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1.
World Allergy Organ J ; 17(1): 100855, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38283996

RESUMO

Vernal keratoconjunctivitis (VKC) is a bilateral ocular inflammatory disease with a conjunctival and corneal involvement and typical onset during childhood. Eosinophilic esophagitis (EoE) is a chronic disease characterized by eosinophilic inflammation of the mucosa (≥15 eosinophils/HPF) and symptoms of esophageal dysfunction. EoE and VKC are both immune-mediated diseases sharing a similar pathogenetic mechanism and a high association with other allergic diseases. Nevertheless, no data are currently available about their clinical association. We present 4 cases of concomitant diagnosis of vernal keratoconjunctivitis and eosinophil esophagitis suggesting that these conditions may coexist in the same patient more frequently than expected. Health care providers should be aware of the possibility of co-occurrence in their daily practice.

2.
BMC Ophthalmol ; 23(1): 106, 2023 Mar 17.
Artigo em Inglês | MEDLINE | ID: mdl-36932345

RESUMO

BACKGROUND: Down syndrome (DS) or Trisomy 21 is the most common chromosomal disease and is characterized by possible heart defects, cognitive impairment and visual disorders. CASE PRESENTATION: We describe for the first time a 17-year-old Caucasian girl suffering from Down syndrome associated with vernal keratoconjunctivitis (VKC), a rare disorder of the anterior segment of the eye, characterized by intense photophobia, redness, watering eyes and itching due to an inflammatory-allergic reaction of the cornea and conjunctiva. On slit-lamp examination, the girl showed conjunctival hyperemia, papillary hypertrophy, giant papillae and corneal leukoma in right eye as a result of a previous corneal ulcer. A successful topical immunosuppressant therapy with cyclosporin 1% was started. CONCLUSION: So far, to our knowledge, this is the first description of VKC in a patient with DS. Finding an inflammatory-allergic disease such as VKC in DS is unusual but it must be taken into account because keratoconus, one of the most frequent eye pathologies in DS, can be secondary to an unrecognized VKC.


Assuntos
Conjuntivite Alérgica , Síndrome de Down , Feminino , Humanos , Adolescente , Conjuntivite Alérgica/complicações , Conjuntivite Alérgica/diagnóstico , Síndrome de Down/complicações , Síndrome de Down/patologia , Túnica Conjuntiva/patologia , Ciclosporina/uso terapêutico , Córnea/patologia , Inflamação
3.
Eur J Ophthalmol ; 33(1): NP47-NP50, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34533388

RESUMO

PURPOSE: To evaluate an original approach for treating corneal ectasia and irregular astigmatism secondary to penetrating trauma in a pediatric patient. CASE REPORT: An 11 year old patient had a penetrating trauma in right eye when he was two and the refractive error was +1.50 diopters sphere -6.00 diopters cylinder axis 95°. To correct irregular astigmatism, the patient underwent simultaneous transepithelial topographic-guided laser Central Corneal Remodeling (CCR) and Corneal Cross-linking (CXL) in the attempt to regularize corneal ectasia and to improve the quality of vision. Uncorrected and Corrected Distance Visual Acuity were measured using Efficacy and Safety indexes; objective and subjective qualities of vision were evaluated using respectively corneal morphological irregularity index and National Eye Institute Visual Function questionnaires. CONCLUSIONS: Twelve month follow up suggests that simultaneous CCR and CXL could be effective to improve the quality of vision and to halt the progression of post-traumatic ectasia in pediatric patients.


Assuntos
Astigmatismo , Masculino , Humanos , Criança , Astigmatismo/cirurgia , Dilatação Patológica , Topografia da Córnea , Córnea , Refração Ocular , Lasers de Excimer , Reagentes de Ligações Cruzadas
4.
Diagnostics (Basel) ; 12(12)2022 Dec 17.
Artigo em Inglês | MEDLINE | ID: mdl-36553212

RESUMO

Inner macular layers are the most involved in the retinal distortion caused by idiopathic epiretinal membrane (iERM). They represent the anatomical structures in which the superficial (SCP) and deep (DCP) capillary plexus are embedded. We quantified flow signal (FS) in these capillary plexuses using Swept Source OCT angiography to identify possible markers for postoperative outcome. The software ImageJ was used to quantify the FS in a 150 µm radius area around each point analyzed by MAIA microperimeter. In 16 patients with unilateral iERM, focal light sensitivity (FLS) in the para- and perimacular areas was measured to evaluate macular function in 24 points overlapping macular plexuses and compared with normal fellow eyes (FEs). t-Test for independent samples iERM eyes (iERMEs) vs. fellow eyes (FEs) and Pearson correlation coefficient of FS vs. FLS in each point were calculated. A level of p < 0.05 was accepted as statistically significant. As a whole, FLS was significantly higher in FEs vs. ERMEs (p < 0.001); FS in both SCP and DCP was not significantly different between ERMEs and FEs (p = 0.827, p = 0.791). Correlation in focal retinal areas between FLS and FS in ERMEs was significant in SCP (p = 0.002) and not significant in DCP (p = 0.205); in FEs was significant in both SCP (p < 0.001) and DCP (p = 0.022). As previously described, these defective areas were located mainly in sites of distortion of retinal layers; therefore, it can be hypothesized that a focal change in FS, occurring mostly in SCP, could be involved in the onset of the functional defect.

5.
Eur J Ophthalmol ; : 11206721221128670, 2022 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-36189925

RESUMO

AIM: to assess the effectiveness of a new combination of topical solution with Hyaluronic Acid 0.2% and arnica extract 0.1% in reducing dry eye symptoms in a population of pediatric patients. METHODS: 52 pediatric patients (aged 9 to 14 years) with signs and symptoms of dry eyes and allergic conjunctivitis were included in the study. Twenty-six patients were assigned to the Hyaluronic Acid 0.2%/ Arnica extract 0.1% group (Study Group) while 26 patients to the Hyaluronic Acid 0.2% group (Control Group). Clinical signs and symptoms were assessed at baseline and at week 4. The assessment plan included: slit-lamp examination, tear film break up time (TBUT), Schirmer's test and conjunctival hyperemia score. Ocular surface disease index (OSDI) score was used to evaluate subjective symptoms of dry eye disease. RESULTS: Both treatment groups showed improvements in the estimated clinical parameters after treatment. OSDI score was significantly lower in both treatment groups (Study group p = 0.02; Control group p = 0.04) at the end of the follow up period. Improvements in TBUT, Schirmer's test results and conjunctival hyperemia were statistically significant only in the Study group (p = 0.021; p = 0.03; p < 0.01 respectively). CONCLUSIONS: Preliminary findings suggest that combined topical Hyaluronic Acid 0.2% and arnica extract 0.1% can be effective in reducing symptoms and signs of dry eye disease in children.

6.
Diagnostics (Basel) ; 12(9)2022 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-36140584

RESUMO

Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal degeneration mainly associated with pathogenic variations in the NR2E3 gene. Only a few pathogenic variations in the NRL gene associated with ESCS have been reported to date. Here, we describe the clinical and genetic findings of two unrelated pediatric patients with a novel frameshift homozygous variant in the NRL gene. Fundus examinations showed signs of peripheral degeneration in both patients, more severe in Proband 2, with relative sparing of the macular area. Spectral domain optical coherence tomography (SD-OCT) revealed a significant macular involvement with cysts in Proband 1, and minimal foveal alteration with peripheral retina involvement in Proband 2. Visual acuity was abnormal in both patients, but more severely affected in Proband 1 than Proband 2. The electroretinogram recordings showed reduced scotopic, mixed and single flash cone responses, with a typical supernormal S-cone response, meeting the criteria for a clinical diagnosis of ESCS in both patients. The present report expands the clinical and genetic spectrum of NRL-associated ESCS, and confirms the age-independent variability of phenotypic presentation already described in the NR2E3-associated ESCS.

7.
World Allergy Organ J ; 15(10): 100701, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36117875

RESUMO

Background: Vernal keratoconjunctivitis (VKC) is a chronic, inflammatory-allergic disease of the cornea and conjunctiva. Environmental factors, such as light exposure, have been supposed to play a role in the pathogenesis of ocular inflammation and in the worsening of VKC. Objective: The aim of this study was to estimate the impact of reduced sunlight exposure in patients with VKC during the imposed lockdown period for the SARS-CoV-2 pandemic emergency. Methods: We retrospectively reviewed data of patients with VKC visited during spring season in 2020 and 2019 at Vernal Keratoconjunctivitis Multidisciplinar Outpatient of our Hospital.Subjective symptoms were evaluated by Visual analogue scale (VAS) and VKC severity was graded by Bonini scale. Quality of life was evaluated by Correlations of Quality of Life in Children with Vernal Keratoconjunctivitis (QUICK) questionnaire. The number of hours of e-learning as well as of hours spent in front of a bright screen (PC, TV, mobile, tablet play station, and so on) was also investigated. Results: Twenty-nine male subjects (mean ± SD age: 8.74 ± 2.40 years) with VKC were included in the study. Most of the patients (17/29) were sensitized individuals.No significant changes in Bonini severity score and in VAS evaluation were observed comparing 2020 to 2019 values. Ten (34.4%) patients did benefit from the reduced sunlight exposure. The increased use of bright screens was associated with worsening of VKC severity. Conclusions: Sunlight exposure plays a role in VKC exacerbation in about one third of patients. The number of hours spent in front of bright screens may influence severity of VKC symptoms.

8.
Front Genet ; 13: 914345, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35836572

RESUMO

Purpose: Describing the clinical and genetic features of an ethnically heterogeneous group of (inherited retinal diseases) IRD patients from different underrepresented countries, referring to specialized Italian Hospitals, and expanding the epidemiological spectrum of the IRD in understudied populations. Methods: The patients' phenotypes underwent were characterized by exhaustive ophthalmological examinations, including morpho-functional testing. Genetic testing was performed using next-generation sequencing (NGS) and gene sequencing panels targeting a specific set of genes, Sanger sequencing and-when necessary-multiplex ligation-dependent probe amplification (MLPA) to better identify the genotype. When possible, segregation analysis was performed in order to confirm unsolved cases. Results: The article reports the results of the phenotypes and genotypes of 123 IRD probands, 69 males and 54 females, mean age 41 (IQR, 54-30) years, disease onset at 13 (IQR, 27.25-5) years. Thirty-three patients out of 123 (26.8%) were Africans (North/Northwest Africa), 21 (17.1%) Asians, 19 (15.4%) Americans (South/Central America) and 50 (40.7%) Europeans (Eastern Europe). Retinitis pigmentosa was the most represented phenotype (56%), followed by cone dystrophy (11%) and Leber congenital amaurosis (7%), while ABCA4 was the most frequently mutated gene (18%), followed by USH2A (9%) and RPGR (5%). About ABCA4 variants found in Stargardt disease, macular and cone dystrophies were predominant in Asian (42%) and European (21%) patients. The most represented inheritance pattern was autosomal recessive, while a higher frequency of homozygous patients versus compound heterozygotes as compared to previous studies on Italian IRD patients was evidenced, reflecting a possible higher frequency of inbreeding marriages. Conclusion: Though limited by the relatively low number of patients, the present paper paints a picture of the clinical and genetic features of IRD patients from understudied ethnic groups referred to Italian specialized hospitals and extended the epidemiological studies on underrepresented world regional areas.

9.
Sci Rep ; 12(1): 8840, 2022 05 25.
Artigo em Inglês | MEDLINE | ID: mdl-35614310

RESUMO

Aim of the study was to assess: (a) the prevalence and type of strabismus, ptosis and eyelid dynamic disorders features, (b) the prevalence of refractive errors, amblyopia and, (c) their association with ocular/systemic syndromes in a cohort of patients. This is a retrospective observational multicenter cohort study. Patients with coexisting ocular motility disorders, comitant and incomitant strabismus, ptosis and dynamic eyelid disorders who have never undergone surgery were enrolled throughout a 3-years a study period. 137 out of 19,089 patients were enrolled, of which 97 with uniocular and 40 with binocular disease. Isolated congenital ptosis was observed in 84 patients. A polymalformative syndrome was present in almost one third of cases, whilst among strabismus type, esotropia was slightly more prevalent. Most patients were hypermetropic. In monocular disease, myopia mainly affected older patients, who were characterized by a worse ptosis margin reflex distance and levator function, and significantly higher astigmatism. Amblyopia occurred in 67.4% of the study sub-population. Of note, in monocular disease this was mild in 25.8%, moderate in 24.2% and severe in 11.3% of cases, whilst in binocular disease it was mild in 25%, moderate in 41.7% and severe in 16.7%. All patients with coexisting eyelid and ocular motility dysfunctions in pediatric age need ophthalmologic and systemic evaluation to accurately assess amblyopia, refractive errors and systemic/ocular disorders.


Assuntos
Ambliopia , Blefaroptose , Erros de Refração , Estrabismo , Ambliopia/epidemiologia , Blefaroptose/congênito , Criança , Estudos de Coortes , Pálpebras , Humanos , Erros de Refração/complicações , Erros de Refração/epidemiologia , Estudos Retrospectivos , Estrabismo/epidemiologia , Estrabismo/cirurgia , Síndrome
10.
Medicina (Kaunas) ; 58(5)2022 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-35630074

RESUMO

Neurotrophic keratitis is a rare degenerative disease of the cornea that can lead to corneal ulceration, scarring, and significant visual impairment. It most commonly occurs in adults and is rarely diagnosed in children. Congenital corneal anesthesia is an extremely rare condition that requires appropriate ophthalmologists' attention in making diagnosis and treatment decisions. This condition usually presents in infancy or early childhood and is characterized by rare blinking rate, decreased tearing or a corneal ulcer that is unresponsive to treatment. In this case report, we describe a patient with multiple systemic and neurological disorders who presented to the ophthalmology department due to corneal erosion unresponsive to treatment. Brain magnetic resonance imaging confirmed bilateral trigeminal hypoplasia and the diagnosis of neurotrophic keratopathy due to bilateral congenital corneal anesthesia was made. The discrepancy between clinical signs and symptoms or treatment non-response in cases of corneal erosions should alert the ophthalmologists to suspect trigeminal dysfunction. MRI is the gold standard to confirm congenital corneal anesthesia and to differentiate from other possible neurotrophic keratitis causes.


Assuntos
Anestesia , Distrofias Hereditárias da Córnea , Úlcera da Córnea , Surdez , Deficiência Intelectual , Ceratite , Doenças Metabólicas , Adulto , Anestesia/efeitos adversos , Criança , Pré-Escolar , Úlcera da Córnea/diagnóstico , Úlcera da Córnea/tratamento farmacológico , Úlcera da Córnea/etiologia , Humanos , Deficiência Intelectual/complicações , Ceratite/complicações , Ceratite/diagnóstico , Ceratite/terapia , Hipotonia Muscular/complicações , Síndrome
11.
Invest Ophthalmol Vis Sci ; 63(2): 13, 2022 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-35129589

RESUMO

Purpose: To investigate the course of inherited retinal degenerations (IRD) due to mutations in the RPE65 gene. Methods: This longitudinal multicentric retrospective chart-review study was designed to collect best corrected visual acuity (BCVA), Goldman visual field, optical coherence tomography (OCT), and electroretinography (ERG) measurements. The data, including imaging, were collected using an electronic clinical research form and were reviewed at a single center to improve consistency. Results: From an overall cohort of 60 Italian patients with RPE65-associated IRD, 43 patients (mean age, 27.8 ± 19.7 years) were included and showed a mean BCVA of 2.0 ± 1.0 logMAR. Time-to-event analysis revealed a median age of 33.8 years and 41.4 years to reach low vision and blindness based on BCVA, respectively. ERG (available for 34 patients) showed undetectable responses in most patients (26; 76.5%). OCT (available for 31 patients) revealed epiretinal membranes in five patients (16.1%). Central foveal thickness significantly decreased with age at a mean annual rate of -0.6%/y (P = 0.044). We identified 43 different variants in the RPE65 gene in the entire cohort. Nine variants were novel. Finally, to assess genotype-phenotype correlations, patients were stratified according to the number of RPE65 loss-of-function (LoF) alleles. Patients without LoF variants showed significantly (P < 0.05) better BCVA compared to patients with one or two LoF alleles. Conclusions: We described the natural course of RPE65-associated IRD in an Italian cohort showing for the first time a specific genotype-phenotype association. Our findings can contribute to a better management of RPE65-associated IRD patients.


Assuntos
DNA/genética , Mutação , Distrofias Retinianas/genética , Acuidade Visual , Campos Visuais , cis-trans-Isomerases/genética , Adolescente , Adulto , Criança , Pré-Escolar , Análise Mutacional de DNA , Eletrorretinografia , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Incidência , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Distrofias Retinianas/diagnóstico , Distrofias Retinianas/epidemiologia , Estudos Retrospectivos , Tomografia de Coerência Óptica , Adulto Jovem , cis-trans-Isomerases/metabolismo
12.
Ocul Immunol Inflamm ; 30(1): 234-240, 2022 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-32835577

RESUMO

PURPOSE: To evaluate the efficacy of Ozurdex implant by analyzing macular morphology and function in pediatric uveitis and related cystoid macular edema (CMO). METHODS: Main outcomes were visual acuity, mfERG and photopic ERG response, and central macular thickness. Mean values recorded at each time-point were compared to baseline and correlations between functional and anatomical parameters were evaluated. RESULTS: Resolution of intraocular inflammation and CMO was achieved in all eyes 1 month after implant without procedure or drug-related complications. Mean visual acuity and mfERG amplitude improved showing a statistically significant difference to baseline values for the first 4 months. Mean central macular thickness showed a statistically significant reduction for all follow-up time. Photopic ERG did not vary significantly. Statistically significant correlation was found between trends of visual acuity, central macular thickness, and mfERG responses. CONCLUSION: Correlation found between macular morphology and function confirms the efficacy of Ozurdex in pediatric uveitis.


Assuntos
Edema Macular , Uveíte Intermediária , Uveíte , Criança , Dexametasona/uso terapêutico , Implantes de Medicamento , Seguimentos , Glucocorticoides/uso terapêutico , Humanos , Injeções Intravítreas , Edema Macular/diagnóstico , Edema Macular/tratamento farmacológico , Edema Macular/etiologia , Estudos Retrospectivos , Uveíte/complicações , Uveíte/diagnóstico , Uveíte/tratamento farmacológico , Uveíte Intermediária/complicações , Uveíte Intermediária/diagnóstico , Uveíte Intermediária/tratamento farmacológico
13.
J Cataract Refract Surg ; 48(1): 56-60, 2022 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-34054076

RESUMO

PURPOSE: To assess the impact on visual development of multifocal vs monofocal intraocular lenses (IOLs) implantation in children after congenital cataract surgery. SETTING: Ophthalmology Department, Bambino Gesù Children's Hospital, Rome, Italy. DESIGN: Retrospective interventional consecutive case series. METHODS: Records of 56 eyes of 43 pediatric patients who underwent congenital cataract surgery with phacoaspiration and simultaneous implantation of the IOL younger than 1 year were reviewed. Corrected distance visual acuity (CDVA), refractive error, and ocular motility disorders were evaluated at follow-up of greater than 4 years. RESULTS: 32 multifocal (18 unilateral, Group A and 14 bilateral, Group B) and 24 monofocal (12 unilateral, Group C and 12 bilateral, Group D) IOLs were implanted. Mean follow-up was 6.67 years. Mean CDVA of the eyes with multifocal IOLs was 0.75 ± 0.46 logMAR in unilateral cataract surgery and 0.34 ± 0.25 logMAR in bilateral ones; with monofocal IOLs was 0.71 ± 0.52 logMAR in unilateral and 0.53 ± 0.43 logMAR in bilateral ones. No statistically significant difference in the CDVA between Groups A and B and Groups C and D were recorded. Final mean spherical equivalent was -3.88 ± 4.73 diopters (D); in Group A, it was -2.74 ± 4.22 D, in Group C was -1.08 ± 1.45 D, in Group B was -4.82 ± 4.64 D, and in Group D was -6.81 ± 4.61 D. The difference was statistically significant between Groups B and D (P = .01), but not between Groups A and C (P = .14). 26 patients (60.4%) showed postoperative strabismus. Surgical correction occurred more in patients with multifocal IOLs implanted (P = .038). CONCLUSIONS: Multifocal IOLs did not show significant advantages in visual development in children after congenital cataract extraction younger than 1 year when compared with monofocal IOLs.


Assuntos
Extração de Catarata , Catarata , Lentes Intraoculares , Oftalmologia , Facoemulsificação , Criança , Humanos , Implante de Lente Intraocular , Desenho de Prótese , Estudos Retrospectivos
14.
J Pediatr Ophthalmol Strabismus ; 59(3): 187-191, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34928773

RESUMO

PURPOSE: To investigate the efficacy of combination therapy with laser photocoagulation, intravitreal ranibizumab, and sub-Tenon methylprednisolone acetate in patients presenting with advanced Coats' disease. METHODS: This was a retrospective analysis of 16 patients who underwent laser photocoagulation combined with intravitreal ranibizumab and sub-Tenon methylprednisolone acetate between 2008 and 2017. The primary outcome was anatomic success and the secondary outcomes were globe preservation and final visual acuity. RESULTS: The average age at surgery was 5.12 ± 2.7 years (range: 3 to 10 years). The mean follow-up time was 45.43 ± 29.01 months (range: 12 to 108 months). Of the 16 patients (16 eyes) reviewed, 6 patients had stage 3A and 10 patients had stage 3B Coats' disease. The mean number of applications was 10 (range: 4 to 18). Globe preservation was achieved in all patients. Final visual acuity outcomes were satisfactory: 20/20 to 20/50 in 2 patients, 20/60 to 20/100 in 1 patient, and 20/200 or worse in 13 patients. CONCLUSIONS: Intravitreal ranibizumab used in combination with laser photocoagulation and sub-Tenon methylprednisolone acetate could be an effective treatment option for patients with advanced Coats' disease. The combined therapy achieved anatomical success, globe preservation, and reasonable visual acuity outcomes. [J Pediatr Ophthalmol Strabismus. 2022;59(3):187-191.].


Assuntos
Telangiectasia Retiniana , Acetatos/uso terapêutico , Inibidores da Angiogênese/uso terapêutico , Seguimentos , Humanos , Injeções Intravítreas , Fotocoagulação a Laser , Lasers , Acetato de Metilprednisolona/uso terapêutico , Ranibizumab/uso terapêutico , Telangiectasia Retiniana/diagnóstico , Telangiectasia Retiniana/terapia , Estudos Retrospectivos , Fator A de Crescimento do Endotélio Vascular
15.
Invest Ophthalmol Vis Sci ; 62(10): 29, 2021 08 02.
Artigo em Inglês | MEDLINE | ID: mdl-34427622

RESUMO

Purpose: We evaluated a series of fellow eyes (FEs) in patients affected by unilateral idiopathic epiretinal membrane (IERM) with spectral-domain optical coherence tomography (SD-OCT) and OCT angiography (OCT-A) to determine if a previous defect in the inner retina is present before the mechanical damage to the inner limiting membrane (ILM) caused by posterior vitreous detachment. Methods: In patients with IERM (N = 39), ganglion cell layer (GCL) thickness in FEs was assessed with SD-OCT; in a subgroup (N = 25) the vessel density (VD) at the superficial (SCP) and deep capillary plexus (DCP) was assessed with swept-source OCT-A (SS-OCT-A). These values were then compared with 30 age-matched healthy control eyes (CEs). The statistical analyses used SPSS software version 15.0 (SPSS, Inc., Chicago, IL, USA). Data collected underwent 1-way ANOVA. A level of P < 0.05 was accepted as statistically significant. Results: The GCL thickness in the FEs was significantly lower than in CEs, with a significant thinning in all sectors except temporal ones (mean P < 0.001, superior P = 0.0002, superonasal P < 0.001, inferonasal P < 0.001, and inferior P = 0.002). The VD was significantly lower in the FEs in all sectors of SCP (mean P = 0.009, inner ring P = 0.028, and outer ring P = 0.007). Conclusions: GCL and SCP are significantly reduced in the FEs. These data suggest that a vascular defect in the SCP could cause a cellular loss in the inner retina that may determine the cascade events leading to the IERM proliferation; the diagnosis in a preclinical phase could provide a treatment strategy to prevent the progression of the disease.


Assuntos
Capilares/patologia , Membrana Epirretiniana/patologia , Angiofluoresceinografia/métodos , Macula Lutea/irrigação sanguínea , Vasos Retinianos/patologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Idoso , Membrana Epirretiniana/cirurgia , Feminino , Fundo de Olho , Humanos , Macula Lutea/patologia , Masculino , Estudos Retrospectivos , Vitrectomia/métodos
16.
Int J Mol Sci ; 22(16)2021 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-34445325

RESUMO

Blue cone monochromatism (BCM) is an X-linked recessive cone dysfunction disorder caused by mutations in the OPN1LW/OPN1MW gene cluster, encoding long (L)- and middle (M)-wavelength-sensitive cone opsins. Here, we report on the unusual clinical presentation of BCM caused by a novel mutation in the OPN1LW gene in a young man. We describe in detail the phenotype of the proband, and the subclinical morpho-functional anomalies shown by his carrier mother. At a clinical level, the extensive functional evaluation demonstrated in the proband the M/L cone affection and the sparing of S-cone function, distinctive findings of BCM. Interestingly, spectral-domain optical coherence tomography showed the presence of foveal hypoplasia with focal irregularities of the ellipsoid layer in the foveal area, reported to be associated with some cases of cone-rod dystrophy and achromatopsia. At a molecular level, we identified the novel mutation c.427T > C p.(Ser143Pro) in the OPN1LW gene and the common missense mutation c.607T > C (p.Cys203Arg) in the OPN1MW gene. In addition, we discovered the c.768-2_769delAGTT splicing variant in the GPR143 gene. To our knowledge, this is the first case of foveal hypoplasia in a BCM patient and of mild clinical affection in a female carrier caused by the concomitant effect of variants in OPN1LW/OPN1MW and GPR143 genes, thus as the result of the simultaneous action of two independent genetic defects.


Assuntos
Defeitos da Visão Cromática/genética , Proteínas do Olho/genética , Fóvea Central/anormalidades , Glicoproteínas de Membrana/genética , Opsinas de Bastonetes/genética , Adulto , Defeitos da Visão Cromática/patologia , Humanos , Masculino , Mutação , Linhagem
18.
Pediatr Allergy Immunol ; 32(6): 1271-1277, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33877712

RESUMO

BACKGROUND: Vernal keratoconjunctivitis (VKC) is a bilateral, chronic, allergic condition mostly affecting children. Clinical evaluations may not necessarily reflect the impact of the disease on the patients' health-related quality of life (HRQoL). We aimed to evaluate HRQoL in children at VKC diagnosis and to analyze correlations between HRQoL and clinical and laboratory variables. METHODS: We studied 5- to 12-year-old patients with VKC. Data on clinical history, instrumental eye evaluations, blood examinations, and visual analog scale (VAS) for the subjective symptoms were collected. HRQoL was assessed through a disease-specific validated Quality of Life in Children with Vernal Keratoconjunctivitis (QUICK) questionnaire. RESULTS: Seventy subjects were included in the analysis (female/male: 10/60; tarsal/mixed VKC form: 36/34). Clinical severity of VKC according to the Bonini scale was as follows: 14, mild; 36, moderate; and 20, severe. No significant difference was found concerning the distribution of patient age, gender, and history of allergic manifestations between tarsal and mixed VKC. A significant positive correlation was found between all QUICK scores and VAS scores, including different VAS subscale, while no significant correlation was found between QUICK scores and total sign scores, Schirmer's test, and corneal thickness. The presence of active severe VKC was not associated with worse HRQoL. CONCLUSIONS: Our evidence shows that VKC patients experience impairment of HRQoL, especially in relation to the perception of symptoms independently of the ophthalmologic changes found, and that the QUICK questionnaire could be a useful tool to evaluate HRQoL in children with VKC, which may improve patients' classification and management.


Assuntos
Conjuntivite Alérgica , Qualidade de Vida , Criança , Pré-Escolar , Conjuntivite Alérgica/diagnóstico , Feminino , Humanos , Masculino , Inquéritos e Questionários
19.
Cornea ; 39(12): 1592-1598, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32740004

RESUMO

PURPOSE: This review discusses the main aspects of pediatric keratoconus (KC) based on the current evidence to propose a guideline for helping early diagnosis and improving efficacy in treatment. METHODS: This literature review was performed using PubMed, Ovid, and Elsevier databases. For the database search, the primary entered term included "pediatric keratoconus," connected to descriptors such as "keratoconus," "screening," "corneal cross-linking" (CXL), and "keratoplasty." Peer-reviewed and scholarly resources including original scientific articles and review articles were included. RESULTS: The prevalence of KC changes among populations. The greatest incidence has been reported in Middle-Eastern populations, an estimate of incidence of 1/2,000 individuals per year. Scheimpflug imaging, optical coherence tomography, and slit-scan tomography are commonly used to detect early diagnosis. Epithelium-off CXL is the treatment that should be discussed as soon as there is evidence for disease progression. Actually, penetrating keratoplasty represents the more common technique of pediatric keratoplasty; however, deep anterior lamellar keratoplasty probably seems as the best surgical option because of healthy endothelium. Options to increase visual acuity thereafter include contact lens fitting and corneal implants. CONCLUSIONS: The review of the literature confirms that KC in children is more aggressive than that in adults. In the attempt to preserve a good visual acuity, guidelines for improving early diagnosis and appropriate treatment seem crucial.


Assuntos
Transplante de Córnea/métodos , Técnicas de Diagnóstico Oftalmológico , Ceratocone , Fotoquimioterapia/métodos , Adolescente , Criança , Pré-Escolar , Reagentes de Ligações Cruzadas , Diagnóstico Precoce , Feminino , Humanos , Lactente , Recém-Nascido , Ceratocone/diagnóstico , Ceratocone/epidemiologia , Ceratocone/terapia , Masculino , Fármacos Fotossensibilizantes/uso terapêutico , Prevalência
20.
J AAPOS ; 24(4): 212-215, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32531341

RESUMO

PURPOSE: To evaluate ocular manifestations and severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) prevalence in the tears of children with coronavirus disease 2019 (COVID-19). METHODS: A total of 27 pediatric patients with confirmed COVID-19 infection hospitalized from March 16 to April 15, 2020, at the Bambino Gesù Children's Hospital were enrolled in the study. At admission, all patients showed ocular manifestations. Reverse transcriptase-polymerase chain reaction from nasopharyngeal and conjunctival swabs were performed every 2-3 days before discharge. RESULTS: Of the 27 patients, 4 (15%) were asymptomatic, 15 (56%) showed respiratory symptoms, and 8 (30%) had gastrointestinal symptoms. At admission, nasopharyngeal swabs were positive for COVID-19 in all patients; on the second swabs, 7 children (26%) tested negative, and 20 remained positive for COVID-19. Ocular manifestations consistent with mild viral conjunctivitis were observed in 4 patients (15%). At first conjunctival swab, 3 patients (11%), 1 symptomatic and 2 asymptomatic for ocular infection, had positive findings for COVID-19; 2 became negative on the second test and 1 on the third. CONCLUSIONS: In our study cohort, ocular manifestations of COVID-19 seem to have had a milder clinical course in pediatric patients than in adults. Despite the low prevalence and rapid regression of viral presence in the conjunctiva, SARS-CoV-2 transmission through tears may be possible, even in patients without apparent ocular involvement.


Assuntos
COVID-19/epidemiologia , Infecções Oculares Virais/virologia , Pandemias , SARS-CoV-2/isolamento & purificação , Lágrimas/virologia , Eliminação de Partículas Virais , COVID-19/virologia , Criança , Pré-Escolar , Túnica Conjuntiva/virologia , Infecções Oculares Virais/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Prospectivos
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