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1.
Ophthalmol Sci ; 4(4): 100463, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38591050

RESUMO

Purpose: To determine the correlation between blood flow metrics measured by intravenous fluorescein angiography (IVFA) and the blood flow velocity index (BFVi) obtained by laser speckle contrast imaging (LSCI) in infants with retinopathy of prematurity (ROP). Design: Prospective comparative pilot study. Subjects: Seven eyes from 7 subjects with ROP. Methods: Unilateral LSCI and IVFA data were obtained from each subject in the neonatal intensive care unit. Five LSCI-based metrics and 5 IVFA-based metrics were extracted from images to quantify blood flow patterns in the same region of interest. Correlation between LSCI-based and IVFA-based blood flow metrics was compared between 2 subgroups of ROP severity: moderate ROP (defined as stage ≤ 2 without Plus disease) and severe ROP (defined as stage ≥3 or Plus disease). Main Outcome Measures: Pearson and Kendall rank correlation coefficients between IVFA and LSCI metrics; Student t test P values comparing LSCI metrics between "severe" and "moderate" ROP groups. Results: Pearson correlations between IVFA and LSCI included arterial-venous transit time (AVTT) and peak BFVi (pBFVi; r = -0.917; P = 0.004), AVTT and dip BFVi (dBFVi; r = -0.920; P = 0.003), AVTT and mean BFVi (r = -0.927- P = 0.003), and AVTT and volumetric rise index (r = -0.779; P = 0.039). Kendall rank correlation between AVTT and dBFVi was r = -0.619 (P = 0.051). pBFVi was higher in severe ROP than in moderate ROP (8.4 ± 0.6 and 4.4 ± 1.8, respectively; P = 0.0045 using the 2-sample t test with pooled variance and P = 0.0952 using the Wilcoxon rank-sum test). Conclusions: Correlation was found between blood flow metrics obtained by IVFA and noninvasive LSCI techniques. We demonstrate the feasibility of obtaining quantitative metrics using LSCI in infants with ROP in this pilot study; however, further investigation is needed to evaluate its potential use in clinical assessment of ROP severity. Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

3.
Transl Vis Sci Technol ; 12(11): 7, 2023 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-37922150

RESUMO

Purpose: The coronavirus disease 2019 (COVID-19) pandemic is projected to drive 1.5 million Americans toward homelessness, adding to the 3.5 million currently affected. Homelessness poses both socioeconomic and public health challenges because housing status is a social determinant of health. Given ophthalmic health's importance in daily functioning, we characterized ophthalmic disease and vision-related quality of life (VRQOL) among a population experiencing homelessness in Baltimore, Maryland. Methods: Questionnaires, including a Visual Function Index-14 (VF-14) for measuring VRQOL, were administered among patients seeking eye examinations at Health Care for the Homeless (HCH) from October 2018 to March 2020. Results: One hundred sixty-two participants were enrolled in this study. The average age was 53 years. Participants' most common vision concerns were blurry vision (70%) and desire for glasses (52%). Best corrected visual acuity (BCVA) measurements revealed significant vision loss (18%, P < 0.001). Physicians mostly diagnosed refractive error (77%), cataracts (36%), glaucoma/glaucoma suspect (25%), and dry eye (24%). Nearly half were referred to additional ophthalmic care (46%). VRQOL trends reflected functional vision categories (P = 0.042 and P = 0.021). The 1:1 VRQOL and BCVA comparison showed correlation (rho = -0.3, P < 0.001). Cronbach's alpha demonstrated VF-14 reliability (alpha = 0.92). Conclusions: We find high ophthalmic disease prevalence within a population experiencing homelessness. Comparison to studies worldwide reveals healthcare disparities despite healthcare system differences, suggesting a need for more targeted solutions. VF-14 is valid and reliable in assessing those experiencing homelessness. Intragroup VRQOL comparisons may reveal subgroup needs. It is imperative that future studies continue monitoring those experiencing homelessness. Translational Relevance: Validation of VF-14 will allow future studies to utilize this patient-oriented metric within populations experiencing homelessness.


Assuntos
Glaucoma , Pessoas Mal Alojadas , Hipertensão Ocular , Humanos , Pessoa de Meia-Idade , Qualidade de Vida , Prevalência , Baltimore/epidemiologia , Reprodutibilidade dos Testes , Transtornos da Visão/diagnóstico , Transtornos da Visão/epidemiologia
4.
J AAPOS ; 27(6): 369-372, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37777051

RESUMO

Congenital ocular anomalies may be detected on prenatal imaging using fetal ultrasound and magnetic resonance imaging (MRI), although standard prenatal ultrasound for fetal physical development does not currently include ocular and orbital evaluation. We present the case of a male infant born at 39 weeks' gestation with microphthalmia with cyst that was characterized using serial multimodal imaging, including fetal ultrasound and MRI, B-scan ultrasonography, ultrasound biomicroscopy, and postnatal MRI. Multiple prenatal and postnatal imaging modalities yielded comparable evaluations of the ocular and orbital pathology, validating the prenatal assessments.


Assuntos
Cistos , Microftalmia , Gravidez , Lactente , Feminino , Masculino , Humanos , Microftalmia/diagnóstico por imagem , Ultrassonografia Pré-Natal , Cistos/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Idade Gestacional
5.
J Pediatr Ophthalmol Strabismus ; 60(4): e35-e37, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37478202

RESUMO

A 2-year-old girl with severe muscular dystrophy presented with unilateral eye pain and corneal clouding. She was found to have absent red reflex, hypotonia, cerebral hypoplasia, and iris bombe on ultrasound biomicroscopy, a feature not previously reported in this syndrome. She responded favorably to surgical management. Iris bombe can be a cause of glaucoma in muscle-eye-brain disease. This highlights the importance of incorporating ultrasound biomicroscopy into the diagnostic algorithm of muscle-eye-brain disease and other types of congenital syndromic glaucoma. [J Pediatr Ophthalmol Strabismus. 2023;60(4):e35-e37.].


Assuntos
Glaucoma , Doenças da Íris , Síndrome de Walker-Warburg , Feminino , Humanos , Pré-Escolar , Iris/cirurgia , Iris/anormalidades , Síndrome de Walker-Warburg/complicações , Doenças da Íris/diagnóstico , Doenças da Íris/cirurgia , Glaucoma/diagnóstico , Glaucoma/etiologia , Glaucoma/cirurgia , Microscopia Acústica
6.
Int Ophthalmol ; 43(9): 3321-3328, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37217809

RESUMO

PURPOSE: We developed model eyes using six polymer materials to determine which materials were most appropriate in simulating real human sclera and extraocular muscle (EOM). METHODS: Five three-dimensional (3-D) printed polymers (FlexFill, PolyFlex, PCTPE, Soft PLA, and NinjaFlex) and one silicone material were systematically tested by board-certified ophthalmologists and senior ophthalmology residents. Material testing included scleral passes with 6-0 Vicryl sutures through each eye model. Participants completed a survey designed to collect demographic data, subjective assessment of each material's accuracy in simulating real human sclera and EOM, and a ranking for each polymer material to identify which would be most suitable for an ophthalmic surgery training tool. The Wilcoxon signed-rank test was conducted to determine if there was a statistically significant difference in the distribution of ranks between the polymer materials. RESULTS: The distribution of ranks for silicone material's "sclera" and "EOM" components were statistically significantly higher than that of all other polymer materials (all p < 0.05). Silicone material received the highest rank for both "sclera" and "EOM" components. Survey results indicated that the silicone material effectively simulated real human tissue. CONCLUSION: Silicone model eyes performed better than 3-D printed polymers as an educational tool for incorporation into a microsurgical training curriculum. Silicone models provide a low-cost teaching tool that allows for independent practice of microsurgical techniques without requiring a wet-laboratory facility.


Assuntos
Internato e Residência , Oftalmologia , Humanos , Polímeros , Competência Clínica , Oftalmologia/educação , Silicones
7.
J AAPOS ; 27(1): 55-57, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36638957

RESUMO

We present the case of a boy born at 41 weeks' gestational age who was found to have multiple anatomic anomalies, including abnormalities of the oral cavity, eyelids, and digits. He had ankyloblepharon that was localized to the lateral portion of the palpebral fissure bilaterally. Genetic testing confirmed a mutation in the interferon regulatory factor 6 (IRF6) gene, a known etiology for a spectrum of rare disorders that includes eyelid abnormalities. We present a novel surgical technique for bedside ankyloblepharon repair and describe the relevant clinical features of this case.


Assuntos
Anormalidades Múltiplas , Fissura Palatina , Doenças Palpebrais , Masculino , Recém-Nascido , Humanos , Pálpebras/cirurgia , Mutação , Anormalidades Múltiplas/genética , Testes Genéticos , Fissura Palatina/genética , Fissura Palatina/cirurgia , Fatores Reguladores de Interferon/genética
8.
J AAPOS ; 27(1): 39-42, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36516943

RESUMO

We report 3 cases of suspected abusive head trauma with retinal hemorrhages on fundus examination and neuroimaging findings not necessarily suggestive of shaking injury. Previous studies have suggested that retinal hemorrhages are rare in patients without neuroimaging abnormalities. These cases demonstrate some common features (rib fractures, developmental delay, and history of abuse) that may increase suspicion for abusive head trauma. Our findings suggest a potential role for ophthalmic consultation in scenarios with high clinical suspicion for abusive head trauma without definitive neuroimaging evidence of head injury. The nonspecific neuroimaging features of these 3 cases highlight the importance of interpreting cases with global clinical context.


Assuntos
Maus-Tratos Infantis , Traumatismos Craniocerebrais , Criança , Humanos , Lactente , Hemorragia Retiniana/diagnóstico , Maus-Tratos Infantis/diagnóstico , Traumatismos Craniocerebrais/diagnóstico , Neuroimagem
9.
Injury ; 54(2): 533-539, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36384857

RESUMO

Purpose Children represent approximately one-third of patients with serious ocular injuries. Our study evaluates associations between race and socioeconomic status in presentation and outcomes of pediatric and adolescent traumatic open globe injuries. Methods We conducted a retrospective chart review of traumatic open globe injuries in pediatric and adolescent patients presenting to Johns Hopkins Hospital and University of Maryland Medical Center between 2006 and 2020. Variables assessed included age, gender, parent-identified race, median household income, mechanism of injury, initial and final visual acuity (VA), and length of follow-up. Results Eighty patients ranging from 4 months to 17.7 years (mean 9.3 years) presented with traumatic open globe injury. Identifications were 28 White (35%), 38 Black (48%), and 5 Hispanic (6%). Initial presenting and final VA, pediatric ocular trauma score (POTS), and length of follow-up did not differ significantly among race, gender, or income. Black patients had higher rates of blunt trauma (odds ratio (OR) 3.81; 95% confidence interval (CI) 0.95-15.24, p = 0.07), uveal prolapse (OR 3.58; 95% CI 1.03-12.43; p = 0.049), and enucleation (OR 10.55; 95% CI 1.26-88.31). Hispanic patients presented at a younger age of 2.8 years mean age vs. 9.9 years (p = 0.004) for others. Conclusion Visual outcomes following traumatic open globe injury were independent of race, gender, or income. However, blunt trauma, uveal prolapse, and enucleation rates were higher in Black patients, and ocular trauma occurred at a younger age in Hispanic patients.


Assuntos
Ferimentos Oculares Penetrantes , Traumatismos Oculares , Traumatismo Múltiplo , Lesões do Pescoço , Ferimentos não Penetrantes , Criança , Humanos , Adolescente , Pré-Escolar , Estudos Retrospectivos , Baltimore/epidemiologia , Prognóstico , Traumatismos Oculares/epidemiologia , Traumatismos Oculares/cirurgia , Índices de Gravidade do Trauma
10.
J Acad Ophthalmol (2017) ; 15(2): e209-e214, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38736610

RESUMO

Objective This article characterizes perspectives of ophthalmologists involved in the residency selection process regarding the potential impact of preference signaling on the ophthalmology residency match. Methods An anonymous online questionnaire generated from SurveyMonkey was approved by the Association of University Professors of Ophthalmology (AUPO) Data Resource Committee for distribution to 391 individuals from the AUPO Departmental Chairs, Program Directors, and Directors of Medical Student Education email listservs in August 2022. Results A total of 96 (24.6%) ophthalmology faculty completed the questionnaire. The majority ( n = 76, 79.2%) agreed or strongly agreed that preference signaling should be implemented in the ophthalmology residency application system. Most respondents agreed or strongly agreed that preference signaling will allow for more holistic reviews of applications ( n = 55, 57.3%), agreed or strongly agreed that it will benefit applicants who do not have connections to home programs or faculty that can reach out to desired programs ( n = 81, 84.4%), and agreed or strongly agreed that it will improve the distribution of interviews to applicants ( n = 76, 79.2%). Participants agreed or strongly agreed that applicants who have signaled interest in their program will receive preference when offering interviews ( n = 59, 61.5%), and those signals will be used as a tiebreaker for similar applications ( n = 75, 78.1%). The majority of participants believed that the ideal number of preference signals' applicants should be given three to four signals ( n = 35, 36.0%) or five to six signals ( n = 29, 30.2%). Conclusion A majority of ophthalmology faculty surveyed support the integration of preference signaling into the ophthalmology residency match.

11.
J Acad Ophthalmol (2017) ; 15(1): e80-e85, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38737165

RESUMO

Objective The aim of this study is to describe a cost-effective and portable surgical training module for ophthalmology trainees and demonstrate its effectiveness in building confidence and reducing stress with conjunctival closure. Methods A total of 29 trainees (fourth year medical students, postgraduate year (PGY) 1 ophthalmology residents, PGY2 ophthalmology residents) participated in the module during July 2022. They completed a Pre-Module and Post-Module Questionnaire, with some questions assessing their confidence level and other questions assessing their stress level with conjunctival closure. A Likert scale of 1 to 10 was used to evaluate their level of confidence or stress (with 1 indicating low confidence or low stress and 10 indicating high confidence or high stress). Results Prior to completing the module, participants had an average conjunctival suturing skills confidence level score of 2.6 ± 1.6, which increased significantly to 5.6 ± 1.6 after completing the module ( p < 0.001). Participant's stress level score with performing conjunctival closure on live patients significantly decreased from 7.5 ± 2.4 to 5.6 ± 1.5 ( p < 0.001) after completion of the module. When participants were separated into two groups, participants in the PGY1 residents/medical students group had an average conjunctival suturing skills confidence level score of 2.7 ± 1.8, which rose significantly to 5.1 ± 1.5 after completing the module ( p = 0.008), whereas PGY2 residents had an average conjunctival suturing skills confidence level score of 2.6 ± 1.6, which rose significantly to 5.8 ± 1.7 after completing the module ( p < 0.001). Participant's stress level scores with performing conjunctival closure on live patients did not show significant results in the PGY1 residents/medical students group but significantly decreased from 7.2 ± 2.2 to 5.2 ± 1.3 ( p < 0.001) in PGY2 residents. Participants agreed that the video presented was effective for learning the surgical skill and that the module was engaging and prepared them well to learn more advanced conjunctival suturing techniques. Conclusion Our surgical training module is an effective teaching tool for ophthalmology trainees to increase confidence and decrease stress about performing conjunctiva closure. It provides an opportunity for trainees to repetitively practice key surgical techniques on an inexpensive and reusable training model.

12.
Rev. enferm. neurol ; 21(3): 226-234, sep.-dic. 2022.
Artigo em Espanhol | LILACS, BDENF - Enfermagem | ID: biblio-1428428

RESUMO

Introducción: El problema de la violencia no sólo afecta a quien la padece, pues tiene efectos colaterales en los hijos y otros familiares, lo cual deteriora su salud física, mental y emocional. Objetivo: Analizar la situación de desigualdad y la violencia de género en las mujeres. Metodología: El estudio se realizó bajo un enfoque cualitativo de tipo fenomenológico, aplicando la técnica de la entrevista a profundidad con previo consentimiento informado para su grabación, transcripción, análisis e interpretación. Resultados: Se identificaron formas de violencia física, sexual, psicológica, económica y patrimonial debido a las relaciones asimétricas dentro del hogar, producto del machismo y un sistema patriarcal que afectan la calidad de vida y el desarrollo social de las mujeres. Limitaciones: Las mujeres participantes eran vendedoras del mercado municipal y contaban con poco tiempo disponible para las entrevistas, pues el cierre de sus puestos de trabajo podía generar pérdidas económicas. Valor del estudio: La violencia y desigualdad de género son problemáticas en los países latinoamericanos que se deben abordar desde toda perspectiva para su identificación y prevención oportuna. Conclusiones: La situación de violencia y desigualdad de género ha tenido un impacto negativo no sólo en la vida de las mujeres entrevistadas, sino también de su núcleo familiar, sin embargo, cada una de ellas busca mejorar sus condiciones de vida a pesar de estas adversidades.


Introduction: Gender violence does not only affect the women who suffer it, since it causes collateral effects to children and other family members that deteriorates their physical, mental and emotional health. Objective: To analyze gender inequality and gender-based violence against women. Methodology: We carried out qualitative research of phenomenological type, applying in-depth interviews with previously informed consent for its recording, transcription, analysis and interpretation. Results: Physical, sexual, psychological, economic and patrimonial violence were identified in asymmetrical relationships as a result of sexism and the patriarchal system, which affects women's quality of life and social development. Limitations: Female participants were vendors from a local market and had limited time for the interviews, since the closing of their stands could cause economic losses. Value of the study: Gender-based violence and gender inequality constitute a problem in Latin American countries that should be thoroughly studied for its identification and timely prevention. Conclusions: Gender-based violence and gender inequality produces a negative impact not only on the lives of the women interviewed, but also on their families, however, every one of them tries to improve their life conditions and overcome adversities.


Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Mulheres Maltratadas , Delitos Sexuais , Violência de Gênero , Abuso Emocional , Equidade de Gênero
13.
J AAPOS ; 26(4): 218-220, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35690325

RESUMO

Conjunctival closure is an important step in strabismus surgery and a fundamental surgical skill that requires dexterity and understanding of general surgical principles. Traditionally, ophthalmology residents have improved their surgical technique in supervised wet labs. Social distancing guidelines during the COVID-19 pandemic may have limited the ability for direct supervised surgical teaching. We developed a safe, reusable, low-cost teaching module that allows residents to train independently to develop skills necessary for conjunctival closure. This module uses stepwise teaching and video instruction to improve resident confidence and preparedness in conjunctival suturing.


Assuntos
COVID-19 , Internato e Residência , Oftalmologia , Estrabismo , COVID-19/epidemiologia , Competência Clínica , Humanos , Oftalmologia/educação , Pandemias , Estrabismo/cirurgia
14.
J Acad Ophthalmol (2017) ; 14(1): e52-e59, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37388474

RESUMO

Objective This article describes a novel clinical rotation that uses technology to create a remote ophthalmology learning experience with the goal of improving virtual exposure to medical and surgical ophthalmic training for medical students. Methods Our unique curriculum incorporates mobile-mounted tablets which allow students to virtually participate in inpatient consults, clinic, and ophthalmic surgery. An adaptable mounting device attached to the slit lamp allows students to observe examinations in real time, enhancing recognition of ocular pathologies. Students participate in a robust curriculum that includes independent learning modules, video lectures, interactive modules, podcasts, and surgical video rounds. Students engage with residents and faculty in interactive-guided lectures and case-based discussions that focus on the American Academy of Ophthalmology white paper teaching objectives. Students are mailed surgical instruments and participate in surgical modules and faculty-led virtual wet laboratories. Results Our unique virtual curriculum combines didactic learning, interactive content, and novel technology applications such as mobile tablets, slit lamp-mounted devices, and faculty-led virtual wet laboratories. Conclusion Virtual technologies can be utilized to enhance ophthalmology medical student education in a safe and effective way during the coronavirus disease 2019 pandemic, and to improve educational access in the future.

15.
J Acad Ophthalmol (2017) ; 14(1): e1-e6, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37388481

RESUMO

Objective The aim of the study is to describe an inexpensive and easily-constructed model eye for the purpose of teaching laser peripheral iridotomy (LPI) and selective laser trabeculoplasty (SLT) to ophthalmology residents. Methods Easily constructed, inexpensive model eyes were utilized to teach residents SLT and LPI utilizing a remote self-study module. A teaching microscope attachment allowed for video-based instruction and feedback. Results This model eye, used in conjunction with video modules is an effective low-cost teaching tool for laser surgery among ophthalmology residents. Attending ophthalmologists rated the use of these model eyes using surveys and found them to be appropriate teaching tools that could lead to improved knowledge and translate to better patient care. Conclusion Our novel method for teaching glaucoma laser surgery allows residents to learn the principles and theory behind common laser procedures while having the opportunity to practice repetitive procedures on low-cost model eyes.

16.
Eye Contact Lens ; 48(1): 27-32, 2022 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-34608027

RESUMO

OBJECTIVE: To identify corneal structure differences on quantitative high-frequency ultrasound biomicroscopy (UBM) among subjects with congenital glaucoma compared with controls. METHODS: This prospective case-control study evaluated 180 UBM images from 44 eyes of 30 subjects (18 control and 12 glaucoma, mean age 5.2±8.0 years, range 0.2-25.8 years) enrolled in the Pediatric Anterior Segment Imaging and Innovation Study (PASIIS). ImageJ was used to quantify a comprehensive set of corneal structures according to 21 quantitative parameters. Statistical analysis compared corneal measurements in glaucoma subtypes and age-matched controls with significance testing and mixed effects models. RESULTS: Significant differences between congenital glaucoma cases and controls were identified in 16 of 21 measured parameters including angle-to-angle, central and peripheral corneal thicknesses, scleral integrated pixel density, anterior corneal radius of curvature, and posterior corneal radius of curvature. Eight parameters differed significantly between primary congenital glaucoma and glaucoma following congenital cataract surgery. CONCLUSION: Multiple measurable corneal structural differences exist between congenital glaucoma and control eyes, and between primary and secondary congenital glaucoma, including but not limited to corneal width and thickness. The structural differences can be quantified from UBM image analysis. Further studies are needed to determine whether corneal features associated with glaucoma can be used to diagnose or monitor progression of congenital glaucoma.


Assuntos
Glaucoma , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Córnea/diagnóstico por imagem , Glaucoma/diagnóstico , Humanos , Lactente , Microscopia Acústica , Esclera , Adulto Jovem
17.
Opt Express ; 29(15): 23439-23446, 2021 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-34614609

RESUMO

In this paper, we present a novel mechanism for the generation of laser pulses based on the phenomenon of thermocavitation. Thermocavitation bubbles were generated within a glass cuvette filled with copper nitrate dissolved in water, where the tip of an optical fiber was placed very close to the bubble generation region. Once the bubble is generated, it expands rapidly and the incoming laser light transmitted through the optical fiber is reflected at the vapor-solution interface and reflected back into the fiber, which is coupled to an erbium-doped fiber ring laser. Laser pulses were extracted from the ring cavity and detected by a fast photodetector, which corresponds to a single thermocavitation event, obtaining a pulse repetition rate from 118 Hz to 2 kHz at 1560 nm, with a pulse width ranging from 64 to 57 µs. The repetition rate can be controlled by adjusting the laser power to induce thermocavitation. To our knowledge, this novel mechanism of laser pulses has not been reported in the literature.

18.
J AAPOS ; 25(5): 312-314, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34582956

RESUMO

We report a case of spontaneous cataract absorption over a period of 19 weeks in a 5-week-old boy with trisomy 21. Ultrasound biomicroscopy images at 5 and 24 weeks of age showed that 71% of the initial lens thickness was absorbed during this period. At surgery, the lens thickness was 0.92 mm in the right eye and 0.91 mm in the left eye. Uncomplicated cataract extraction was performed. Trypan blue staining revealed an area of possible lens leakage through the anterior lens capsule in the left eye, suggesting a mechanism for cataract absorption.


Assuntos
Extração de Catarata , Catarata , Síndrome de Down , Cápsula do Cristalino , Corantes , Síndrome de Down/complicações , Humanos , Masculino , Azul Tripano
19.
J Glaucoma ; 30(5): e222-e226, 2021 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-33596011

RESUMO

The study was a prospective observational study comparing semiautomated to manual quantitative ultrasound biomicroscopy image analysis among 82 images from 41 eyes of 32 subjects (21 controls and 11 glaucoma) enrolled in the Pediatric Anterior Segment Imaging Innovation Study. Intraclass correlation coefficients and correlation coefficients were >0.8 for all parameters, and comparison of respective analysis speed was 7 times faster for the semiautomated method compared with manual image quantification.


Assuntos
Glaucoma , Microscopia Acústica , Segmento Anterior do Olho/diagnóstico por imagem , Criança , Glaucoma/diagnóstico por imagem , Humanos , Pressão Intraocular , Estudos Prospectivos
20.
Int J Mol Sci ; 23(1)2021 Dec 27.
Artigo em Inglês | MEDLINE | ID: mdl-35008666

RESUMO

Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical cataracts in the right and left eye, respectively. Exome sequencing revealed a novel homozygous variant (c.563A > G; p.(Asn188Ser)) in GJA3, which was predicted to be pathogenic by structural analysis. Dominantly inherited variants in GJA3 are known to cause numerous types of cataracts in various populations. Our study represents the second case of recessive GJA3 allele, and the first report in African Americans. These results validate GJA3 as a bona fide gene for recessively inherited CC in humans.


Assuntos
Catarata/congênito , Catarata/genética , Conexinas/química , Conexinas/genética , Mutação de Sentido Incorreto/genética , Sequência de Aminoácidos , Sequência de Bases , Criança , Feminino , Homozigoto , Humanos , Domínios Proteicos
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