological evaluation was normal. At 45 days follow-up fundus examination showed white ischemic nerve while visual field was irreversibly constricted with tubular defect in LE. CONCLUSION: In case of NAION linked with corpus callosum ischemia multimodal imaging and systemic work-up play a pivotal role for an early diagnosis.

6.
Retina ; 2024 Mar 12.
Article in English | MEDLINE | ID: mdl-38471038

ABSTRACT

PURPOSE: To explore visual acuity (VA) outcomes of anti-vascular endothelial growth factor (VEGF) intravitreal injections in treatment-naive eyes with diabetic macular edema (DME), with bevacizumab as first-line treatment. METHODS: Retrospective single-center cohort study over a three-year follow-up. 1765 eyes from 1179 patients treated with intravitreal injections were evaluated. The cohort was divided according to the treatment given: (1) bevacizumab monotherapy, (2) eyes switched to 2nd line agent, and (3) eyes switched to a 3rd line agent. RESULTS: 644 eyes of 444 patients met inclusion criteria. Mean age at presentation was 64.0±11.1 years. Mean follow-up period was 24.6±12.4 months. 67.1% of eyes were treated with bevacizumab monotherapy, 25.45% switched to a 2nd line agent, and 7.45% were switched to a 3rd line agent. Mean number of injections decreased significantly during each treatment year in the total cohort and within each treatment group (P<0.001). Mean VA for the total cohort and within each treatment group improved significantly throughout follow-up (P<0.001). No significant difference in VA found between the groups (P=0.373). CONCLUSIONS: This real-world study demonstrates robust and consistent VA gains over long-term follow-up in eyes with DME treated with either bevacizumab monotherapy or switching to alternative anti-VEGF agents in cases of suboptimal response.

7.
Invest Ophthalmol Vis Sci ; 65(2): 39, 2024 Feb 01.
Article in English | MEDLINE | ID: mdl-38411968

ABSTRACT

Purpose: To review all reported disease-causing mutations in BEST1, perform genotype-phenotype correlation, and estimate disease prevalence in the Israeli population. Methods: Medical records of patients diagnosed with Best disease and allied diseases from nine Israeli medical centers over the past 20 years were collected, as were clinical data including ocular findings, electrophysiology results, and retina imaging. Mutation detection involved mainly whole exome sequencing and candidate gene analysis. Demographic data were obtained from the Israeli Bureau of Statistics (January 2023). A bibliometric study was also conducted to gather mutation data from online sources. Results: A total of 134 patients were clinically diagnosed with Best disease and related conditions. The estimated prevalence of Best disease was calculated to be 1 in 127,000, with higher rates among Arab Muslims (1 in 76,000) than Jews (1 in 145,000). Genetic causes were identified in 76 individuals (57%), primarily showing autosomal-dominant inheritance due to BEST1 mutations (58 patients). Critical conserved domains were identified consisting of a high percentage of dominant missense mutations, primarily in transmembrane domains and the intracellular region (Ca2+ binding domain) of the BEST1 protein. Conclusions: This study represents the largest cohort of patients with Best disease reported in Israel and globally. The prevalence in Israel is akin to that in Denmark but is lower than that in the United States. Critical conserved domains within the BEST1 protein are pivotal for normal functioning, and even minor missense alterations in these areas lead to a dominant disease manifestation. Genetic testing is indispensable as the gold standard for Best disease diagnosis due to the variable clinical presentation of the disease.


Subject(s)
Vitelliform Macular Dystrophy , Humans , Israel/epidemiology , Prevalence , Mutation , Genetic Association Studies , Bestrophins
8.
Br J Ophthalmol ; 108(6): 773-778, 2024 May 21.
Article in English | MEDLINE | ID: mdl-38290804

ABSTRACT

Geographic atrophy (GA) is an advanced and irreversible form of age-related macular degeneration (AMD). Chronic low grade inflammation is thought to act as an initiator of this degenerative process, resulting in loss of photoreceptors (PRs), retinal pigment epithelium (RPE) and the underlying choriocapillaris. This review examined the challenges of clinical trials to date which have sought to treat GA, with particular reference to the successful outcome of C3 complement inhibition. Currently, optical coherence tomography (OCT) seems to be the most suitable method to detect GA and monitor the effect of treatment. In addition, the merits of using novel anatomical endpoints in detecting GA expansion are discussed. Although best-corrected visual acuity is commonly used to monitor disease in GA, other tests to determine visual function are explored. Although not widely available, microperimetry enables quantification of retinal sensitivity (RS) and macular fixation behaviour related to fundus characteristics. There is a spatial correlation between OCT/fundus autofluorescence evaluation of PR damage outside the area of RPE loss and RS on microperimetry, showing important associations with visual function. Standardisation of testing by microperimetry is necessary to enable this modality to detect AMD progression. Artificial intelligence (AI) analysis has shown PR layers integrity precedes and exceeds GA loss. Loss of the ellipsoid zone has been recognised as a primary outcome parameter in therapeutic trials for GA. The integrity of the PR layers imaged by OCT at baseline has been shown to be an important prognostic indicator. AI has the potential to be invaluable in personalising care and justifying treatment intervention.


Subject(s)
Geographic Atrophy , Tomography, Optical Coherence , Visual Acuity , Humans , Geographic Atrophy/physiopathology , Geographic Atrophy/diagnosis , Geographic Atrophy/diagnostic imaging , Tomography, Optical Coherence/methods , Visual Acuity/physiology , Retinal Pigment Epithelium/pathology , Retinal Pigment Epithelium/diagnostic imaging , Retinal Pigment Epithelium/physiopathology , Fluorescein Angiography/methods , Visual Field Tests
9.
Am J Hum Genet ; 111(2): 393-402, 2024 Feb 01.
Article in English | MEDLINE | ID: mdl-38272031

ABSTRACT

Sterile alpha motif domain containing 7 (SAMD7) is a component of the Polycomb repressive complex 1, which inhibits transcription of many genes, including those activated by the transcription factor Cone-Rod Homeobox (CRX). Here we report bi-allelic mutations in SAMD7 as a cause of autosomal-recessive macular dystrophy with or without cone dysfunction. Four of these mutations affect splicing, while another mutation is a missense variant that alters the repressive effect of SAMD7 on CRX-dependent promoter activity, as shown by in vitro assays. Immunostaining of human retinal sections revealed that SAMD7 is localized in the nuclei of both rods and cones, as well as in those of cells belonging to the inner nuclear layer. These results place SAMD7 as a gene crucial for human retinal function and demonstrate a significant difference in the role of SAMD7 between the human and the mouse retina.


Subject(s)
Eye Abnormalities , Macular Degeneration , Mice , Animals , Humans , Trans-Activators/genetics , Homeodomain Proteins/genetics , Retina , Mutation/genetics , Macular Degeneration/genetics
10.
Eye (Lond) ; 38(5): 964-967, 2024 Apr.
Article in English | MEDLINE | ID: mdl-37925559

ABSTRACT

PURPOSE: To analyse the gender-specific differences in central serous chorioretinopathy (CSCR) based on a new multimodal imaging classification system. METHOD: This was a retrospective, multicentric, longitudinal, observational study in patients with a diagnosis of unilateral or bilateral CSCR. Visual acuity outcomes and differences based on 'Simple' and 'Complex' CSCR were analysed. The occurrence of choroidal neovascularization (CNVM) and number of recurrences were also compared. Regression analysis was used to evaluate baseline predictors of final visual acuity. RESULTS: The study included 109 eyes of 58 patients (55 eyes of 28 female patients and 54 eyes of 30 male patients). Simple CSCR was seen in 8 (14.8%) eyes and 21 (38.2%) eyes in male and female groups respectively, while complex CSCR was seen in 46 (85.2%) eyes and 34 (61.8%) eyes in male and female groups respectively (p = 0.005). Recurrence was more commonly seen in males (34 eyes) than in females (23 eyes) (p = 0.03). Males (96.7%) were also significantly more likely to have a bilateral presentation (78.6% in females) (p = 0.03). Conversely, CNVM was more commonly seen in female eyes (8 eyes) than male eyes (4 eyes) (p = 0.23). On multivariable regression analysis, factors affecting reduced need for treatment were history of steroid use, good visual acuity at baseline, and simple CSCR. Factors affecting good final visual acuity were history of steroid use, good visual acuity at baseline, and younger age. CONCLUSION: Males tended to have complex CSCR and recurrence compared to the female sub-group, while females exhibited CNVM more commonly than males.


Subject(s)
Central Serous Chorioretinopathy , Choroidal Neovascularization , Humans , Male , Female , Central Serous Chorioretinopathy/diagnosis , Retrospective Studies , Sex Factors , Fluorescein Angiography/methods , Tomography, Optical Coherence/methods , Steroids
11.
Retina ; 44(1): 136-143, 2024 Jan 01.
Article in English | MEDLINE | ID: mdl-37748439

ABSTRACT

PURPOSE: To investigate eyes with polypoidal lesions associated with choroidal nevi, their multimodal imaging characteristics, and long clinical follow-up. METHODS: Multicenter, retrospective case series study of patients with polypoidal lesions overlying choroidal nevi. Demographic and clinical information were recorded. Multimodal imaging including color fundus photography, optical coherence tomography, optical coherence tomography angiography, fundus fluorescein angiography, indocyanine angiography, and A- and B-scan ultrasonography were analyzed for nevus and polypoidal lesion characteristics. RESULTS: Fourteen eyes (14 patients; mean age: 70.3 ± 6.7 years) with polypoidal lesions overlying choroidal nevi were included. The mean follow-up duration was 50.0 ± 27.9 months (range 12-108). All nevi were pigmented on color fundus photography, flat on ultrasonography with a mean basal diameter of 3.8 ± 0.4 mm. In all but one eye, optical coherence tomography showed a shallow irregular pigment epithelium detachment overlying the nevus. A total of 11/14 eyes (78.6%) had exudative activity, 9 eyes received intravitreal anti-vascular endothelial growth factor injections, and one eye required intravitreal anti-vascular endothelial growth factor combined with photodynamic therapy. Mean visual acuity was 20/32 at baseline and 20/50 at final visit. CONCLUSION: We present the largest known cohort of eyes with polypoidal lesions associated with choroidal nevi with up to 9 years follow-up. The exudative degree of the polypoidal lesion in this condition is variable and treatment decisions should be taken on an individual basis. We hypothesize that choroidal ischemia because of altered choroidal vasculature rather than Haller layer hyperpermeability plays a role in the formation of polypoidal lesions overlying nevi.


Subject(s)
Choroid Diseases , Choroid Neoplasms , Nevus , Polyps , Humans , Middle Aged , Aged , Retrospective Studies , Endothelial Growth Factors , Choroid Diseases/drug therapy , Choroid/pathology , Choroid Neoplasms/pathology , Tomography, Optical Coherence/methods , Fluorescein Angiography/methods , Polyps/drug therapy , Intravitreal Injections
12.
Acta Ophthalmol ; 101(8): 891-895, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37933605

ABSTRACT

This review covers advancements in geographic atrophy (GA) research. It discusses genetic contributions to AMD, explores treatment strategies, including complement inhibition, and highlights recent FDA approvals, safety concerns and promising future directions.


Subject(s)
Geographic Atrophy , Macular Degeneration , Humans , Macular Degeneration/genetics
13.
Surv Ophthalmol ; 2023 Nov 26.
Article in English | MEDLINE | ID: mdl-38016521

ABSTRACT

Intraretinal or subretinal fluid in the peripapillary area can be clinically visualized in conditions such as peripapillary choroidal neovascularization, optic disc pit maculopathy, and optic nerve head tumors and granulomas. Optical coherence tomography (OCT) helps to visualize peripapillary fluid in many other chorioretinal conditions such as peripapillary pachychoroid syndrome, posterior uveitis, central retinal vein occlusion, malignant hypertension, hypotonic maculopathy as well as neuro-ophthalmological conditions such as glaucoma, microcystic macular edema and disc edema due papilledema, non-arteritic anterior ischemic optic neuropathy, neuroretinitis, and diabetic papillopathy. Often, the differential diagnosis of peripapillary fluid is a bit tricky and may lead to misdiagnosis and improper management. We describe a diagnostic algorithm for peripapillary fluid on OCT and outline the salient features and management of these conditions.

14.
Br J Ophthalmol ; 2023 Jul 14.
Article in English | MEDLINE | ID: mdl-37451830

ABSTRACT

PURPOSE: To describe the optical coherence tomography features of pachyvitelliform maculopathy (PVM), an acquired vitelliform lesion (AVL) associated with pachychoroid disease. METHODS: This study was a retrospective, multicentre, observational analysis.Medical records and multimodal imaging were reviewed in all patients with pachychoroid disease and AVL. Visual acuity, central choroidal thickness (CCT), AVL dimensions, total choroidal area, luminal choroidal area, stromal choroidal area and choroidal vascular index were measured in all eyes with PVM and compared with normal age-matched control eyes. RESULTS: Mean age of the PVM group (17 eyes of 17 patients) was 71.41 years. Average follow-up was 33.15 months. Baseline VA was 20/40 in the PVM group and declined to 20/100 (p=0.006). AVLs were all detected overlying pachyvessels with optical coherence tomography and were all hyperautofluorescent with fundus autofluorescent imaging. Mean CCT in the PVM group was significantly greater (352.35 µm) than the CCT in the control group (226.88 µm, p<0.001). Retinal pigment epithelium (RPE) disruption was present in 64.71% of eyes with PVM at baseline and 41.18% developed macular atrophy at the end of follow-up. CONCLUSIONS: PVM, defined by the presence of AVL associated with pachychoroid features, is a distinct novel entity of the pachychoroid disease spectrum. This study suggests a possible pathogenesis of RPE dysfunction secondary to a thick choroid, leading to accumulation of undigested photoreceptor outer segments and AVL. Clinicians should be aware of this common cause of vitelliform lesions and the poor visual prognosis due to the high risk of atrophy development.

15.
Mol Vis ; 29: 1-12, 2023.
Article in English | MEDLINE | ID: mdl-37287645

ABSTRACT

Purpose: This study sought to describe the phenotype frequency and genetic basis of inherited retinal diseases (IRDs) among a nationwide cohort of Israeli Jewish patients of Ethiopian ancestry. Methods: Patients' data-including demographic, clinical, and genetic information-were obtained through members of the Israeli Inherited Retinal Disease Consortium (IIRDC). Genetic analysis was performed by either Sanger sequencing for founder mutations or next-generation sequencing (targeted next-generation sequencing or whole-exome sequencing). Results: Forty-two patients (58% female) from 36 families were included, and their ages ranged from one year to 82 years. Their most common phenotypes were Stargardt disease (36%) and nonsyndromic retinitis pigmentosa (33%), while their most common mode of inheritance was autosomal recessive inheritance. Genetic diagnoses were ascertained for 72% of genetically analyzed patients. The most frequent gene involved was ABCA4. Overall, 16 distinct IRD mutations were identified, nine of which are novel. One of them, ABCA4-c.6077delT, is likely a founder mutation among the studied population. Conclusions: This study is the first to describe IRDs' phenotypic and molecular characteristics in the Ethiopian Jewish community. Most of the identified variants are rare. Our findings can help caregivers with clinical and molecular diagnosis and, we hope, enable adequate therapy in the near future.


Subject(s)
Retinal Diseases , Retinitis Pigmentosa , Female , Humans , Male , Jews/genetics , Israel/epidemiology , Pedigree , Retina , Retinitis Pigmentosa/epidemiology , Retinitis Pigmentosa/genetics , Mutation/genetics , DNA Mutational Analysis , ATP-Binding Cassette Transporters/genetics
16.
Expert Opin Biol Ther ; 23(8): 851-859, 2023.
Article in English | MEDLINE | ID: mdl-36726203

ABSTRACT

PURPOSE: To assess the awareness of biosimilar intravitreal anti-VEGF agents among retina specialists practicing in the United States (US) and Europe. METHODS: A 16-question online survey was created in English and distributed between Dec 01, 2021 and Jan 31, 2022. A total of 112 respondents (retinal physicians) from the US and Europe participated. RESULTS: The majority of the physicians (56.3%) were familiar with anti-VEGF biosimilars. A significant number of physicians needed more information (18.75%) and real world data (25%) before switching to a biosimilar. About one half of the physicians were concerned about biosimilar safety (50%), efficacy (58.9 %), immunogenicity (50%), and their efficacy with extrapolated indications (67.8 %). Retinal physicians from the US were less inclined to shift from off-label bevacizumab to biosimilar ranibizumab or on-label bevacizumab (if approved) compared to physicians from Europe (p=0.0001). Furthermore, physicians from the US were more concerned about biosimilar safety (p=0.0371) and efficacy compared to Europe (p= 0.0078). CONCLUSIONS: The Bio-USER survey revealed that while the majority of retinal physicians need additional information regarding the safety, efficacy and immunogenicity when making clinical decisions regarding their use. Retinal physicians from US are more comfortable in continuing to use off-label bevacizumab compared to physicians from Europe.


Subject(s)
Biosimilar Pharmaceuticals , Retinal Diseases , Humans , United States , Biosimilar Pharmaceuticals/adverse effects , Bevacizumab/adverse effects , Surveys and Questionnaires , Europe , Retinal Diseases/drug therapy
17.
Ophthalmol Retina ; 7(7): 586-592, 2023 Jul.
Article in English | MEDLINE | ID: mdl-36736896

ABSTRACT

PURPOSE: To investigate the association of nascent geographic atrophy (GA) preceding the development of exudative type 3 macular neovascularization (MNV) in patients with age-related macular degeneration (AMD). DESIGN: Retrospective longitudinal study. PARTICIPANTS: Patients with AMD diagnosed with treatment-naive exudative type 3 MNV in 1 or both eyes were evaluated. Inclusion criteria included serial tracked structural OCT examinations for ≥ 2 years before the detection of exudative type 3 MNV. METHODS: Clinical characteristics and retinal imaging, including structural OCT at baseline and at each follow-up examination, were analyzed. Eyes showing the presence of nascent GA during the follow-up were selected for analysis of prevalence, and clinical characteristics at the site of subsequent type 3 MNV development. MAIN OUTCOME MEASURES: Description of the prevalence and clinical characteristics of nascent GA at the site of subsequent type 3 MNV development. RESULTS: Overall, 97 eyes affected by type 3 MNV meeting inclusion criteria were analyzed. Of 97 eyes (71 patients), 22 eyes of 21 patients (mean age 82 ± 9 years) showed nascent GA preceding exudative type 3 MNV. The observed prevalence of nascent GA preceding exudative type 3 MNV was 22.7% (95% confidence interval, 14.4%-31.0%). Exudative type 3 MNV developed a mean of 9 ± 6 months after detection of nascent GA. The presence of reticular pseudodrusen in the study eye did not significantly influence the timing of exudative type 3 MNV development after the observation of nascent GA (P > 0.1 in all analyses). Reduced best-corrected visual acuity was recorded at the exudative type 3 stage in comparison with the nascent GA stage (P = 0.003). CONCLUSIONS: As nascent GA may precede the development of exudative type 3 MNV, the detection of nascent GA in eyes with AMD may warrant closer surveillance to identify early exudative type 3 MNV warranting treatment. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.


Subject(s)
Choroidal Neovascularization , Geographic Atrophy , Macular Degeneration , Humans , Aged , Aged, 80 and over , Geographic Atrophy/diagnosis , Retrospective Studies , Longitudinal Studies , Fluorescein Angiography/methods , Macular Degeneration/diagnosis , Choroidal Neovascularization/diagnosis , Choroidal Neovascularization/epidemiology , Choroidal Neovascularization/drug therapy , Fundus Oculi
18.
Graefes Arch Clin Exp Ophthalmol ; 261(7): 1883-1891, 2023 Jul.
Article in English | MEDLINE | ID: mdl-36738347

ABSTRACT

PURPOSE: The study aims to analyze the 10-year outcomes in "simple" and "complex" central serous chorioretinopathy (CSCR) and to evaluate the longitudinal changes in multifocal retinal pigment epithelium (RPE) alterations. METHODS: This was a retrospective, multicentric, longitudinal, observational study in patients with a diagnosis of CSCR. Visual acuity outcomes and recurrence characteristics of simple and complex were analyzed. Changes in number of foci of RPE alterations from baseline to last visit were evaluated. RESULTS: Out of 235 eyes screened, the study included 67 eyes of 39 patients (32 males and 7 females) with CSCR (12 simple and 55 complex CSCR). A total of 17 (29.9%) eyes had a unifocal RPE alteration, while the remaining 50 had multifocal RPE alterations at baseline. In eyes with complex CSCR, the 10-year visual acuity was significantly worse (p < 0.001), more number of eyes required treatment (p = 0.03), higher number of RPE alterations were present at baseline and last follow-up (p < 0.001 for both), and number of recurrences were higher (p < 0.001), than simple CSCR. Focal collections of RPE alterations and leakage site corresponded to mid-phase hyper-fluorescent plaques (MPHP) in all eyes. On multivariate regression analysis, a larger area of RPE alteration was associated with a worser 10-year visual acuity (p = 0.004) and complex CSCR was associated with higher number of recurrence (p = 0.005). CONCLUSION: A different course of disease progression was seen in simple and complex CSCR. An evolution in foci of RPE alterations was seen, from a simple area of MPHP, to focal RPE alterations and finally to leakage.


Subject(s)
Central Serous Chorioretinopathy , Male , Female , Humans , Central Serous Chorioretinopathy/diagnosis , Retinal Pigment Epithelium , Retrospective Studies , Follow-Up Studies , Tomography, Optical Coherence , Fluorescein Angiography
19.
Eye (Lond) ; 37(2): 280-284, 2023 02.
Article in English | MEDLINE | ID: mdl-35043004

ABSTRACT

OBJECTIVE: We aimed to compare visual and anatomical outcome in vitrectomized and non-vitrectomized eyes treated with dexamethasone (DEX) implant due to diabetic macular oedema (DMO). DESIGN: Multicenter, retrospective, interventional study. PARTICIPANTS: 236 eyes from 234 patients with DMO with or without previous vitrectomy performed with follow-up of 12 months. METHODS: Records were reviewed for cases of DMO treated with DEX implant in vitrectomized and not vitrectomized eyes. Best corrected visual acuity (BCVA), central subfoveal thickness (CST), and intraocular pressure (IOP) were recorded at baseline and 12 months after treatment with DEX implants. Correlations between vitreous status and visual and anatomical outcome, as well as safety profile were analysed. MAIN OUTCOME MEASURES: BCVA and CST over follow-up period. SECONDARY OUTCOMES: cataract rate formation, intraocular pressure increase, number of implants needed. RESULTS: The non-vitrectomized group included 130 eyes (55.1%), the vitrectomized group included 106 eyes (44.9%). The groups were well balanced for age and gender (p = 0.540, and p = 0.053, respectively). Both groups showed statistically significant improvement in BCVA and CST (for all groups: p < 0.001). There was no significant difference between the groups in terms of change in vision (p = 0.89) and anatomy (p = 0.65). The mean number of DEX implants given during follow-up was 3.5 in both groups, and there was no significant difference between the groups (p = 0.81). CONCLUSION: We demonstrated similar anatomical and functional efficacy of DEX implant in non-vitrectomized and vitrectomized eyes. Its efficacy was not influenced by full vitrectomy for diabetic retinopathy complications. Safety profile was well balanced between groups.


Subject(s)
Diabetic Retinopathy , Macular Edema , Humans , Macular Edema/drug therapy , Macular Edema/etiology , Macular Edema/surgery , Glucocorticoids/therapeutic use , Diabetic Retinopathy/drug therapy , Diabetic Retinopathy/surgery , Dexamethasone/therapeutic use , Retrospective Studies , Drug Implants/therapeutic use , Intravitreal Injections , Treatment Outcome
20.
Acta Ophthalmol ; 101(3): e338-e345, 2023 May.
Article in English | MEDLINE | ID: mdl-36259092

ABSTRACT

OBJECTIVE: The objective of the study was to investigate the prevalence, risk factors and clinical significance of prechoroidal cleft (PC) among neovascular age-related macular degeneration (nAMD) patients in a Caucasian population. DESIGN: A retrospective observational cohort study. METHODS: A total of 140 patients with naive nAMD were treated with anti-vascular endothelial growth factor (VEGF) injections and a follow-up of ≥24 months. Optical coherence tomography (OCT) scans were graded for the presence of PC, central subfield foveal thickness (CSFT), maximal retinal thickness (MRT), pigment epithelial detachment (PED), presence of intraretinal fluid (IRF), subretinal fluid (SRF) and subretinal hyper-reflective material (SHRM) at baseline, 3, 6, 12 and 24 months. Best corrected visual acuity (BCVA) and anti-VEGF treatments were recorded. RESULTS: Out of 140, 21 eyes (15%) developed PC. BCVA improved significantly from 0.68 ± 0.56 to 0.62 ± 0.59 logMAR after 24 months (p = 0.008). The change in BCVA was not related to the presence of cleft (p = 0.208). Multivariate analysis confirmed that higher baseline CSFT (p = 0.011, OR = 1.004, 95%, CI 1.001-1.007) and the presence of multi-layered PED (p < 0.001, OR = 21.153, 95%, CI 5.591-80.026) were both predictive for development of PC. Eyes with PC received more injections than eyes without PC. CONCLUSION: Prechoroidal cleft was found in 15% of Caucasian nAMD patients treated with anti-VEGF injections and was related to greater retinal and PED height, as well as presence of multi-layered PED. Eyes with PC required more anti-VEGF injections. The presence of PC correlates with disease activity, and intensive anti-VEGF suppression can preserve vision.


Subject(s)
Macular Degeneration , Retinal Detachment , Humans , Angiogenesis Inhibitors/therapeutic use , Vascular Endothelial Growth Factor A , Retrospective Studies , Clinical Relevance , Intravitreal Injections , Retinal Detachment/drug therapy , Retinal Pigment Epithelium , Macular Degeneration/drug therapy , Risk Factors
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