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BACKGROUND AND OBJECTIVE: Retrospective analysis correlating serologic titers of ocular syphilis with posterior segment manifestations. PATIENTS AND METHODS: This study consisted of 40 patients (80 eyes imaged, 68 affected) with positive rapid plasma reagin (RPR) and Treponema Pallidum immunoglobulin G. We collected demographic and presentation data including HIV status, absolute CD4 count, RPR, cerebrospinal fluid-venereal disease research laboratory (CSF-VDRL) test, and retinal zone. We categorized imaging into syphilitic outer retinopathy (SOR), acute syphilitic posterior placoid chorioretinopathy, retinitis/chorioretinitis (RC), and papillitis. Multivariate analysis correlated HIV status, RPR, and VDRL titers with posterior segment findings and zone. RESULTS: Mean age of 42.8 ± 10.7 years, with 70% male patients. Presenting visual acuity (logMAR) 0.66 ± 0.74 did not correlate with RPR, nor was it associated with papillitis, RC, or acute syphilitic posterior placoid chorioretinopathy. Higher RPR (≥ 1:128) positively associated with SOR (P = 0.031) and zone 1 (odds ratio [OR], 1.62; P = 0.02), but negatively associated with zone 2 (OR 0.35; P = 0.005). HIV positivity increased RC odds (OR, 4.45; P = 0.047). CONCLUSION: Higher RPR correlated with SOR and zone 1, whereas HIV positivity correlated with RC. [Ophthalmic Surg Lasers Imaging Retina 2024;55:XX-XX.].
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PURPOSE: The optimal management of pediatric traumatic macular holes (TMH) is unclear from lack of prospective randomized trials. The literature is divided into early (≤1month post-trauma), delayed (>1 month) pars plana vitrectomy (PPV), and observation. Our aim is to find which group can achieve best-superior spectacle corrected visual acuity (VA), visual gain, and time for hole closure. DESIGN: Systematic review. METHODS: This systematic review was registered with PROSPERO (ID:CRD42022383134). The databases searched from inception until July 31, 2023, were MEDLINE OVID, Scopus, Web of Science, Embase, and Google Scholar. The articles were screened for title and abstract then for full text. Risk of bias was also assessed. Three outcome measures were analyzed: final VA, visual gain, and time to closure of macular hole (MH). MH size was divided into small (≤250 µm), medium (>250-500 µm), and large (>500 µm). RESULTS: Ninety eight (98) studies with 234 patients in the PPV group and 87 patients in the observation group were included in the review. Final VA (logarithm of the minimum angle of resolution) and visual gain were respectively in PPV vs observation groups: (1) small MH 0.37 ± 0.52 vs 0.42 ± 0.56 (P = .484) and -0.96 ± 0.83 vs -0.49 ± 0.40 (P = .005); (2) medium MH 0.58 ± 0.39 vs 0.34 ± 0.34 (P = .06) and -0.36 ± 0.42 vs -0.74 ± 0.44 (P < .001); (3) large MH 0.62 ± 0.42 vs 0.59 ± 0.35 (P = .337) and -0.31 ± 0.48 vs -0.62 ± 0.37 (P = .11). Small TMH had comparable closure time: 3.21 ± 2.52 months vs 3.49 ± 4.43 (P = .954) in the PPV and observation groups. Early and late PPV yielded comparable final VA 0.67 ± 0.66 vs 0.54 ± 0.35 (P = .576) and visual gain -0.58 ± 0.69 vs -0.49 ± 0.48 (P = .242) in the PPV and observation groups. CONCLUSIONS: PPV was very effective in closing TMH and VA gain in children throughout a wide range of hole size. Early and delayed PPV yielded similar anatomic and visual results. Observation and PPV yielded comparable final VA and closure time. Clinicians can choose either early PPV or delayed PPV when healing biomarkers are absent on periodic optical coherence tomography.
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Introduction: Nanophthalmos is characterized by a short axial length, a thick choroid, and a thick sclera. Unilateral symptomatic disc swelling in nanophthalmos presents both a diagnostic and a therapeutic challenge. Case Presentation: A healthy 59-year-old man reported a two-week-long abrupt vision reduction in his right eye. 20/100 best spectacle (+17.25 diopter) corrected visual acuity, unilateral widespread disc enlargement, central scotoma, and a slight color vision disruption without an afferent pupillary defect were among the positive findings in the right eye. Workup for neuro-ophthalmology was negative. Numerous consultations did not suggest any form of treatment for the patient. Review of the optical coherence tomography (OCT) indicated a small, crowded optic nerve head and substantial diffuse choroidal thickening with dome-shaped temporal peripapillary area with choroidal expansion. In addition to circumferential anterior four-quadrant 95%-deep sclerectomy from recti insertion to the vortices, radial nasal posterior sclerotomy reaching the optic nerve sheath was performed on the patient. After the procedure, 2 weeks later, the patient's vision returned, and it persisted until the 6-month follow-up. By OCT, the two eyes were comparable as far as disc contour and nerve fiber layer thickness. Conclusion: This form of sclerectomy, which aims at decompressing the oncotic choroidal pressure, is an effective treatment for compressive optic neuropathy in the context of nanophthalmos. Could sclerectomy assist in treating other optic neuropathies associated with peripapillary pachychoroid?
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The comments by Otiti et al [...].
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Purpose:To describe the visual outcomes and problems that resulted from surgical treatment of nanophthalmic complete retinal detachment (RD) with retina-lens contact. Methods: A multicenter retrospective case series with deep sclerectomy as a treatment was performed. Results: Five cases had extensive deep sclerectomies, 3 with intended drainage of subretinal fluid (SRF). The RD resolved 1 week postoperatively in 4 cases and within 1 month in 1 case. The visual acuity improved from light perception to a median of 20/100. Three cases had longstanding lens touch beyond 1 year and improved VA to 20/100, 20/150, and hand motions, respectively. Complications included focal lens dialysis in 2 cases (passive drainage of SRF) and lens or intraocular lens dislocation in 1 case each (active drainage of SRF). Ultrasound biomicroscopy and anterior optical coherence tomography showed a very narrow angle and short zonules. Conclusions: Deep sclerectomy results in good anatomic and functional improvements in advanced cases of nanophthalmos exudative detachment, which is often considered to be incurable.
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BACKGROUND: Lung cancer (LC) has poor survival outcomes mainly due to diagnosis at late stages. This study explored the anticipated time to seek medical advice for possible LC symptoms and barriers to early presentation in Palestine. METHODS: This cross-sectional study recruited adult participants from hospitals, primary healthcare centers, and public spaces of 11 governorates using convenience sampling. A modified, translated-into-Arabic version of the validated LC awareness measure was used to assess LC symptom awareness, the time needed to seek medical advice and barriers to early presentation. RESULTS: A total of 4762 participants were included. The proportion that would immediately seek medical advice for possible LC symptoms varied according to the symptoms' nature. For respiratory symptoms, this ranged from 15.0% for 'painful cough' to 37.0% for 'coughing up blood'. For non-respiratory symptoms, this ranged from '4.2% for 'unexplained loss of appetite' to 13.8% for 'changes in the shape of fingers or nails'. Participants with good LC symptom awareness were more likely to seek medical advice within a week of recognizing most LC symptoms. About 13.0% would delay their visit to see a doctor after recognizing an LC symptom. The most reported barriers were emotional with 'disliking the visit to healthcare facilities' (59.8%) as the leading barrier. CONCLUSION: LC respiratory symptoms were more likely to prompt early seeking of medical advice. Good LC symptom awareness was associated with a higher likelihood of help-seeking within a week. Educational interventions are needed to promote LC awareness and address the perceived barriers to early presentation in low-resource settings, such as Palestine.
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Neoplasias Pulmonares , Humanos , Adulto , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/epidemiologia , Estudos Transversais , Conhecimentos, Atitudes e Prática em Saúde , Projetos de Pesquisa , Emoções , Aceitação pelo Paciente de Cuidados de Saúde/psicologiaAssuntos
Lábio , Humanos , Edema/etiologia , Lábio/patologia , Doenças Labiais/diagnóstico , Doenças Labiais/patologiaRESUMO
Background and aim Executive function (EF) impairment is common in children with autism spectrum disorder (ASD). EF strategies are considered effective in improving the therapeutic outcomes of children with ASD. This study primarily aimed to explore whether integrating EF strategies combined with regular occupational therapy intervention is more effective in improving daily life skills (DLS) and sensory integration/processing (SI/SP) skills than regular occupational therapy alone in children with ASD and secondarily aims to assess treatment outcomes on improving visual motor integration (VMI) skills. Methods A total of 17 participants (13 males, mean age 4.29 years, standard deviation 0.66) completed the study. Following the baseline assessments, the participants were randomly assigned to the treatment group (45-minute once-weekly individual occupational therapy plus EF strategies) or control group (45-minute once-weekly individual therapy sessions alone). All participants received one intervention per week for 14 weeks. All children were systematically evaluated using a pediatric functional independent measure (WeeFIM) and the Verbal Behavior Milestones Assessment and Placement Program (VB-MAPP) to assess DLS, the Short Sensory Profile 2 (SSP2) to assess SP/SI, and the Beery VMI test (Beery VMI) to assess VMI. Assessments were conducted at baseline, seven weeks, and 14 weeks of treatment. Results The analysis of the results between the treatment and control groups revealed that the treatment group had greater gains and significant differences in the mean values of both the WeeFIM and SSP2. In addition, notable distinctions were observed in the VB-MAPP transition subscale; although these differences did not reach statistical significance, they were clinically significant. Minimal differences were noted in the VMI between the two groups. Nevertheless, both groups showed statistically significant improvements across all outcome measures. Conclusions Our study provides preliminary evidence of the efficacy of EF strategies combined with regular occupational therapy for DLS, SP/SI, and VMI in children with ASD. The differences between the groups support further evaluation of the effectiveness of EF strategies for the next stage of a larger randomized clinical trial.
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Retinitis pigmentosa (RP) is a group of inherited rod-cone dystrophies, noted for a high genotypical and phenotypical heterogeneity.Traditionally, VA, visual field, and electroretinography have been used to assess RP progression. However, visual acuity and visual field tests are essentially subjective and, especially in the late stages of the disease, are unable to confidently reveal minor progression. Therefore, there is a need for novel examination modalities that rely on quantitative, structural measurements. In this regard, several non-invasive imaging techniques have been studied, including spectral-domain optical coherence tomography, optical coherence tomography angiography, and fundus autofluorescence. By correlating surrogate biomarkers with functional measurements of the disease, these techniques may be able to develop reliable outcome meters that can be used to gain a deeper understanding of the underlying causes of the disease and to assess the effectiveness of therapy even before an actual loss of vision occurs.In this review, we will summarize the recent imaging findings and biomarkers that have been identified in RP patients. Our goal is to provide information that can promptly aid in selecting patients for clinical trials and new gene therapies, monitoring the disease progression, and evaluating treatment outcomes.
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Retinose Pigmentar , Humanos , Retinose Pigmentar/diagnóstico por imagem , Retinose Pigmentar/genética , Eletrorretinografia , Campos Visuais , Tomografia de Coerência Óptica , Biomarcadores , Imagem Multimodal , RetinaRESUMO
Best Vitelliform Macular Dystrophy (BVMD) is a dominantly inherited retinal disease caused by dominant variants in the BEST1 gene. The original classification of BVMD is based on biomicroscopy and color fundus photography (CFP); however, advancements in retinal imaging provided unique structural, vascular, and functional data and novel insights on disease pathogenesis. Quantitative fundus autofluorescence studies informed us that lipofuscin accumulation, the hallmark of BVMD, is unlikely to be a primary effect of the genetic defect. It could be due to a lack of apposition between photoreceptors and retinal pigment epithelium in the macula with subsequent accumulation of shed outer segments over time. Optical Coherence Tomography (OCT) and adaptive optics imaging revealed that vitelliform lesions are characterized by progressive changes in the cone mosaic corresponding to a thinning of the outer nuclear layer and then disruption of the ellipsoid zone, which are associated with a decreased sensitivity and visual acuity. Therefore, an OCT staging system based on lesion composition, thus reflecting disease evolution, has been recently developed. Lastly, the emerging role of OCT Angiography proved a greater prevalence of macular neovascularization, the majority of which are non-exudative and develop in late disease stages. In conclusion, effective diagnosis, staging, and clinical management of BVMD will likely require a deep understanding of the multimodal imaging features of this disease.
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Macula Lutea , Distrofia Macular Viteliforme , Humanos , Distrofia Macular Viteliforme/diagnóstico por imagem , Distrofia Macular Viteliforme/genética , Retina/patologia , Epitélio Pigmentado da Retina/patologia , Macula Lutea/patologia , Tomografia de Coerência Óptica/métodos , Angiofluoresceinografia/métodos , Imagem Multimodal , Bestrofinas/genéticaRESUMO
PURPOSE: Having an accurate knowledge of what truly increases the likelihood of developing lung cancer (LC) may help people make better decisions about lifestyle changes that could potentially lower their risk. This study assessed current beliefs in LC causation myths among Palestinians and explored factors associated with displaying good recognition of such myths. METHODS: A national cross-sectional study was conducted from July 2019 to March 2020. A modified version of the Cancer Awareness Measure-Mythical Causes Scale was used for data collection. The awareness level of LC causation myths was determined based on the number of myths recognized to be incorrect: poor (0-4), fair (5-9), and good (10-13). RESULTS: A total of 4,817 participants completed the questionnaire of 5,174 approached (response rate = 93.1%). In total, 4,762 participants were included in the final analysis. Myths unrelated to food were more commonly recognized than food-related myths. The food-related myth most frequently recognized was eating burnt food (n = 1,427; 30.0%) followed by drinking from plastic bottles (n = 1,389; 29.2%). The food-related myth least commonly recognized was eating food containing additives (n = 737; 15.5%). The most frequently recognized myth unrelated to food was having a physical trauma (n = 2,903; 61%), whereas the least was using cleaning products (n = 1,140; 23.9%). Only 287 participants (6%) displayed good awareness. Having a chronic disease and knowing someone with cancer were associated with a decrease in the likelihood of displaying good awareness. Conversely, participants who were smoking cigarettes/shisha and those recruited from hospitals had an associated increase in the likelihood of displaying good awareness. CONCLUSION: This study found very poor awareness of LC causation myths, with only 6% recognizing ≥10 myths. Initiatives addressing LC mythical causes are needed.
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Neoplasias Pulmonares , Humanos , Neoplasias Pulmonares/epidemiologia , Neoplasias Pulmonares/etiologia , Estudos Transversais , Árabes , Inquéritos e QuestionáriosRESUMO
PURPOSE: To report the acute onset of macular atrophy soon after photobiomodulation (PBM) administration in a patient with intermediate age-related macular degeneration (AMD). METHODS: Optical coherence tomography (OCT) was performed in the study eye before and after PBM. RESULTS: A patient with drusenoid pigment epithelium detachment (D-PED) underwent PBM. A few weeks after PBM the D-PED collapsed, resulting in incomplete retinal pigment epithelium and outer retinal atrophy with visual acuity worsening. CONCLUSION: Thinning of the outer retinal layers over a D-PED and posterior hypertrasmission may represent bad prognostic factors for PBM, accelerating the lesion's natural history towards atrophic evolution.
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BACKGROUND: Newer generation ophthalmologists practicing in the developed world are not very familiar with some tropical ocular diseases due to the absence of reports in the ophthalmic literature over the past thirty years. Because of world globalization or due to influx of immigrants from sub-Saharan Africa, exotic retinal diseases are being encountered more often in ophthalmology clinics. METHODS: A multicenter case series of chorioretinitis or optic neuritis with obscure etiology that used serial multimodal imaging. RESULTS: Four cases qualified with the diagnosis of presumed ocular onchocerciasis based on their residence near fast rivers in endemic areas, multimodal imaging, long term follow-up showing progressive disease and negative workup for other diseases. Characteristic findings include peripapillary choroiditis with optic neuritis or atrophy, subretinal tracts of the microfilaria, progressive RPE atrophy around heavily pigmented multifocal chorioretinal lesions of varying shapes, subretinal white or crystalline dots, and response to ivermectin. Typical skin findings are often absent in such patients with chorioretinitis rendering the diagnosis more challenging. CONCLUSIONS: Familiarity with the myriad ocular findings of onchocerciasis, and a high-degree of suspicion in subjects residing in endemic areas can help in the correct diagnosis and implementation of appropriate therapy. Onchocercal chorioretinitis is a slow, insidious, progressive, and prolonged polymorphous disease.
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Purpose: To analyze the multimodal imaging characteristics of intraretinal macroaneurysms. Patients and Methods: Intraretinal aneurysms larger than 150 µm in diameter on fluorescein angiography were termed as intraretinal macroaneurysm and grouped as primary and secondary according to the absence or presence of any coexisting posterior segment diseases. Results: A total of 20 intraretinal macroaneurysms were observed in 18 eyes of 18 patients. Mean age of the cohort was 65.44 ± 9.14 years (Range; 49-82 years). Mean diameters of intraretinal macroaneurysms were 238.20 ± 61.12 µm (Range; 163.00-292.50 µm) and 242.72 ± 49.58 µm (Range; 168.00-328.00 µm) on fluorescein angiography and optical coherence tomography, respectively. Primary group had 10 eyes with 11 intraretinal macroaneurysms, whereas eight eyes had nine intraretinal macroaneurysms in the secondary group. Three of the eight eyes (37.5%) had diabetic retinopathy, four (50%), retinal vein occlusion, and one (12.5%), posterior uveitis in the secondary group. No statistically significant differences were found between the two groups in terms of age, sex, presence of intraretinal or subretinal fluid, the mean age, the mean central macular thickness, the mean distance of intraretinal macroaneurysms from the fovea, the mean diameter of intraretinal macroaneurysms measured on fluorescein angiography, and the mean diameter of intraretinal macroaneurysms measured on optical coherence tomography. Presence of intraretinal fluid was significantly more frequent than the presence of subretinal fluid in all eyes (p = 0.004). Conclusion: Intraretinal macroaneurysms are diagnosed more and more with the utilization of multimodal imaging techniques. We propose a simple classification system in order to help achieving a standardized terminology and ensure consistent understanding. The classification can be simplified as primary or secondary intraretinal macroaneurysm according to the absence or presence of the associated posterior segment disorders.
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PURPOSE: To investigate best corrected visual acuity (BCVA), subretinal fluid (SRF) absorption time or ellipsoid zone (EZ) restoration time and various variables in patients with persistent SRF after successful primary repair of rhegmatogenous retinal detachment (RRD). METHODS: This retrospective multicenter study allowed independent analysis of the healing pattern by two observers based on composite of serial cross-sectional macular optical coherence tomography (OCT) scans. Univariate and multivariate analyses were implemented. RESULTS: One hundred and three cases had persistent SRF after pars plana vitrectomy, scleral buckling, or pneumatic retinopexy. By univariate analysis, SRF resolution time correlated positively with the number of retinal breaks (p < 0.001) and with increased myopia (p = 0.011). Using multivariate analysis, final BCVA (log MAR) correlated positively with age, duration of RRD, initial BCVA (OR = 3.28; [95%CI = 1.44-7.47]; p = 0.015), and SRF resolution time (OR = 0.46 [95%CI 0.21-1.05]; p = 0.049). EZ restoration time was longer with increasing number of retinal tears (OR = 0.67; [95%CI 0.29-1.52]; p = 0.030), worse final BCVA, and presence of macula-off RRD (OR = 0.26; [95%CI 0.08-0.88]; p = 0.056). SRF resolution time correlated marginally with prone position. CONCLUSIONS: Residual posterior SRF is more common in eyes with multiple breaks or in myopic eyes. Final BCVA is better in younger subjects and in eyes with shorter duration of RRD. Persistent SRF is a self-limited disorder with a mean resolution of 11.2 months with good visual prognosis improving from a mean baseline logMAR of 1.08 to 0.25 at one year.
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Purpose: To study the anatomic outcome of leaving vitreous cortex remnants (VCR) during pars plana vitrectomy (PPV) for primary rhegmatogenous retinal detachment (RRD). Methods: The study comprised patients with RRD who had PPV by a single surgeon between January 2019 and December 2020 and followed for 6 months. After intravitreal injection of triamcinolone acetonide, the topographic pattern of VCR at the periphery (p) and macula (m) was divided into 2 types by extent: complete or 4 quadrants (pVCR4Q), and between 2 and 4 quadrants ≥2 quadrants (pVCR>2Q), or by location >1 inferior retinal quadrant (pVCR>1InfQ), and at the macula (mVCR). Anatomical failure or retinal re-detachment within 6 months after surgery was the primary outcome measures. The occurrence of grade C proliferative vitreoretinopathy (PVR) and epiretinal membrane (ERM) were used as secondary outcome indicators. Results: A 6-month prospective follow-up was performed on 103 patients. pVCR4Q was detected in 31 eyes, pVCR>2Q in 40 eyes, pVCR>1InfQ in 40 eyes and mVCR in 54 eyes. Recurrent RRD developed in 9 (8.7%) eyes, PVR grade C in 6 (5.8%) eyes and ERM in 11 (10.7%) eyes. According to multivariate regression analysis, the existence of any type of VCR did not correlate with anatomical failure, PVR or ERM. Conclusion: The initial success rate of PPV and the growth of PVR or ERM do not appear to be impacted by keeping VCR.
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PURPOSE: To describe the characteristics and veterinary management of animal casualties after an ammonium nitrate explosion in the Port of Beirut. METHODS: Retrospective evaluation of medical records from multiple veterinary organizations. RESULTS: Veterinary care was administered to 298 cats and 103 dogs, with 101 animals (25%) undergoing surgical procedures under general anesthesia. Glass injuries prevailed, with suturing performed in 98 animals (24.4%). Surgery was used to treat 31 animals (7.7%) with extremity fractures and 52 animals with tendon injuries (13.3%). Bodily burns were encountered in 19 animals (4.7%). Six animals (1.5%) lost their hearing entirely, while another 6 (1.5%) lost an eye. CONCLUSION: The joint coordinated work of veterinary groups and nongovernmental animal organizations reduced the number of injured animal fatalities. Of animals documented as having undergone treatment, 355 (88.5%) survived their initial injury assessment, and 46 (11.5%) died.
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Explosões , Animais , Cães , Estudos RetrospectivosRESUMO
Purpose: To identify the vascular biomarkers of peripheral capillary nonperfusion in patients affected by naive central retinal vein occlusion (CRVO), and to analyze their changes over the follow-up. Study Design: Consecutive prospective case series with a planned follow-up of 2 years. Participants: Thirty-five patients affected by CRVO and 35 healthy gender- and age-matched subjects were enrolled in the study. Methods: Ophthalmic examination included best corrected visual acuity (BCVA), ultrawidefield fluorescein angiography (UWFFA), OCT, and OCT angiography (OCTA). Main Outcome Measures: Vessel density (VD) at the superficial capillary plexus and deep capillary plexus (DCP) were calculated on OCTA images. The ischemic index (ISI) was calculated on UWFFA. Results: The mean baseline ISI was 37%, increasing to 40% at the end of the follow-up, whereas it was 4.9% in the patients' fellow eyes and 4.5% in the control group with no change over the follow-up. OCT angiography revealed VD reduction in the DCP, considering both 3 × 3 mm and 12 × 12 mm scans. The correlation analyses revealed that DCP VD was the only parameter showing a statistically significant correlation with the foveal avascular zone (FAZ) area, BCVA, and ISI. Conclusions: Deep capillary plexus VD impairment is detectable in all CRVO cases, variably involving both the central retina (with enlarged FAZ) and the periphery (with VD reduction in the peripheral retina). The severity of DCP VD reduction has correlates with various clinical markers. Deep capillary plexus VD may represent a crucial biomarker to characterize CRVO, and further studies are necessary to identify the cutoff thresholds for the different clinical manifestations.
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PURPOSE: To report a case of Pigmented Paravenous Chorioretinal Atrophy (PPCRA) associated with a novel RPGRIP1 dominant variant. METHODS: Case report. The patient underwent multimodal retinal imaging, including spectral-domain optical coherence tomography (OCT), OCT Angiography (OCTA), blue-light autofluorescence (BAF), and ultra-widefield pseudocolor retinography and autofluorescence. Genetic testing was performed using next-generation sequencing. RESULTS: A 67-year-old male presented with a clinical suspicion of retinitis pigmentosa. His best-corrected visual acuity was 20/32 in the right eye and 20/200 in the left eye. On fundus examination, paravenous pigment clumping and chorioretinal atrophy were seen bilaterally, matching confluent hypoautofluorescent areas departing from the optic disc. This clinical presentation suggested a case of PPCRA. Genetic testing found a heterozygous deletion of nucleotide 631 (c.631del) in the RPGRIP1 gene, a frameshift variant that generates a premature stop codon (p.Ser211Valfs*64) and therefore results in a truncated or absent protein product. The variant was regarded as likely pathogenic (class IV). CONCLUSION: In this report, we describe a case of PPCRA in association with a novel, likely pathogenic c.631del, p.Ser211Valfs*64 variant in RPGRIP1, a gene that has been associated with Leber congenital amaurosis and cone-rod dystrophy. Our case expands the spectrum of genes associated with PPCRA and prompts further studies to ascertain the molecular etiopathogenesis of this disease.