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1.
Am J Ophthalmol Case Rep ; 34: 102061, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38680526

RESUMO

Purpose: Wagner syndrome is an autosomal genetic vitreoretinopathy characterized by chorioretinal atrophy, avascular vitreous veils, reduced visual acuity and early retinal detachment in advanced cases. Management of Wagner syndrome usually results in observation then management of occurring complications. Observations: We report the case of a 9-year-old girl presenting with supposed Wagner syndrome that we managed with prophylactic encircling band and retinopexy in both eyes. The genetic testing revealed a new variant in the intron 7 non canonical splice acceptor site, c.4004-12_4004-6delins17, that was also present in her father. Conclusions and Importance: The VCAN variant found in this proband and her father has not been described yet but shows high predictions of pathogenicity. The previous reported variants in VCAN intron 7 and the associated phenotype for both cases allowed us to attribute this variant to Wagner syndrome. In Wagner syndrome, management is usually curative. After prophylactic surgery in our case, the zones of retinal delamination were well supported by the scleral buckle, releasing the vitreoretinal tractions, and the additional laser focalized on the temporal zones of dehiscence secured the retina. An encircling band may be a good way to prevent RD in patients with Wagner syndrome at risk.

2.
Acta Ophthalmol ; 2024 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-38682863

RESUMO

PURPOSE: To elaborate a deep learning (DL) model for automatic prediction of late recurrence (LR) of rhegmatogenous retinal detachment (RRD) using pseudocolor and fundus autofluorescence (AF) ultra-wide field (UWF) images obtained preoperatively and postoperatively. MATERIALS AND METHODS: We retrospectively included patients >18 years who underwent either scleral buckling (SB) or pars plana vitrectomy (PPV) for primary or recurrent RRD with a post-operative follow-up >2 years. Records of RRD recurrence between 6 weeks and 2 years after surgery served as a ground truth for the training of the deep learning (DL) models. Four separate DL models were trained to predict LR within the 2 postoperative years (binary outputs) using, respectively, UWF preoperative and postoperative pseudocolor images and UWF preoperative and postoperative AF images. RESULTS: A total of 412 eyes were included in the study (332 eyes treated with PPV and 80 eyes with SB). The mean follow-up was 4.0 ± 2.1 years. The DL models based on preoperative and postoperative pseudocolor UWF imaging predicted recurrence with 85.6% (sensitivity 86.7%, specificity 85.4%) and 90.2% accuracy (sensitivity 87.0%, specificity 90.8%) in PPV-treated eyes, and 87.0% (sensitivity 86.7%, specificity 87.0%) and 91.1% (sensitivity 88.2%, specificity 91.9%) in SB-treated eyes, respectively. The DL models using preoperative and postoperative AF-UWF imaging predicted recurrence with 87.6% (sensitivity 84.0% and specificity 88.3%) and 91.0% (sensitivity 88.9%, specificity 91.5%) accuracy in PPV eyes, and 86.5% (sensitivity 87.5%; specificity 86.2%) and 90.6% (sensitivity 90.0%, specificity 90.7%) in SB eyes, respectively. Among the risk factors detected with visualisation methods, potential novel ones were extensive laser retinopexy and asymmetric staphyloma. CONCLUSIONS: DL can accurately predict the LR of RRD based on UWF images (especially postoperative ones), which can help refine follow-up strategies. Saliency maps might provide further insight into the dynamics of RRD recurrence.

3.
Am J Ophthalmol ; 2024 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-38373584

RESUMO

PURPOSE: Non-powder toy-guns (NPTG) are responsible for many ocular traumas. This study aims to detail the outcomes of these injuries, depending on the causative NPTG. DESIGN: Retrospective observational case series. METHODS: Cases of NPTG-associated ocular trauma managed in a Parisian eye emergency department between August 1, 2010, and January 1, 2023, were reviewed. The date of trauma, causative NPTG, patient demographics, initial and follow-up eye examinations, any surgical procedure, and visual outcomes for each ocular trauma were analyzed RESULTS: Over 12 years, NPTG were responsible for 324 eye injuries and 980 visits. Patients were mostly males (77.5%), and mean age at trauma was 16.2 years. Foam bullets or foam darts blasters accounted for 54.9% of traumas and were mainly responsible for corneal injuries and hyphema (30.9% and 27%, respectively). BB-gun/airsoft guns were frequently responsible for anterior segment lesions, as well as intravitreal hemorrhages (14.7%) and commotio retinae (21.1%). Paintball guns accounted for the largest proportion of posterior segment lesions (such as intra- or subretinal hemorrhages leading to macular atrophy/contusion maculopathy), and one-third of casualties had undergone ocular surgery. Among all traumas, final visual acuity was lower than 20/200 in 6.5% of cases. Phthisis occurred in 8 cases: 2 were related to foam bullets or foam darts blaster injuries (1 contusion and 1 rupture), 2 other cases followed a rupture due to BB-guns/airsoft-guns, 1 case occurred after a rupture related to a paintball gunshot, and 3 others were due to other types of compressed air guns (1 rupture, 1 intraocular foreign body and 1 total retinal detachment). CONCLUSION: NPTG-related ocular trauma outcomes differ according to the causative toy. Paintball guns and BB-guns/airsoft guns-related traumas were more likely to be associated with severe lesions, but an increasing number of ocular injuries related to the use of foam bullets or foam darts blasters are reported, in younger and younger children. Public health policies should promote the use of protective eyewear.

6.
Ophthalmol Retina ; 2024 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-38199456

RESUMO

PURPOSE: To report on the anatomical and functional outcomes of a modified limbal lensectomy-vitrectomy (LV) approach for stages 4B and 5 retinopathy of prematurity (ROP) as defined in the International Classification of Retinopathy of Prematurity, 3rd Edition (ICROP 3). DESIGN: Retrospective, monocentric, consecutive case series. PATIENTS: Infants with ROP that underwent limbal LV for diffuse retrolental fibroplasia. METHODS: Clinical charts and Retcam photographs were reviewed. Surgical approach consisted of a limbal LV through peripheral iridectomies with centripetal dissection of the preretinal fibrosis. MAIN OUTCOME MEASURES: Anatomical success and visual function at last follow-up were evaluated. Multivariate logistic regression was used to explore potential prognostic factors affecting the anatomical outcome. RESULTS: A total of 128 eyes of 81 patients with a mean gestational age of 28.7 ± 3.0 weeks and a mean birthweight of 1244 ± 429 g were included. Eighteen eyes (14.1%) had a stage 4B, 24 (18.8%) a stage 5B, and 86 a stage 5C (67.2%) ROP. Mean age at surgery was 57.4 ± 36.3 weeks and mean postoperative follow-up was 22.7 ± 20.4 months. Only 5 eyes (3.9%) had prior peripheral retinal ablation. Macular reattachment was achieved in 74 eyes (57.8%). Controlling for other baseline factors, a stage 5C (versus stage 4B, odds ratio [OR] = 6.9 [1.5-32.1], P = 0.01 and versus stage 5B, OR = 7.4 [1.5-37.1], P = 0.02), the presence of vascular activity (OR = 6.4 [2.3-18.1], P < 0.001), and the presence of Schlieren sign (OR = 13.0 [2.1-82.2], P = 0.006) were associated with a failure of macular reattachment. Visual acuity was assessed in 92 eyes (71.9%), among which 59 eyes (64.1%) had light perception or better. CONCLUSIONS: Modified limbal LV resulted in macular reattachment in more than half of eyes with ROP-related retinal detachment and diffuse retrolental fibrosis. A stage 5C based on ICROP 3, the presence of vascular activity, and a Schlieren sign were significantly associated with a failure of macular reattachment. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

7.
Retina ; 44(4): 669-679, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-37973048

RESUMO

PURPOSE: To describe the clinical characteristics, management, and outcomes of toddlers (under the age of 3) diagnosed with familial exudative vitreoretinopathy. METHODS: In this retrospective study, patients diagnosed with familial exudative vitreoretinopathy before the age of 3 were included. Presenting characteristics, genetic testing, management, and outcomes were collected. RESULTS: A total of 54 patients (108 eyes) with a mean age at diagnosis of 10.9 ± 2.6 months were included. Poor visual behavior (33%) and strabismus (26%) were the most common presenting symptoms, whereas screening only represented 11%. About half of included patients had a severe disease (stages 4 and 5). Genetic testing was positive in 40.7% of patients with 24% having a family history of familial exudative vitreoretinopathy. LRP5 was the most prevalent mutation (54.5%).Surgery was performed in 44.4% of eyes and was successful in 69.8% of cases. Failure exclusively occurred in eyes with severe stages. Among eyes evaluated for visual acuity (72 eyes), most (76.4%) had a vision of hand motion or better. CONCLUSION: Familial exudative vitreoretinopathy tended to be worse with earlier age at diagnosis, subsequently affecting the prognosis. Surgical intervention was common and primarily included lens-sparing vitrectomy and combined lensectomy and vitrectomy. Surgical success hinged on the stage of the disease.


Assuntos
Cristalino , Vitrectomia , Humanos , Lactente , Vitreorretinopatias Exsudativas Familiares , Estudos Retrospectivos , Prognóstico
8.
Eye (Lond) ; 38(2): 315-320, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-37524832

RESUMO

PURPOSE: To the describe OCT imaging characteristics of a cohort of patients showing spontaneously closing degenerative or mixed type lamellar macular holes (LMH) and to compare them to the ones of a sex and age matched group showing stable lesions. METHODS: Patients diagnosed with degenerative and mixed type LMHs showing OCT-documented spontaneous anatomical closure were retrospectively selected from 3 specialized retina centres. An equal number of age and sex matching subjects were randomly selected among patients with anatomically stable lesions. RESULTS: Eleven (11) spontaneously closing (SC group) and 11 stable (ST group) degenerative LMH with a mean follow up of 4 years were recruited. Hyperreflective inner border (HIB) and linear hyperreflectivity in the outer plexiform layer (LHOP) at baseline were significantly more prevalent in SC group in processed images (respectively p = 0.007 and p = 0.003). A borderline significance in lamellar hole associated epiretinal proliferation (LHEP) at last follow up was detected (p = 0.085). As for mixed type LMH, 10 patients for SC group and 10 for ST group were recruited. LHOP at baseline in processed images was significantly more prevalent in SC group (p = 0.005). CONCLUSIONS: Spontaneously closing LMHs show higher prevalence of HIB and LHOP at the beginning of the closing process, a difference which is enhanced by image processing. These signs might be a signal of microglial and Muller cells coordinated activation.


Assuntos
Membrana Epirretiniana , Perfurações Retinianas , Humanos , Perfurações Retinianas/diagnóstico por imagem , Membrana Epirretiniana/diagnóstico , Estudos Retrospectivos , Acuidade Visual , Tomografia de Coerência Óptica/métodos , Seguimentos
9.
Ophthalmol Retina ; 8(3): 210-222, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37743020

RESUMO

PURPOSE: To assess the natural history and surgical outcomes of lamellar macular holes (LMHs). DESIGN: Retrospective and consecutive case series. SUBJECTS: Patients with LMHs from multiple tertiary care centers. METHODS: Clinical charts and OCT scans were reviewed. MAIN OUTCOME MEASURES: The visual acuity (VA) changes and the occurrence rate of full-thickness macular hole (FTMH) were studied in both groups. Within the operated group, factors associated with 6-month VA and development of FTMH were explored. RESULTS: One hundred seventy-eight eyes were included, of which 89 were monitored and 89 underwent surgery. In the observation group, the mean VA decreased from 0.25 ± 0.18 to 0.28 ± 0.18 logarithm of the minimum angle of resolution (logMAR; P = 0.13), with 14 eyes (15.7%) that lost ≥ 0.2 logMAR VA, after 45.7 ± 33.3 months. Nine eyes (10.1%) spontaneously developed an FTMH. In the operated group, the mean VA increased from 0.47 ± 0.23 to 0.35 ± 0.25 logMAR at 6 months (P < 0.001) and 0.36 ± 0.28 logMAR (P = 0.001) after 24.1 ± 30.1 months. By multivariate analysis, better baseline VA (P < 0.001), the presence of an epiretinal membrane (P = 0.03), and the peeling of the internal limiting membrane (ILM; P = 0.02), with a greater effect of ILM perihole sparing, were associated with a greater 6-month VA. Perihole epiretinal proliferation sparing was associated with a better postoperative VA by univariate analysis (P = 0.03), but this was not significant by multivariate analysis. Eight eyes (9.0%) developed a postoperative FTMH. Using Cox proportional hazard ratios [HRs], pseudophakia at baseline (HR, 0.06; 95% confidence interval [CI], 0.00-0.75; P = 0.03) and peeling of the ILM (HR, 0.05; 95% CI, 0.01-0.39; P = 0.004) were protective factors, while ellipsoid zone disruption (HR, 10.5; 95% CI, 1.04-105; P = 0.05) was associated with an increased risk of FTMH. CONCLUSION: Observed eyes with LMH experienced, on average, progressive VA loss. Patients with LMH and altered vision may benefit from surgery. Internal limiting membrane peeling, with perihole ILM sparing, represents a crucial step of the surgery associated with a greater VA and a lower risk of postoperative FTMH. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.


Assuntos
Perfurações Retinianas , Humanos , Perfurações Retinianas/diagnóstico , Perfurações Retinianas/cirurgia , Perfurações Retinianas/complicações , Estudos Retrospectivos , Vitrectomia , Resultado do Tratamento , Retina
10.
Acta Paediatr ; 112(12): 2516-2521, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37681343

RESUMO

AIM: Preterm children are highly vulnerable to sensorial impairments through Retinopathy Of Prematurity (ROP). The objective was to determine whether some cases of ROP requiring surgery could be secondary to deficiencies in care pathways. METHODS: Descriptive study of neonatal characteristics and the screening/treatment pathways of children treated for stage ≥4A ROP from 2009 to 2020 in a referral unit in France. RESULTS: Twenty-five preterm children (44 eyes) were included: median gestational age was 25 weeks, and median birthweight was 700 grams. Eighty-four per cent had received at least one fundus examination, 50% of which were completed on time. At the time of retinal detachment diagnosis, only 36% of the children had received laser or anti-vascular endothelial growth factor (VEGF) intra-vitreal injection. ROP stage was only reported in 8%, and the zone or type was reported in 16% of the files. CONCLUSION: The risk of blindness and the effectiveness of laser or anti-VEGF treatment highlight the need to enhance screening and treatment practices in France.


Assuntos
Descolamento Retiniano , Retinopatia da Prematuridade , Recém-Nascido , Criança , Humanos , Lactente , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/etiologia , Descolamento Retiniano/terapia , Retinopatia da Prematuridade/terapia , Retinopatia da Prematuridade/cirurgia , Recém-Nascido Prematuro , Peso ao Nascer , Idade Gestacional , Fotocoagulação a Laser , Estudos Retrospectivos
11.
Arch Pediatr ; 30(6): 396-400, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37394362

RESUMO

INTRODUCTION: Epidemiological data on the use of eye-related emergency services by children are limited. The objective of this study was to determine how COVID-19 affected the epidemiological trends of pediatric ocular emergencies. METHODS: We performed a retrospective chart review of children under the age of 18 years who visited our eye-related emergency department between March 17 and June 7, 2020 and between March 18 and June 9, 2019. This was a descriptive and comparative analysis of the two study periods based on the demographic characteristics of patients and the diagnosis reported by the ophthalmologist in the digital medical charts. One of the investigators performed a second reading of the files to homogenize the diagnosis classification based on the most frequently found items. RESULTS: In total, 754 children were seen in our eye-related emergency department during the 2020 study period versus 1399 in 2019, representing a 46% decrease. In 2019, the four main diagnoses were traumatic injury (30%), allergic conjunctivitis (15%), infectious conjunctivitis (12%), and chalazion/blepharitis (12%). In the 2020 study period there was a significant decrease in the proportion of patients presenting with traumatic injuries (p < 0.001), infectious conjunctivitis (p = 0.03), and chalazion/blepharitis (p < 0.001). Consultations for chalazion/blepharitis were the most affected by the pandemic, followed by traumatic injuries (-72% and -64%, respectively). The proportion of patients who required surgery after trauma was higher in 2020 than in 2019 (p < 0.01), but the absolute number of severe trauma cases remained stable. CONCLUSIONS: The COVID-19 pandemic was accompanied by a decrease in the overall use of a pediatric eye-related emergency services in Paris. Visits due to benign causes and ocular trauma also decreased, but visits for more severe pathologies were not affected. Longer-term epidemiological studies may confirm or refute a change in eye emergency department use habits.


Assuntos
Blefarite , COVID-19 , Calázio , Conjuntivite , Criança , Humanos , Adolescente , Estudos Retrospectivos , Paris/epidemiologia , Emergências , Pandemias , COVID-19/epidemiologia , Serviço Hospitalar de Emergência , Conjuntivite/epidemiologia
12.
Am J Ophthalmol ; 255: 1-6, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37433352

RESUMO

PURPOSE: To describe a new surgical technique and outcomes of lens-sparing vitrectomy and retrolental stalk dissection in posterior persistent fetal vasculature (PFV). DESIGN: Retrospective interventional case series. METHODS: RESULTS: Among the 21 included eyes, 8 (38%) had no macular involvement and 4 (19%) presented with microphthalmia. Median age at the first surgery was 8 months (range: 1-113 months). Surgical success was obtained in 71.4% of cases (15 of 21). In the remaining cases, the lens was removed because of capsular rupture in 2 cases (9.5%) and a large capsular opacity after stalk removal or an adherent stalk impossible to dissect in 4 cases (19.1%). In the capsular bag, IOL implantation was accomplished for all but 1 eye. None of the eyes developed retinal detachment or required glaucoma surgery. Endophthalmitis occurred in 1 eye. Secondary lens aspiration was needed in 3 eyes after a mean interval of 10.7 months following initial surgery. At last follow-up, half of the eyes remained phakic. CONCLUSION: Lens-sparing vitrectomy is a useful approach to addressing the retrolental stalk in selected cases of persistent fetal vasculature syndrome. By delaying or avoiding lens extraction, this approach allows preservation of accommodation, reduction of the risk of aphakia, glaucoma, and development of secondary lens reproliferation.

13.
JAMA Ophthalmol ; 141(6): 604-605, 2023 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-37166783

RESUMO

This case series estimates the annual incidence of pediatric eye injuries associated with recreational use of nonpowder guns at an ophthalmologic emergency department in France.


Assuntos
Traumatismos Oculares , Armas de Fogo , Ferimentos por Arma de Fogo , Criança , Humanos , Incidência , Traumatismos Oculares/etiologia , Traumatismos Oculares/complicações , Ferimentos por Arma de Fogo/epidemiologia , Estudos Retrospectivos
14.
Ophthalmology ; 130(8): 844-853, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37044159

RESUMO

PURPOSE: To describe clinical features, management, and outcomes of posterior persistent fetal vasculature (PFV) and suggest a management algorithm. DESIGN: Retrospective, consecutive case series. PARTICIPANTS: All children diagnosed with posterior PFV and treated or followed at the Rothschild Foundation Hospital in France between June 2011 and September 2021. METHODS: Retrospective analysis of the clinical characteristics of posterior PFV. We reported age, gender, presenting symptoms, intraocular pressure, and visual acuity (VA) at diagnosis. Patients were divided into 4 groups depending on the severity and involvement or not of anterior segment. We reported the vitreoretinal surgical techniques used. MAIN OUTCOME MEASURES: Anatomic results, ocular hypertension, best-corrected distance visual acuity (BCDVA), presence of postoperative adverse events, and additional surgical interventions were recorded at each follow-up visit. RESULTS: Ninety-six patients were included. The median age at diagnosis was 8 months (IQR = 12), mean 18.9 ± 30.9 months) with a mean follow-up of 27 ± 31.2 months. Although PFV is often an isolated disease, it was associated with a systemic disease in 8% of cases. There was anterior involvement in 62 (64%) of eyes. Forty-one eyes (42.7%) were microphthalmic and more frequently associated with severe PFV (53% vs. 25%; P = 0.01). Surgery was performed in 85 patients (89%). Of them, 69 (81%) had a total success, 5 (6%) had a partial success due to persistent limited peripheral retinal detachment (RD), and 11 (13%) had a failure due to persistent total RD after surgery. Postoperative adverse events occured in 38 eyes including ocular hypertension requiring eye drop medication (7.1%), secondary cell proliferation around the intraocular lens (8.2%), intravitreal hemorrhages (7.1%), and persistent tractional RD (10.6%). Second surgery was performed in 18 patients (21%). At last follow-up, VA could be measured in logarithm of the minimum angle of resolution in 43 children (45%), light perception in 21 eyes (22%), and no light perception or impossible to assess in 32 eyes (33%). CONCLUSIONS: In our case series, most patients presenting with posterior PFV received complex vitreoretinal surgery. Goals of the surgery vary and include retinal flattening, reduction of vitreoretinal traction, freeing of visual axis, and aesthetic concerns. We propose a surgical and medical management algorithm for PFV. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.


Assuntos
Glaucoma , Vítreo Primário Hiperplásico Persistente , Descolamento Retiniano , Criança , Humanos , Lactente , Estudos Retrospectivos , Vitrectomia , Vítreo Primário Hiperplásico Persistente/diagnóstico , Vítreo Primário Hiperplásico Persistente/cirurgia , Vítreo Primário Hiperplásico Persistente/complicações , Resultado do Tratamento , Descolamento Retiniano/cirurgia , Glaucoma/cirurgia , Complicações Pós-Operatórias/cirurgia
15.
Front Med (Lausanne) ; 10: 987505, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36910482

RESUMO

Purpose: The study aimed to assess the safety and the non-inferiority of cataract surgery outside an operating room using the Surgicube®, a mobile laminar airflow (LAF) device. Settings: This single-center study was conducted at the Rothschild Foundation, Paris, France. Design: This is a retrospective cross-sectional study. Methods: All patients operated on for cataracts using the Surgicube® between February 2020 and February 2021 were included and controlled by a cohort of patients operated on for cataracts in the traditional theater during the same period. Patients with a postoperative follow-up of less than 1 month were excluded. Data collection was carried out using the patient's medical record. The primary endpoint was the evaluation of the number of endophthalmitis in the two groups. The secondary judgment criteria were the analysis of the various complications and the Logmar visual acuity at 1 month in the two groups. All the patients underwent an OCT retinal examination. Results: A total of 923 randomized patients who underwent cataract surgery between 2020 and 2021 have been included in the study. Among them, 448 patients were operated on using the Surgicube, and 475 patients underwent surgery in the traditional operating room using the same lens phacoemulsification technique. There are no significant differences between the two groups (p > 0.05). Conclusion: Cataract surgery using the Surgicube® outside a conventional operating room seems non-inferior to conventional scrub.

16.
Am J Med Genet A ; 191(5): 1373-1377, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36734406

RESUMO

Persistent fetal vasculature (PFV) is a rare malformative ocular disorder resulting from the failure of the hyaloid vasculature to regress. The severity of the visual impairment is depending on the underlying eye defects, ranging from discreet hyaloid remnants to severe ocular anomalies. Although PFV is generally unilateral, sporadic and idiopathic, a genetic cause has been described in some individuals, especially those presenting with a bilateral and/or syndromic form of PFV. The genes occasionally described in PFV are most often responsible for a wide spectrum of ocular phenotypes such as ATOH7 or NDP, a gene also known to be involved in Norrie disease, a X-linked vitreoretinopathy with extra-ocular features. We describe here a patient with an ocular phenotype consisting in non-syndromic bilateral PFV with cataract and microphthalmia, in whom a recurrent heterozygous de novo MIP disease-causing variant was detected after using a dedicated 119-ocular genes panel approach. Defects in the MIP gene are classically associated with dominant non-syndromic congenital cataract without other ocular malformative features. Thus, this case highlights the value of exploring individuals with PFV, even those with non-syndromic forms. It also broadens the phenotypic spectrum of the MIP gene, adding new insights into the gene networks underlying PFV pathophysiology, that remains unclear.


Assuntos
Extração de Catarata , Catarata , Microftalmia , Vítreo Primário Hiperplásico Persistente , Humanos , Catarata/diagnóstico , Catarata/genética , Catarata/congênito , Olho , Microftalmia/diagnóstico , Microftalmia/genética , Vítreo Primário Hiperplásico Persistente/diagnóstico , Vítreo Primário Hiperplásico Persistente/genética , Vítreo Primário Hiperplásico Persistente/cirurgia
17.
Retina ; 43(2): 348-355, 2023 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-36695803

RESUMO

PURPOSE: To describe clinical characteristics and outcomes of children with early-onset X-linked retinoschisis. METHODS: In this retrospective consecutive case series, we included children diagnosed with symptomatic X-linked retinoschisis younger than 2 years. Presenting signs, clinical characteristics, treatments, and outcomes were recorded. RESULTS: Seven patients (14 eyes) with a mean age of 17.14 ± 6.28 months were included. Strabismus was the most common presenting symptom (6 of 7 patients, 86%). Clinical signs at the first diagnosis included peripheral retinoschisis in 13 eyes (13/14, 93%), of which 5 (5/13, 38%) were bullous, vitreous hemorrhage in 3 eyes (3/14, 21%), and retinal detachment in 3 eyes (3/14, 21%). The macula was involved in all eyes: It was detached in 2 eyes (2/14, 14%) and involved in the peripheral schisis in 4 eyes (4/14, 29%). In all remaining eyes, optical coherence tomography revealed foveoschisis. Six eyes (6/14, 42%) received surgery. At the last follow-up, visual acuity, when available, ranged from no light perception to 20/40, and no children had persistent retinal detachment. CONCLUSION: Children with early-onset X-linked retinoschisis had severe forms. All children had peripheral retinoschisis which was often bullous and extended to the macula. Diagnosis is often clinical but handheld optical coherence tomography can be helpful in atypical forms. Complications requiring surgical management are frequent.


Assuntos
Macula Lutea , Descolamento Retiniano , Retinosquise , Pré-Escolar , Humanos , Lactente , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/etiologia , Descolamento Retiniano/cirurgia , Retinosquise/diagnóstico , Retinosquise/genética , Retinosquise/cirurgia , Estudos Retrospectivos , Tomografia de Coerência Óptica , Idade de Início , Resultado do Tratamento
18.
Eur J Ophthalmol ; 33(1): 514-523, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35816395

RESUMO

PURPOSE: To report on the outcome of surgical submacular choroidal neovascular membrane (CNV) removal in children and to perform a comprehensive review of literature concerning this intervention in children. METHODS: In this retrospective, noncomparative, interventional case series, we included 8 eyes of 7 consecutive children with subfoveal choroidal neovascularization treated by pars plana vitrectomy (PPV) and CNV removal. Main outcome measures were visual acuity and complications. RESULTS: Mean age at surgery was 8.6 ± 5.2 years (range: 2-16). Two out of 8 eyes were idiopathic. Corrected-distance visual acuity (CDVA) improved from 1.01 ± 0.45logMAR (range:0.3-1.5) at presentation to 0.60 ± 0.37 (range:0-1) at last follow-up (p = 0.03). Mean follow-up was 3.9 ± 3.9 years. Six eyes received at least one intravitreal injection of bevacizumab prior to surgery. Recurrence occurred in one eye with Best's disease.Literature review revealed a total of 42 cases with the most frequent etiologies being Presumed ocular histoplasmosis syndrome (POHS) and idiopathic CNV. Considering all cases together, mean CDVA improved from 1.00 ± 0.37logMAR to 0.52 ± 0.42 (p < 0.01). CNV recurrence occurred in 11 eyes (22.0%), 7 of which had an inflammatory etiology. Other complications included pigment epithelium tear, atrophy and retinal tear. CONCLUSION: Surgical removal of CNV is a viable, effective and safe option in children with persistent submacular neovascular membranes.


Assuntos
Neovascularização de Coroide , Humanos , Criança , Pré-Escolar , Adolescente , Estudos Retrospectivos , Seguimentos , Neovascularização de Coroide/cirurgia , Neovascularização de Coroide/etiologia , Corioide/irrigação sanguínea , Vitrectomia/efeitos adversos , Angiofluoresceinografia , Resultado do Tratamento
19.
J Neurosurg Anesthesiol ; 35(4): 417-422, 2023 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-35543619

RESUMO

BACKGROUND: During the first wave of the coronavirus disease-2019 (COVID-19) pandemic, it was necessary to prepare for the possibility of triaging patients who could benefit from access to an intensive care unit (ICU). In our neuroscience institution, the challenge was to continue to manage usual neurological emergencies as well as the influx of COVID-19 patients. METHODS: We report the experience of an ethical consulting unit to support care clinical decisions during the first wave of the pandemic (March 16 to April 30, 2020). Three objective evaluation criteria were defined: 2 of these criteria, patient's factors and general disease severity (Simplified Acute Physiology Score II), were common to all patients, and the third was the specific severity of the disease (neurological for brain injury, respiratory for COVID-19). Given our scarce resources, we used a high probability of a 3-month modified Rankin Scale ≤3 as the criterion for further resuscitation and management. RESULTS: A total of 295 patients were admitted during the first pandemic wave; 111 with COVID-19 and 184 with neurological emergencies. The ethical unit's expertise was sought for 75 clinical situations in 56 patients (35 COVID-19 and 21 neurological). Decisions were as follows: 11% no limitation on care, 5% expectant care with reassessment (maximum therapy to assess possible progress pending decision), 67% partial limitation (no intensification of care or no transfer to ICU), and 17% limitation of curative care. At no time did a lack of availability of ICU beds require the ethical unit to advise against admission to the ICU. CONCLUSIONS: Our ethical consulting unit allowed for collegial ethical decision-making in line with international recommendations. This model could be easily transferred to other triage situations, provided it is adapted to the local context.


Assuntos
COVID-19 , Humanos , Pandemias , Emergências , Unidades de Terapia Intensiva , Hospitais
20.
Front Med (Lausanne) ; 9: 879110, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35991629

RESUMO

Purpose: To compare clinical characteristics at presentation and outcomes of Coats disease between females and males. Methods: In this retrospective, consecutive case series we included all children diagnosed with Coats disease in a single tertiary referral center. Initial clinical presentation, treatment and outcomes were collected. Results: A total of 158 children were included, of whom 29 (18.3%) were females and 11 (6.9%) had bilateral involvement. Age at diagnosis and disease stage were similar between females and males. Females had more bilateral involvement (p < 0.001) and tended to have a worse visual acuity at diagnosis (p = 0.05). At last follow-up, visual acuity and anatomical outcome after treatment were similar between genders. Conclusion: Female patients with Coats disease had more bilateral involvement and tended to have worse visual acuity at presentation. Clinical presentation and outcomes seemed to be similar between genders.

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