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1.
J Glaucoma ; 2024 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-38747728

RESUMEN

PRECIS: Functional Near Infrared Spectroscopy was used to assess visual cortical activity in patients with primary open angle and primary angle closure glaucoma. There was decreased activity in the visual cortex of glaucoma patients correlating with the severity of glaucoma. PURPOSE: To evaluate visual cortex activity using fNIRS (Functional Near Infrared Spectroscopy) in primary open angle glaucoma (POAG) and primary angle closure glaucoma (PACG) compared to healthy controls. METHODS: A total of 30 POAG, 31 PACG, and 30 healthy aged-matched controls from a single centre were recruited in this cross-sectional observational pilot study with purposive sampling. The POAG and PACG groups were age-matched but were not matched for disease severity at recruitment. All participants underwent fNIRS testing using a multi-channel continuous-wave near infra-red system NIRSport 8×7 device (NIRx Medizintechnik GmbH, Berlin, Germany). The visual cortex activity was evaluated in terms of maximum amplitude of change in oxyhemoglobin (OxyHb) concentration over 10 seconds and a comparison was done between three groups. Both POAG and PACG groups were combined (termed as glaucoma group) to assess relationship of visual cortical activity with disease severity {by visual field defect (mean deviation) and retinal nerve fiber layer (RNFL) thickness}. RESULTS: All participants showed the characteristic response of increased OxyHb and decreased DeoxyHb during stimulus presentation. The maximum amplitude of change in OxyHb concentration over 10 seconds was significantly lower in both POAG and PACG groups compared to control in the right and left middle occipital gyri (P<0.05). There was no significant difference between PACG and POAG. Importantly, there was a negative correlation of the visual cortex activity with the visual field defects (mean deviation) (P<0.05) and a positive correlation with RNFL thickness in the glaucoma group (P<0.05). CONCLUSION: In glaucoma patients, reduction in visual cortical activity was observed which may be indicative of neuronal degeneration occurring in the occipital cortex. Disease severity in glaucoma appears to be closely correlated with visual cortex activity. fNIRS can serve as a useful neuroimaging modality for assessing the hemodynamic and neurodegenerative changes in glaucoma.

3.
Indian J Ophthalmol ; 2024 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-38317329

RESUMEN

PURPOSE: Topical glaucoma medication is the first line of management to reduce intraocular pressure (IOP) in patients with glaucoma. In this study, we intended to compare the ultrastructural findings of the cornea in patients with glaucoma before and after the reduction of the IOP through confocal microscopy. METHODS: Ten patients (19 eyes) with newly diagnosed glaucoma were recruited from the glaucoma services of our tertiary care center. Demographic parameters were noted, and basic ocular examination, specular microscopy (Topcon SP3000P, Tokyo, Japan), and ultrasonic pachymetry (300 AP, Sonomed Escalon, Stoneham, MA, USA) were performed. In vivo confocal microscopy of corneal sections was performed using the z-ring Confoscan 4.0 (Nidek, Inc., Freemont, CA) at baseline and after 3 months of starting glaucoma medications. RESULTS: The mean age of the patients was 53.53 ± 9.34 years. There was a statistically significant reduction (P < 0.0001) of IOP from 30.21 ± 7.42 mmHg (baseline) to 16.42 ± 4.14 mmHg (3 months). The mean central corneal thickness at baseline was 533.42 ± 3.96 µm, and it further decreased to 521.94 ± 42.45 µm at the end of 3 months (P = 0.006). No significant change was noted in the mean epithelial cell density, mean keratocyte density in anterior and posterior stroma, and the mean endothelial cell density and cell area (P >0.5). There was no significant percentage change in these parameters before and after the lowering of the IOP. CONCLUSION: A short-term (3 months) decrease in IOP using topical glaucoma medications caused a significant reduction in corneal thickness but did not have any significant ultrastructural changes in cornea measured using confocal microscopy.

4.
J Glaucoma ; 33(3): 149-154, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38194285

RESUMEN

PRCIS: Patients with primary open angle glaucoma were advised to follow the "365 breathing technique" for 6 weeks in addition to their pharmacological glaucoma treatment. It helped to reduce intraocular pressure (IOP), stress biomarker-cortisol, and improve autonomic dysfunction. OBJECTIVE: To study the effect of the "365 breathing technique" on IOP, autonomic functions, and stress biomarkers in patients with primary open angle glaucoma. METHODS: In this randomized, controlled, interventional trial, after randomization, 40 patients in the intervention group followed "365 breathing" (three times a day, breathing rate: 6 cycles/min for 5 min) in addition to their pharmacological glaucoma treatment and 40 patients in the control group continued only with their pharmacological glaucoma treatment. IOP, serum cortisol, heart rate variability (HRV), and heart rate response to deep breathing test (DBT) were recorded at preintervention and 6 weeks postintervention. RESULTS: The mean IOP, serum cortisol, parameters of the HRV test, and DBT were comparable between the two groups at baseline. At the 6-week follow-up, in the intervention group, mean IOP was significantly lower (16.09 ± 2.24 vs 18.38 ± 1.58 mm Hg, P = 0.03) and serum cortisol were significantly lower (13.20 ± 3.11 vs 14.95 ± 2.60 mcg/dL, P = 0.038) compared with the control group. In the HRV test, time domain analysis showed a significant difference in the root mean square of the successive difference between RR interval values between both groups at 6 weeks ( P = 0.015) pointing towards higher postintervention parasympathetic activation in the intervention group. In frequency domain analysis (HRV test), the ratio of the low-frequency component to the high-frequency component was significantly lower in the intervention group at 6 weeks (1.65 vs 1.79, P = 0.019) indicating a shift in sympathovagal balance towards greater vagal modulation.There was a significant increase in delta heart rate ( P = 0.019) and expiratory:inspiratory ratio ( P = 0.011) in the intervention group at 6 weeks when compared with baseline values, indicating improved parasympathetic reactivity to DBT. CONCLUSION: "365 breathing" technique can reduce IOP and serum cortisol, and improve autonomic dysfunction in patients with glaucoma.


Asunto(s)
Glaucoma de Ángulo Abierto , Glaucoma , Humanos , Presión Intraocular , Hidrocortisona , Tonometría Ocular
5.
J Glaucoma ; 33(2): 87-93, 2024 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-37974317

RESUMEN

PRCIS: This study evaluated the allostatic load (AL) in primary open angle glaucoma (POAG) patients and reported that the AL score was significantly higher in glaucoma patients compared with age-matched controls. PURPOSE: To evaluate the AL in patients with POAG. METHODS: This case-control study comprised 50 POAG (glaucoma patients) and 50 age-matched controls without glaucoma (controls). AL was estimated based on 13 variables: systolic blood pressure (BP), diastolic BP, homocysteine, triglycerides, total cholesterol, high-density lipoprotein, low-density lipoprotein, body mass index, serum cortisol, glycosylated hemoglobin, albumin, creatinine clearance, and C-reactive protein. High-risk thresholds were determined based on biological cutoffs of each biomarker. One point was assigned for each biomarker reading above cutoff and were summated to obtain AL score; score ≥4 was considered high. RESULTS: Mean age of glaucoma patients was 60.82±6.26 and 60.14±6.72 years in controls ( P =0.602). All components of AL score (except C-reactive protein) had higher values in glaucoma patients. There was a statistically significant difference in homocysteine ( P =0.001), total cholesterol ( P =0.037), high-density lipoprotein ( P =0.005), and glycosylated hemoglobin ( P =0.003). Mean AL score was 4.68±2.09 in glaucoma patients and 3.32±1.34 in controls ( P <0.001). There was significant association of high AL score with older age ( P =0.006), low socioeconomic status ( P =0.020), and glaucoma severity ( P =0.001). Negative correlation was seen between AL and retinal nerve fiber layer thickness (Right Eye: r =-0.37, P <0.001; Left Eye: r =-0.298, P <0.001) and visual field mean deviation (Right Eye: r =-0.469, P <0.001; Left Eye: r =-0.520, P <0.001). CONCLUSIONS: Glaucoma patients exhibited allostatic overload indicating physiological dysregulation to chronic stress although additional research is required to establish causality. A holistic approach with lifestyle modifications to reduce chronic stress should be an integral part of managing glaucoma patients as it would serve both to possibly reduce or prevent disease progression and improve overall health outcomes.


Asunto(s)
Alostasis , Glaucoma de Ángulo Abierto , Humanos , Persona de Mediana Edad , Anciano , Estudios de Casos y Controles , Proteína C-Reactiva , Hemoglobina Glucada , Presión Intraocular , Biomarcadores , Homocisteína , Lipoproteínas HDL , Colesterol
6.
Indian J Ophthalmol ; 72(3): 328-334, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38099353

RESUMEN

PURPOSE: To analyze primary congenital glaucoma (PCG) anterior chamber and angle anomalies over 360° as possible biomarkers of severity and prognosis. METHODS: A cross-sectional observational study was conducted analyzing anterior segment anomalies of PCG patients over 4 years of age who underwent trabeculectomy combined with trabeculotomy and age-matched controls using anterior segment optical coherence tomography (ASOCT), CASIA-2. Anterior iridotrabecular adhesions or anterior iris insertion was identified and quantified from the scleral spur using the iridotrabecular contact (ITC) index parameter as a surrogate. RESULTS: There was a variable but significantly increased anterior iridotrabecular adhesion on ITC index, ITC area, corneal volume, anterior chamber volume, iris volume, anterior chamber depth, and small/absent trabecular meshwork in PCG eyes compared to control eyes. In PCG eyes, anterior iridotrabecular adhesion had a positive correlation with pre-operative central corneal thickness (CCT) (r = 0.53, P = 0.02), review iris thickness (r = 0.4, P = 0.04), and ITC area (r = 0.85, P < 0.001). Review iris thickness had a negative correlation with pre-operative vertical cup-disc ratio (r = -0.51, P = 0.008). Iris hypoplasia with fewer or absent folds, collarette, pupillary ruff, and pupillary ruff to collarette distance was significantly different from controls. CONCLUSION: ASOCT in PCG eyes has shown that they have variable anterior iridotrabecular tissue adhesions, anomalous tissue/membranes in the angle, and iris hypoplasia correlating with pre-operative cup-disc ratio. These features could be used as gonioscopic and clinical biomarkers to assess the severity and prognosis of the disease. The presence of abnormal iris morphology and iridotrabecular tissue anomalies in PCG suggests that it is more than just isolated trabeculodysgenesis and is probably best considered as part of the anterior segment dysgenesis spectrum.


Asunto(s)
Anomalías del Ojo , Glaucoma de Ángulo Cerrado , Enfermedades del Iris , Humanos , Estudios Transversales , Presión Intraocular , Glaucoma de Ángulo Cerrado/cirugía , Iris/cirugía , Tomografía de Coherencia Óptica/métodos , Gonioscopía , Biomarcadores , Segmento Anterior del Ojo/diagnóstico por imagen
7.
Indian J Ophthalmol ; 72(3): 452-454, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38099380

RESUMEN

Corneal haze, due to edema or opacity, is a major contraindication for performing ab interno angle surgeries such as goniotomy in children with primary congenital glaucoma (PCG), despite otherwise favorable surgical outcomes expected in these patients. In this case series involving patients of PCG with moderate corneal haze, the authors describe a technique for performing goniotomy in cases with compromised visibility by using indocyanine green (ICG) to aid in the visualization of angle structures. The authors used 0.2% ICG intracamerally, which stained the anterior and posterior trabecular meshwork (TM) with different intensities, before proceeding with goniotomy. The junction between the two zones was discernible due to the contrast imparted by ICG staining, despite poor visibility, allowing the surgeon to incise the TM at the correct site. The possibility of performing goniotomy in such patients with the help of ICG can revolutionize our surgical approach to patients with PCG and corneal edema.


Asunto(s)
Opacidad de la Córnea , Glaucoma , Trabeculectomía , Niño , Humanos , Trabeculectomía/métodos , Glaucoma/cirugía , Glaucoma/etiología , Verde de Indocianina , Malla Trabecular/cirugía , Opacidad de la Córnea/cirugía , Córnea/cirugía , Presión Intraocular
8.
Indian J Ophthalmol ; 72(4): 538-543, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38099386

RESUMEN

PURPOSE: To study the correlation of corneal topography, corneal biomechanical properties, and ocular aberrations with the magnitude of refractive error in myopic eyes. METHODS: All myopic patients attending the clinic for refractive surgery were recruited. Data recorded included visual acuity, axial length (AL), central corneal thickness (CCT), manifest refraction spherical equivalent (MRSE), topography (Pentacam - Oculus), corneal biomechanical factors [ocular response analyzer (ORA)], and optical aberrations (iTrace). They were further categorized into group 1 (suitable for femto-LASIK) and group 2 (unsuitable for femto-LASIK). RESULTS: Sixty eyes (30 myopes) of mean age 22.78 ± 2.71 years were enrolled. A negative correlation of refractive error was noted with AL (ρ = -0.9; P < 0.001), total aberrations (ρ = 0.53; P < 0.001), and lower-order aberrations (LOA) (ρ = 0.54; P < 0.001). A strongly positive correlation was noted between CCT and corneal hysteresis (CH) (ρ = 0.63; P < 0.001), CCT and CRF (ρ = 0.56; P < 0.001), CH and corneal resistance factor (CRF) (ρ = 0.83; P < 0.001), and Goldmann equivalent intraocular pressure (IOPg) and corneal compensated intraocular pressure (IOPcc) (ρ = 0.78; P < 0.001). An increase in higher-order aberrations (HOAs) as well as lower-order aberrations (LOAs) was noted with increasing sim-K [HOA (r = 0.73, P = 0.001); LOA (r = 0.601, P = 0.014)] and increasing CRF [HOA (r = 0.5, P = 0.006); LOA (r = 0.732, P = 0.001)] in group 2. The amount of refractive error, axial length, central corneal thickness, and sim-K were significantly different in the two groups. CONCLUSION: Increasing degree of myopia is associated with an increase in axial length, total aberrations, and lower-order aberrations. Corneal biomechanical parameters have a strong correlation with each other. Lower corneal biomechanics are noted in high myopes as they have weaker and thinner corneas. Corneal biomechanics and ocular aberrations do not differ significantly between cases suitable for femto-LASIK and cases unsuitable for femto-LASIK.


Asunto(s)
Queratomileusis por Láser In Situ , Miopía , Errores de Refracción , Humanos , Adulto Joven , Adulto , Córnea , Miopía/diagnóstico , Miopía/cirugía , Presión Intraocular , Fenómenos Biomecánicos
9.
J AAPOS ; 27(6): 345.e1-345.e5, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37926388

RESUMEN

PURPOSE: To study the effect of four types of inferior oblique-weakening procedures on ocular torsion: inferior oblique recession (IOR), recession and antero-positioning (RAP), anterior transposition as practiced by Elliot and Nankin (EN), and anterior and nasal transposition (ANT). METHODS: The medical records of 72 consecutive patients >10 years of age undergoing inferior oblique weakening for primary or secondary inferior oblique overaction (IOOA) with or without horizontal rectus surgery were reviewed retrospectively. The 106 included eyes were assigned to one of the four groups according to the type of inferior oblique-weakening procedure. The severity of IOOA and the amount of V pattern guided the choice of procedure. IOOA, disk-fovea angle (DFA), and the amount of V pattern were recorded preoperatively. Measurements were repeated postoperatively at 1 week, 4 weeks, and 3 months. Change in the DFA was used to study the change in objective cyclotorsion in all four groups. RESULTS: A significant incyclotorsional shift was seen in all four groups at postoperative 3 months. The mean reduction in excyclotorsion 3 months postoperatively was 3.65° ± 4.84° for IOR, 5.31° ± 4.64° for RAP, 6.10° ± 3.89° for EN, and 16.62° ± 8.72° ANT; it was significantly higher in the ANT group compared with the other three groups. Reduction in DFA was also correlated with preoperative DFA overall, and for all procedures except IOR (P ≤ 0.005). CONCLUSIONS: All four inferior oblique-weakening procedures reduced excyclotorsion; the largest reductions in our study were seen in cases treated using ANT of the inferior oblique.


Asunto(s)
Trastornos de la Motilidad Ocular , Estrabismo , Humanos , Estrabismo/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Músculos Oculomotores/cirugía , Trastornos de la Motilidad Ocular/cirugía , Fóvea Central , Procedimientos Quirúrgicos Oftalmológicos/métodos , Visión Binocular
11.
Indian J Ophthalmol ; 71(6): 2436-2442, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37322656

RESUMEN

Purpose: To analyze the presence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in tears/conjunctival epithelium and assess the cytomorphological changes in the conjunctival epithelium of coronavirus disease 2019 (COVID-19) patients. Methods: In this pilot study, patients with moderate to severe COVID-19 were recruited from the COVID ward/intensive care unit of the institute. Tears and conjunctival swabs were collected from COVID-19 patients and sent to the virology laboratory for reverse transcription polymerase chain reaction (RT-PCR) testing. Conjunctival swabs were used to prepare smears, which underwent cytological evaluation and immunocytochemistry for SARS-CoV-2 nucleocapsid protein. Results: Forty-two patients were included. The mean age of participants was 48.61 (range: 5-75) years. Seven (16.6%) patients tested positive for SARS-CoV-2 ribonucleic acid in tears samples, four (9.5%) of which were positive on conjunctival swab by RT-PCR in the first test. Cytomorphological changes were observed significantly more in smears from patients with positive RT-PCR on tear samples, including bi-/multi-nucleation (p = 0.01), chromatin clearing (p = 0.02), and intra-nuclear inclusions (p < 0.001). One case (3.2%) showed immunopositivity for SARS-CoV-2; this patient had severe disease and the lowest Ct values for tear and conjunctival samples among all positive cases. Conclusion: Conjunctival smears from patients with COVID-19 revealed cytomorphological alterations, even in the absence of clinically significant ocular infection. However, viral proteins were demonstrated within epithelial cells only rarely, suggesting that although the conjunctival epithelium may serve as a portal for entry, viral replication is possibly rare or short-lived.


Asunto(s)
COVID-19 , Humanos , Preescolar , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , COVID-19/epidemiología , SARS-CoV-2 , Proyectos Piloto , Conjuntiva , ARN Viral/análisis
12.
Indian J Ophthalmol ; 71(5): 2084-2088, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-37203086

RESUMEN

Purpose: To describe a clinical entity called "rectus muscle pseudo-adherence syndrome" following buckling surgery. Methods: A retrospective data review was undertaken to analyze the clinical profile of strabismus patients who had developed it following buckling surgery. Between 2017 and 2021, a total of 14 patients were identified. The demography, surgical details, and intraoperative challenges were reviewed. Results: The average age of the 14 patients was 21.71 ± 5.23 years. The mean pre-op deviation was 42.35 ± 14.35 prism diopters (PD) of exotropia, and the mean post-op deviation was 8.25 ± 4.88 PD of residual exotropia at 26.16 ± 19.53 months follow-up. Intraoperatively, in the absence of a buckle, the thinned-out rectus adhered to the underlying sclera with much denser adhesions along its margins. When there was a buckle, the rectus muscle adhered to the outer surface of the buckle again, but less densely, with marginal union into the surrounding tenons. In both scenarios, due to the absence of protective muscle coverings, the rectus muscles were naturally adsorbed onto the immediately available surface in the presence of active healing by the tenons. Conclusion: While correcting ocular deviations following buckling surgery, a false sense of an absent, slipped, or thinned-out rectus muscle is very much possible. This is due to active healing of the muscle with the surrounding sclera or the buckle in a single layer of tenons. This is the rectus muscle pseudo-adherence syndrome, where the culprit is the healing process and not the muscle.


Asunto(s)
Exotropía , Humanos , Adolescente , Adulto Joven , Adulto , Exotropía/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Procedimientos Quirúrgicos Oftalmológicos , Músculos Oculomotores/cirugía , Esclerótica , Visión Binocular/fisiología , Estudios de Seguimiento
13.
J Pediatr Genet ; 12(2): 150-154, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37090837

RESUMEN

Juvenile open-angle glaucoma (JOAG) is an uncommon subset of primary glaucoma with an onset before the age of 40 years. In this case report, we describe the cosegregation of MYOC , p.Pro370Leu and LTBP2 , p.Pro432Leu mutations in a family with JOAG. The family with autosomal dominant JOAG belonged to Northern India. The samples of proband and her parents were evaluated by whole exome sequencing. Sanger sequencing was conducted in all the study participants to check the mutations identified. Both MYOC and LTBP2 mutations were found to cosegregate in affected individuals leading to a severe JOAG phenotype, thereby suggesting a digenic inheritance of MYOC with LTBP2 in this family.

14.
Oman J Ophthalmol ; 16(1): 120-122, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37007230

RESUMEN

Ocular decompression retinopathy (ODR) is caused by a sudden lowering of high intraocular pressure. Trabeculectomy is the most common procedure preceding ODR. Various mechanical and vascular etiologies have been proposed to cause ODR, with autoregulation and hemodynamics playing a contributing role. Herein, we report a rare case of ODR occurring after bleb needling in a young child using ultrawide-field fundus photography, fluorescein angiography, and optical coherence tomography.

15.
Curr Eye Res ; 48(7): 660-661, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36892194

RESUMEN

PURPOSE: Systemic absorbtion of topically applied mitomycin C (MMC) during trabeculectomy needs to be evaluated to look for any systemic toxicity, which might be a major concern in certain conditions like pregnancy. METHODS: After obtaining ethical committee clearance, female patients in the reproductive age group undergoing trabeculectomy with MMC were included. Pregnant/lactating patients, patients with any systemic illness were excluded. During trabeculectomy, 0.02% MMC was applied subconjunctivally for 2 min and then washed. Blood samples were withdrawn at 1, 2, 4, 8, 12, and 24 hrs after the surgery and analyzed of MMC levels using Liquid chromatography-tandem mass spectroscopy (LC-MS/MS). RESULTS: The mean age of the participants was 29 ± 12 years. MMC was not detected in any of the plasma samples analyzed as it was less than the detection limit (<1.56 ng/mL) of the employed LC-MS/MS assay. CONCLUSION: It can be deduced that the systemic absorption of MMC is negligible or the plasma concentration is less than 1.56 ng/ml (1000 times less than the concentration where systemic toxicity was not observed).


Asunto(s)
Cirugía Filtrante , Glaucoma , Trabeculectomía , Humanos , Femenino , Adolescente , Adulto Joven , Adulto , Mitomicina/análisis , Cromatografía Liquida , Lactancia , Espectrometría de Masas en Tándem , Glaucoma/cirugía , Presión Intraocular
16.
J Hum Genet ; 68(5): 355-358, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-36599958

RESUMEN

Mutations in the PAX6 gene are generally associated with aniridia. We describe a family with Juvenile onset open angle glaucoma (JOAG), where one of the two children had JOAG and the other Juvenile ocular hypertension. Whole exome sequencing was performed for the parents and their two affected children where the proband and her sibling were detected to have a de novo PAX6 gene variant in the absence of aniridia. All previously described gene mutations for glaucoma were looked for in the family. The potential pathogenicity of the identified variants was assessed by determining their frequency in large public exome databases; as well as using the current ACMG guidelines. The same heterozygous variant at NM_000280.6:c.1124 C > A; p. Pro375Gln in the PAX6 gene was detected in the proband and her affected brother. The variant has been described in aniridia patients before and has been shown to cause a weaker DNA binding using functional studies. This report expands the phenotypic spectrum of the PAX6 gene to include Juvenile onset open angle glaucoma.


Asunto(s)
Aniridia , Glaucoma de Ángulo Abierto , Glaucoma , Humanos , Masculino , Niño , Femenino , Glaucoma de Ángulo Abierto/genética , Factor de Transcripción PAX6/genética , Proteínas de Homeodominio/genética , Aniridia/genética , Mutación , Glaucoma/genética , Linaje , Proteínas del Ojo/genética
17.
Ophthalmic Genet ; 44(3): 281-285, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-35946471

RESUMEN

BACKGROUND: Juvenile onset open-angle glaucoma is described as a primary open-angle glaucoma, with an age of onset before 40 years. These patients have a higher prevalence of myopia. PURPOSE: We describe the phenotype of juvenile onset open-angle glaucoma in a patient with a rare variant in EFEMP1 gene, who was also detected to have Stickler syndrome(STL). METHODS: Whole exome sequencing (WES) was undertaken in 40 unrelated families where the proband had juvenile onset open-angle glaucoma (JOAG). RESULTS: Out of these, eight were autosomal dominant, while the rest did not have any other affected first-degree relative. Out of the 8 autosomal dominant JOAG families, MYOC mutations were detected in 3(37.5%) and LTBP2 in 1(12.5%). One family (12.5%) had a rare EFEMP1 sequence variant in both affected father and daughter. The daughter also had high myopia and a pathogenic COL11A1 sequence variant that led to a coincidental diagnosis of STL in her. CONCLUSIONS: This is a rare association of EFEMP1 and COL11A1 sequence variants in a JOAG patient with STL. The study also reiterates the association of JOAG with EFEMP1, which should be looked for, especially in families with autosomal dominant JOAG.


Asunto(s)
Glaucoma de Ángulo Abierto , Miopía , Femenino , Humanos , Glaucoma de Ángulo Abierto/diagnóstico , Glaucoma de Ángulo Abierto/genética , Glaucoma de Ángulo Abierto/epidemiología , Linaje , Mutación , Miopía/diagnóstico , Miopía/genética , Proteínas del Ojo/genética , Proteínas de Unión a TGF-beta Latente/genética , Proteínas de la Matriz Extracelular/genética , Colágeno Tipo XI/genética
19.
J Glaucoma ; 32(12): 1011-1017, 2023 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-38200659

RESUMEN

PRCIS: In primary angle closure glaucoma (PACG), micropulse cyclophotocoagulation resulted in a significant reduction in intraocular pressure (IOP), and the number of antiglaucoma medications without any sight-threatening complications. However, the IOP lowering efficacy decreased over time. PURPOSE: The purpose of this study was to evaluate the efficacy and safety of micropulse trans-scleral cyclophotocoagulation (MP-TSCPC) in PACG. PATIENTS AND METHODS: Thirty-three phakic PACG eyes with patent laser peripheral iridotomy and IOP uncontrolled on maximum tolerable antiglaucoma medications (AGMs), scheduled for trabeculectomy, were given a trial of MP-TSCPC (810 nm laser, 2000 mw power for 180 seconds, 360 degrees). The primary outcome measure was a success at 1 year with IOP ≤18 mm Hg and ≤15 mm Hg with (qualified success) or without (absolute success) AGMs after a single session of MP laser. Secondary outcome measures were changes in pupillary diameter, visual acuity, central macular thickness, and subjective pain perception. RESULTS: Thirty-two out of 33 PACG patients completed 12 months of follow-up. The mean age of patients was 54.7±8.9 years; male:female ratio was 1:1. The baseline IOP was 25.7±5.3 mm Hg, which reduced to 17.9±4.6 mm Hg at the end of 12 months (P<0.0001). Twenty eyes (62.5%) achieved qualified success, and 1 eye (3.125%) had absolute success at 12 months for IOP ≤18 mm Hg; 6 eyes (18.75%) had qualified success, and 1 eye (3.125%) had absolute success for IOP ≤15 mm Hg at 12 months follow-up. A significant reduction was also observed in the number of AGMs (4.4±0.8 at baseline to 2.9±1.1 at 12 months; P <0.0001). Five eyes (15.6%) received additional treatment-3 eyes (9.4%) requiring a subsequent filtering procedure, and 2 eyes (6.2%) requiring an additional MP-TSCPC session. No significant change in pupillary diameter (P=0.489) or central macular thickness (P=0.938) was noted at 12 months. There was a transient drop of visual acuity >2 lines in 1 patient due to cystoid macular edema, and no major postlaser complications were noted. CONCLUSIONS: MP-TSCPC can be used as an interim procedure to reduce IOP in PACG eyes and delay the need for invasive surgery. Most patients require continued use of glaucoma medications, and target IOPs achieved are in the high teens.


Asunto(s)
Glaucoma de Ángulo Cerrado , Terapia por Láser , Adolescente , Humanos , Femenino , Masculino , Persona de Mediana Edad , Agentes Antiglaucoma , Glaucoma de Ángulo Cerrado/diagnóstico , Glaucoma de Ángulo Cerrado/cirugía , Presión Intraocular , Ojo
20.
Indian J Ophthalmol ; 70(10): 3556-3561, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-36190046

RESUMEN

Purpose: To evaluate visual field changes in primary congenital glaucoma (PCG) with retinal nerve fiber layer thickness on optical coherence tomography. Methods: In this cross-sectional, observational study, consecutive PCG children who underwent combined trabeculotomy with trabeculectomy and on regular follow-up were enrolled. All patients were aged over four years and co-operative for RNFL OCT and visual field examination. Perimetry was done on Humphrey visual field (HVF) analyzer using 30-2 and 10-2 SITA standard algorithms as appropriate. If a reliable automated perimetry was not feasible, kinetic perimetry was done. The following were noted at baseline and every follow-up: age, sex, visual acuity, intraocular pressure (IOP), cup-disc ratio (CDR), corneal diameters, refraction, any topical antiglaucoma medications, surgeries underwent, age at surgery and duration between surgery and final examination. Results: Forty-eight eyes of 34 children operated for PCG and 19 eyes of 17 controls were analyzed. A statistically significant thinner average RNFL thickness of 87.2 ± 28 µm was noted in PCG eyes as compared to controls with 100.6 ± 7.2 µm (P = 0.04). The mean cup-disc area ratio on OCT in PCG eyes was 0.43 ± 0.2 (0.02-0.93) and in control eyes was 0.23 ± 0.07 (0.1-0.4) (P < 0.001). On RNFL OCT, there was significant focal RNFL loss in temporal superior (P = 0.003), nasal inferior (P = 0.037) and temporal inferior (P < 0.001) quadrants compared to controls. Among PCG eyes, 20/48 eyes (41.7%), had definitive, reproducible glaucomatous VF defects. Mean baseline IOP in PCG eyes with VF defect was 28.7 ± 5.7 mmHg and in eyes with normal VF was 24.6 ± 5.9 mmHg (P = 0.03). On univariate regression analysis, higher baseline IOP was significantly associated with both RNFL loss (odds ratio (OR): -2.17) and VF defects (OR: 3.35). Fluctuation in follow-up IOP (OR: 3.33) was also significantly associated with the presence of VF defects. On multivariable regression analysis maximum, IOP was significantly associated with RNFL loss and VF defects. Conclusion: Peripapillary RNFL thickness could be used to identify PCG eyes having visual field loss and possibly poor visual function from PCG eyes without visual field defects. Baseline and follow-up IOP, significantly correlated with RNFL thickness in PCG eyes.


Asunto(s)
Glaucoma , Trabeculectomía , Anciano , Niño , Estudios Transversales , Glaucoma/diagnóstico , Glaucoma/cirugía , Humanos , Presión Intraocular , Fibras Nerviosas , Células Ganglionares de la Retina , Tomografía de Coherencia Óptica/métodos , Trastornos de la Visión , Pruebas del Campo Visual/métodos , Campos Visuales
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