Comparison between ocular biometry parameters in patients with unilateral congenital glaucoma

Purpose: To compare the axial length (AL) and corneal diameter between glaucomatous eye (GE) and fellow normal eye (NE) in patients with unilateral congenital glaucoma and to obtain a normative database for ocular growth among Indian children below 3 years of age. Methods: Retrospective longitudinal study. Patients who had a follow?up of 3 years from diagnosis with ocular biometry parameters being recorded at least thrice (once a year) and fellow eye being normal were included. Data collected were age, gender, intraocular pressure (IOP), AL, corneal diameter, optic disc findings, diagnosis, and surgery details. Results: Eleven patients were analyzed. All GE underwent combined trabeculotomy with trabeculectomy. Mean (SD) baseline IOP, AL, and corneal diameter were 17.1 (6.7) mmHg, 18.9 (1.1) mm and 12 (0.91) mm in GE, and 11.1 (3.8) mmHg, 17.8 (0.44) mm, and 10.5 (0.58) mm in NE, respectively. Increase in AL was 3.1 mm in the first year followed by 0.6 mm in second year and 0.4 mm in third year in GE compared to 2.6, 0.6, and 0.5 mm in NE, respectively. Corneal diameter increased by 1.1 mm in GE in the first year and remained stable thereafter compared to 0.7 mm in first year followed by 0.3 mm in second year and stable thereafter in NE. The percentage of success was 73% at 3 years. Conclusion: Axial length and corneal diameter were higher in GE than NE at all?time points. With prompt intervention, the growth curve of the GE was made parallel to that of NE.

A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG

Purpose: This study focused on the genetic screening of Myocilin (MYOC), Cytochrome P450 family 1 subfamily B member 1 (CYP1B1), Optineurin (OPTN), and SIX homeobox 6 (SIX6) genes in a family with coexistence of primary congenital glaucoma (PCG) and juvenile open?angle glaucoma (JOAG). Methods: Sanger sequencing was used to examine the coding region of all four genes. Six different online available algorithms were used for the pathogenicity prediction of missense variant. Structural analysis was done using Garnier–Osguthorpe–Robson (GOR), PyMol, ChimeraX, and Molecular Dynamic (MD) Simulations (using Graphics Processing Unit (GPU)?enabled Desmond module of Schrödinger). Results: There were a total of three sequence variants within the family. All seven algorithms determined that a single mutation, G538E, in the OPTN gene is pathogenic. The loops connecting the strands became more flexible, as predicted structurally and functionally by pathogenic mutations. Mutations create perturbations and conformational rearrangements in proteins, hence impairing their functioning. Conclusion: In this study, we describe a North Indian family in which members were having JOAG and PCG due to a rare homozygous/ heterozygous mutation in OPTN. The coexistence of two types of glaucoma within a single pedigree suggests that certain OPTN mutations may be responsible for the onset of different glaucoma phenotypes.

Bibliometric analysis of pediatric glaucoma

Purpose: This study aimed to describe visual outcomes in cases of pediatric uveitis in an Indian population and to analyze various factors affecting these outcomes. Methods: Single?center, retrospective chart review of 277 cases of uveitis in patients under the age of 18 years. Variables assessed included age and sex distribution, anatomical location of uveitis, systemic associations, complications, and various treatment strategies used, including long?term immunomodulation and surgical management of complications if required. The main outcome was the final visual acuity. Results: At the final visit, 51.5% of the eyes showed improvement in the final visual acuity, while vision remained stable in 28.7% and 19.7% of the eyes showed worsening of vision at the final follow?up. A total of 19.4% of patients were blind in at least one eye at the final visit, and 16 patients (5.77%) remained bilaterally blind at the final follow?up. The presence of cataract (p = 0), posterior uveitis (p = 0.005), and retinal detachment (p = 0.014) were the most significant risk factors for predicting worse visual outcomes. More than half (65.7%) of patients reported a complication at some point in their follow?up, and the most common complication was cataract. In total, 50.9% of patients required long?term immunomodulatory therapy. Conclusion: Pediatric uveitis remains a challenging condition to treat and follow?up, and the visual outcome remains guarded for most patients. in infectious cataracts, particularly in CMV infections, compared to other cataract subtypes. Tgf? showed significantly low expression in various cataract subtypes, whereas vimentin had elevated gene expression in infectious and prenatal cataracts. Conclusion: A significant association between lens gene expression patterns in phenotypically and etiologically distinct subtypes of pediatric cataracts suggests regulatory mechanisms in cataractogenesis. The data reveal that cataract formation and presentation is a consequence of altered expression of a complex network of genes.

Evaluation of a Protocol for Diagnosis and Treatment of Primary Congenital Glaucoma in Tanta University Eye Hospital

Background: Primary congenital glaucoma is the most common type of glaucoma in infancy. It manifests within the first few years of life and is not associated with any other systemic or ocular abnormalities. This study aimed to evaluate a protocol for diagnosis and treatment of primary congenital glaucoma at Tanta University Eye Hospital.Methods: The study was prospective interventional on 60 eyes of 36 infants and children who presented between December 2018 to March 2021 at Tanta University Eye Hospital in Egypt. All patients were presented with primary congenital glaucoma and were managed according to specific diagnostic, therapeutic and follow up regimen. Pre- and Post-operative clinical data were recorded, and results were studied.Results: The mean of age±SD (range) at first presentation was 11.33±21.76 (0.5-120) months and of follow-up period was 7.85±2.71 (4-13) months. The mean of pre-operative IOP, corneal diameter, C/D ratio and AxL was 24.1±5.9 (12–41.5) mmHg, 12.97±0.69 (11–14.5) mm, 0.57±0.18 (0.2–0.9) and 21.87±1.28 (19.1–26.8) mm respectively, and post-operatively was 14.4±3.09 (8.5–20.5) mmHg, 12.71±0.89 (11–14.5) mm, 0.48±0.22 (0.2–1) and 22.16±1.53 (19–25.9) mm respectively. Surgical interventions included 1ry surgeries (trabeculotomy in 21 eyes and CTT with MMC in 39 eyes), 2ry surgeries (CTT with MMC in four eyes) and 3ry surgery (Ahmed valve implantation in one eye). Complete success was achieved in 38 eyes (63.3%) and qualified success in 22 eyes (36.7%).Conclusions: The current protocol applied at Tanta University Eye Hospital for diagnosis and treatment of primary congenital glaucoma proved efficacy and safety. Primary surgical intervention in the form of trabeculotomy (for mild cases) and combined trabeculotomy-trabeculectomy with MMC (for moderate to advanced cases) is a successful regimen for management of these eyes.

Evaluation of visual field changes with retinal nerve fiber layer thickness in primary congenital glaucoma

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 ?m was noted in PCG eyes as compared to controls with 100.6 ± 7.2 ?m (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

Posterior corneal morphological changes in primary congenital glaucoma

Purpose: To compare posterior corneal morphology between older treated and younger untreated children with primary congenital glaucoma (PCG) using anterior segment optical coherence tomography (ASOCT) and intraoperative OCT (iOCT), respectively. Methods: In this comparative study, ASOCT of older PCG children were compared with iOCT of younger untreated PCG patients. Differences between the two groups with respect to posterior corneal morphology were studied. Results: Observed morphological patterns within posterior cornea in older treated (age: 72–300 months) children (87 eyes) included Descemet’s membrane (DM) excrescences (70%), thickened DM (35%), intracameral twin protuberances (92%), and DM detachment (26%). Changes within pre?Descemet’s layer (PDL) (28%) included thickening, breaks, and detachments. Extent of Haab’s striae was associated with thickness of DM/PDL complex (P = 0.008) when analyzed in the treated group. In contrast, in the untreated group (n = 53 eyes, age 1–63 months), posterior corneal changes were limited to diffuse hyper?reflectivity of the DM/PDL complex, with absence of DM tears. Conclusion: Posterior cornea thickens and Haab’s striae become more circumscribed in eyes of older treated children compared to untreated PCG eyes, probably reflecting a healing response of posterior cornea over time.

Síndrome de Axenfeld-Rieger con glaucoma asociado / Axenfeld-Rieger syndrome associated with glaucoma

El síndrome de Axenfeld-Rieger es una enfermedad congénita que puede estar asociada a glaucoma en el 50 por ciento de los casos. Por esta razón se describen un caso clínico con síndrome de Axenfeld-Rieger y glaucoma bilateral. Se trata de un paciente masculino de 18 años con escleras azules, microcórnea, embriotoxon posterior, aniridia parcial, atrofia sectorial del iris y alteraciones sistémicas asociado a glaucoma, al que se decide realizar trabéculo-trabeculectomía en ambos ojos. Al mes de la cirugía se constata un aumento de las presiones intraoculares del ojo izquierdo y se realiza trabéculo-trabeculectomía con mitomicina C, posteriormente se hace necesario implantar válvula de Ahmed con mitomicina C en dicho ojo e implantar dispositivo de molteno en ojo derecho, el cual necesitó revisión con aguja y administración de mitomicina C para mantener presiones intraoculares dentro de límites normales con tratamiento médico asociado en ojo izquierdo(AU)

Axenfeld-Rieger syndrome is a congenital disease that can be associated with glaucoma in 50 percent of cases. For this reason, a clinical case with Axenfeld-Rieger syndrome and bilateral glaucoma is described. This is an 18-year-old male patient with blue sclera, microcornea, posterior embryotoxon, partial aniridia, sectorial atrophy of the iris, and systemic alterations associated with glaucoma, who decided to perform trabeculo-trabeculectomy in both eyes. One month after surgery, an increase in intraocular pressures in the left eye was observed and a trabeculo-trabeculectomy was performed with mitomycin C, subsequently it was necessary to implant Ahmed's valve with mitomycin C in said eye and implant a molteno device in the right eye, the which required revision with a needle and administration of mitomycin C to maintain intraocular pressures within normal limits with associated medical treatment in the left eye(AU)

Validating the use of U-tool as a novel method for measuring the corneal diameter in infants screened for congenital glaucoma

Purpose: The Castroviejo caliper is routinely used for measuring the corneal diameter in patients with primary congenital glaucoma, but needs an examination under anesthesia (EUA) or sedation. A simple U?shaped tool was devised to aid in the estimation of the corneal diameters of patients in settings where an ophthalmic caliper is not available or EUA is not feasible. Methods: Infants presenting to the congenital glaucoma clinic posted for EUA were recruited. The demographic details of the patients such as age, sex, and diagnosis were noted. A simple U?shaped tool was devised using three Schirmer strips or a printable ruler. Before the patient underwent a EUA, the corneal diameters were measured using the U?tool. During EUA, corneal diameters were measured using the Castroviejo caliper. Results: The mean age of infants was 6.7 ± 3.39 months (R = 1–12). The mean corneal diameter measured using the U?tool was 13.29 ± 1.33 mm and with Castroviejo caliper was 13.18 ± 1.39 mm. The difference between the corneal diameters measured using the two techniques was ?0.114 mm with the Bland–Altman plot 95% Limits of agreement (LoA) from ?0.965 to 0.737 mm. Corneal diameters measured with both instruments had a good correlation (Pearson’s correlation coefficient = 0.95, P < 0.001). Conclusion: U?tool can be used for screening congenital glaucoma by first?contact physicians or optometrists. It can also be used by ophthalmologists when EUA is delayed

Short-term results of ab-interno trabeculotomy using Kahook Dual Blade in patients with primary congenital glaucoma / Resultados de curto prazo da trabeculotomia ab-interno usando o Kahook Dual Blade em pacientes com glaucoma congênito primário

ABSTRACT The aim of this study is to present the results of ab-interno trabeculotomy using Kahook Dual Blade in patients with primary congenital glaucoma. An ab-interno trabeculotomy using a dual blade device was performed in three eyes of two patients with the diagnosis of primary congenital glaucoma. One of them in the left eye and the other patient in both eyes. In the first patient, an adequate response was achieved after the intraocular pressure reduced from 36 mmHg to 14 mmHg. The second patient did not respond adequately to the procedure, and high intraocular pressure levels persisted in both eyes after the procedure. The indication of Kahook Dual Blade ab-interno trabeculotomy in primary congenital glaucoma must be cautious and more studies are needed to establish its efficacy and the best indications. Seems that this procedure should not be indicated for primary congenital glaucoma treatment.

RESUMO O objetivo deste estudo é apresentar os resultados da trabeculotomia ab-interno com Kahook Dual Blade em pacientes com glaucoma congênito primário. Foi realizada trabeculotomia ab-interno com dispositivo de lâmina dupla em 3 olhos de 2 pacientes com diagnóstico de glaucoma congênito primário. Um deles no olho esquerdo e o outro paciente nos dois olhos. No primeiro paciente, houve resposta adequada uma vez que a pressão intraocular diminuiu de 36 mmHg para 14mmHg. O segundo paciente não respondeu adequadamente ao procedimento, mantendo altos níveis de pressão intraocular em ambos os olhos após o procedimento. A indicação da trabeculotomia ab-interno com o Kahook Dual Blade no glaucoma congênito primário deve ser cautelosa e são necessários mais estudos para estabelecer a eficácia e as melhores indicações. Parece que esse procedimento não deve ser indicado no tratamento do glaucoma congênito primário.

Outcome evaluation of non-penetrating trabecular surgery combined with suture trabeculotomy for the treatment of primary congenital glaucoma / 中华实验眼科杂志

Objective:To investigate the efficacy and safety of non-penetrating trabecular surgery combined with nearly 360-degree suture trabeculotomy for the treatment of primary congenital glaucoma (PCG).Methods:An observational case series study was conducted.A total of 29 cases (50 eyes) with PCG, including 21 males (35 eyes) and 8 females (15 eyes), were enrolled in Jiangsu Province Hospital and Nanjing Children's Hospital from January to November, 2019.The age of subjects ranged from 1 month to 4 years, and the median age was 6 months.Non-penetrating trabecular surgery was first performed in order to open the Schlemm canal.The cannulation and nearly 360-degree suture trabeculotomy were then performed with the twisted 6-0 polypropylene suture.Intraocular pressure (IOP), corneal diameter, cup-to-disc ratio (c/d) and complications were recorded preoperatively and 1 week, 1 month, 3 months, 6 months, 9 months, 12 months, and 24 months postoperatively, and the proportion of sutures successfully passed through the Schlemm canal and the success rate of operation were recorded.This study followed the Declaration of Helsinki.The study protocol was approved by an Ethics Committee of The First Affiliated Hospital of Nanjing Medical University (No.2019-SR-198). Written informed consent was obtained from the guardian of each subject prior to entering the study cohort.Results:Circumferential cannulation by suture was successfully performed in 90% of the subjects.The Harms trabeculotomy probe was applied in failed cases.Mean IOP was significantly lowered from preoperative (35.0±9.5) mmHg (1 mmHg=0.133 kPa) to (9.9±4.4), (10.0±4.2), (9.7±4.4), (9.0±2.9), (9.4±4.2), (9.3±3.3) and (9.5±3.8) mmHg at postoperative 1 week, 1 month, 3 months, 6 months, 9 months, 12 months and 24 months, respectively ( F=141.56, P<0.01). Mean corneal diameter was significantly reduced from preoperative (13.7±1.4) mm to (13.3±1.4), (12.9±1.4), (12.8±1.3), (12.7±1.2), (12.6±1.1), (12.6±1.1) and (12.8±0.4) mm at postoperative 1 week, 1 month, 3 months, 6 months, 9 months, 12 months and 24 months, respectively ( F=4.55, P<0.01). Mean c/d was significantly reduced from preoperative 0.81±0.15 to 0.55±0.22, 0.48±0.23, 0.45±0.22, 0.43±0.21, 0.41±0.20, 0.40±0.21 and 0.31±0.19 at postoperative 1 week, 1 month, 3 months, 6 months, 9 months, 12 months and 24 months, respectively ( F=21.07, P<0.01). Forty-two eyes (93.3%) achieved complete success and 45 eyes (100%) achieved qualified success at postoperative 12 months.No severe complications were observed during or after surgery. Conclusions:Non-penetrating trabecular surgery combined with nearly 360-degree suture trabeculotomy can effectively treat patients with PCG without any severe complications.

Trabéculo-trabeculectomía como tratamiento quirúrgico inicial del glaucoma congénito primario / Trabeculotomy-trabeculectomy as initial surgical treatment for primary congenital glaucoma

El glaucoma congénito primario constituye la forma más común de glaucoma infantil, el cual exige un diagnóstico precoz y un tratamiento quirúrgico relativamente urgente, ya que puede ocasionar graves secuelas morfológicas y funcionales. Se presenta la realización, por primera ocasión, de la trabéculo-trabeculectomía combinada en la República Democrática y Popular de Argelia. Se ejecutó en un paciente árabe, de un año de edad, a quien se le diagnosticó el glaucoma congénito primario II. Se evaluó el seguimiento posoperatorio con resultados satisfactorios, por lo que se consideró la trabéculo-trabeculectomía como el proceder quirúrgico efectivo y suficientemente seguro, el cual debe ser realizado por un personal calificado para poder admitirse como primera opción en el tratamiento quirúrgico del glaucoma congénito primario(AU)

Primary congenital glaucoma is the most common form of childhood glaucoma. This condition requires early diagnosis and relatively urgent surgical treatment, since it may leave serious morphological and functional sequelae. A description is provided of the first combined trabeculotomy-trabeculectomy performed in the People's Democratic Republic of Algeria. The operation was performed on a male one-year-old Arab patient diagnosed with primary congenital glaucoma II. Post-operative follow-up found satisfactory results, and trabeculotomy-trabeculectomy was thus considered to be an effective, sufficiently safe surgical procedure, which should be performed by qualified personnel to be accepted as the first surgical treatment option for primary congenital glaucoma(AU)

Baerveldt implant versus trabeculectomy as the first filtering surgery for uncontrolled primary congenital glaucoma: a randomized clinical trial / Implante de Baerveldt versus trabeculectomia como primeira cirurgia fistulizante no glaucoma congênito primário não controlado: ensaio clínico randomizado

ABSTRACT Purpose: Our initial goal was to compare the efficacy and safety of a glaucoma drainage device and trabeculectomy for children with primary congenital glaucoma after angular surgery failure. However, we discontinued the study due to the rate of complications and wrote this report to describe the results obtained with the two techniques in this particular group. Methods: This was a parallel, non-masked, controlled trial that included patients aged 0-13 years who had undergone previous trabeculotomy or goniotomy and presented inadequately controlled glaucoma with an intraocular pressure ≥21 mmHg on maximum tolerated medical therapy. We randomized the patients to undergo either placement of a 250-mm2 Baerveldt glaucoma implant or mitomycin-augmented trabeculectomy. The main outcome measure was intraocular pressure control. We calculated complete success (without hypotensive ocular medication) and qualified success (with medication) rates. We defined failure as uncontrolled intraocular pressure, presence of serious complications, abnormal increase in ocular dimensions, or confirmed visual acuity decrease. Results: We studied 13 eyes of 13 children (five in the glaucoma drainage device group; eight in the trabeculectomy group). Both surgical procedures produced a significant intraocular pressure reduction 12 months after intervention from the baseline (tube group, 22.8 ± 5.9 mmHg to 12.20 ± 4.14 mmHg, p=0.0113; trabeculectomy group, 23.7 ± 7.3 mmHg to 15.6 ± 5.9 mmHg, p=0.0297). None of the patients in the tube group and 37.5% of those in the trabeculectomy group achieved complete success in intraocular pressure control after 12 months of follow-up (p=0.928, Chi-square test). Two patients (40%) had serious complications at the time of tube aperture (implant extrusion, retinal detachment). Conclusions: Both the tube and trabeculectomy groups presented similar intraocular pressure controls, but complete success was more frequent in the trabeculectomy group. Non-valved glaucoma drainage devices caused potentially blinding complications during tube opening. Because of the small sample size, we could not draw conclusions as to the safety data of the studied technique.

RESUMO Objetivo: O objetivo inicial era comparar a eficácia e a segurança do implante de drenagem e a trabeculectomia em crianças com glaucoma congênito primário após falência de cirurgia angular. Como o estudo foi descontinuado devido à taxa de complicações, o objetivo deste artigo foi descrever os resultados das duas técnicas neste grupo específico. Métodos: Ensaio clínico randomizado, não mascarado, incluindo pacientes com idade de 0 a 13 anos previamente submetidos à goniotomia ou trabeculotomia. Os pacientes, que apresentavam glaucoma não controlado com pressão intraocular ≥21 mmHg em terapia medicamentosa máxima, foram randomizados para o implante de drenagem de Baerveldt 250 mm2 (Grupo Tubo) ou trabeculectomia com mitomicina (grupo TREC). O principal desfecho avaliado foi o controle da pressão intraocular. Sucesso completo (sem medicação ocular hipotensora) e sucesso qualificado (com medicação) foram descritos. A falência foi baseada na pressão intraocular não controlada, presença de complicações sérias, aumento anormal das dimensões oculares e diminuição confirmada da acuidade visual. Resultados: Treze olhos de 13 crianças foram estudados (cinco no grupo Tubo e oito no grupo TREC). Ambos os procedimentos reduziram a pressão intraocular em relação às medidas iniciais após 12 meses da intervenção (grupo Tubo 22.8 ± 5.9 mmHg para 12.20 ± 4.14 mmHg, p=0.0113; grupo TREC, 23.7 ± 7.3 mmHg para 15.6 ± 5.9 mmHg, p=0.0297). Nenhum paciente no grupo Tubo e 37.5% do grupo TREC alcançaram o sucesso completo após 12 meses de acompanhamento (p=0.928, teste qui-quadrado). Dois pacientes (40%) apresentaram sérias complicações no momento da abertura do tubo (extrusão do implante e descolamento de retina). Conclusão: Os dois grupos estudados apresentaram resultados semelhantes quanto ao controle da pressão intraocular, mas o sucesso completo foi mais frequente no grupo da trabeculectomia. Implantes de drenagem não valvulados podem cursar com potenciais complicações visuais no momento da abertura do tubo. Devido ao pequeno tamanho da amostra, não foi possível determinar quaisquer dados de segurança conclusivos em relação à técnica estudada.

Facomatosis tipo Cesioflammea: Reporte de caso de neonato con Manchas Mongólicas y Vino oporto. Una presentación simple de una condición dermatológica compleja.

La facomatosis pigmentovascular es un conjunto de signos y síntomas caracterizado por la coexistencia de malformaciones vasculares capilares con una lesión pigmentaria cutánea congénita (nevo epidérmico, nevo spilus o melanosis dérmica) asociada o no, a manifestaciones sistémicas. Existen varios grupos de facomatosis pigmentovasculares según el tipo de nevo asociado a la lesión capilar vascular. Puede existir solo la afectación cutánea o tener manifestaciones sistémicas, entre ellas, traumatológicas, neurológicas, oftalmológicas, inmunológicas, renales, vasculares, linfáticas, entre otras. Exponemos el caso de un neonato masculino, quien presenta manchas vino oporto facial bilateral, cuello y tórax anterior y posterior, junto a melanocitosis dérmicas en espalda y ambos miembros inferiores, asociado a glaucoma congénito del ojo derecho. Debido a las manifestaciones clínicas cutáneas y sistémicas, se diagnostica facomatosis pigmentovascular, realizándose evaluación multidisciplinaria por radiología, dermatología, oftalmología, genética y neurología, para descartar afectación extracutánea. Los estudios complementarios son de vital importancia para detectar alteraciones extracutáneas, como se presentaron en el paciente.

Phakomatosis pigmentovascularis is set of signs and symptoms characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis) associated or not to systemic malformations. There are different types of phakomatosis pigmentovascularis according to the pigmentary nevus associated with the vascular malformation. There may be only the cutaneous condition or have systemic manifestations such as, trauma, neurological, ophthalmological, inmunological, renal, vascular, lymphatic, among others disorders. We present the case of a male newborn who had a port wine stain located bilaterally on the face, anterior and posterior thorax and neck, together with dermal melanocitosis in the back and lower extremities, associated with congenital glaucoma of the right eye. Due the clinical manifestations, the diagnosis of phakomatosis pigmentovascularis was made and multidisciplinary evaluation is requested by radiology, dermatology, ophthalmology, genetics and neurology to rule out extracutaneous involvement. Complementary studies are essential to detect extracutaneous alterations as presented in the patient.

Glaucoma congénito primario: ¿cuándo es preciso sospechar? / Primary congenital glaucoma: when should it be suspected?

RESUMEN Se realiza una actualización sobre el diagnóstico y tratamiento del glaucoma infantil primario, considerando la importancia que tiene un diagnóstico precoz y un tratamiento oportuno para obtener los mejores resultados posibles. Actualmente, a pesar del surgimiento de nuevos fármacos y de técnicas quirúrgicas para tratar esta afección, aún existen discrepancias sobre cómo debemos realizar el diagnóstico positivo; qué tratamiento o técnica quirúrgica emplear; cuándo y cuál sería la mejor. Cuando se trata de glaucoma pediátrico (primario o secundario), presente en etapas tan tempranas de la vida -incluso al nacimiento, donde la cirugía está indicada lo más precozmente posible, con la disyuntiva de cuáles medicamentos podemos emplear o no, por desconocimiento de qué efectos indeseables pudieran presentarse en estas edades y además, teniendo en cuenta que estos niños serán nuestros pacientes para toda la vida- es necesario conocer y repasar una vez más este tema. Se recomienda instruir a pediatras y oftalmólogos generales para lograr la remisión adecuada y precoz del niño a un centro especializado para su tratamiento quirúrgico, y mejorar así su pronóstico visual(AU)

ABSTRACT Updated information is provided about the diagnosis and treatment of primary childhood glaucoma, given the importance of early diagnosis and timely treatment to obtain the best possible results. Despite the emergence of new drugs and surgical techniques to treat this disorder, there is still controversy about how we should perform the positive diagnosis, what treatment or surgical technique should be used and when, and which would be the best. When childhood glaucoma (whether primary or secondary) presents at early stages of life - even at birth -, in which case surgery should be indicated as soon as possible, we are faced with the dilemma of what drugs we may or may not use, due to lack of knowledge about undesirable effects which could appear at these ages, and bearing in mind that these children will be our patients for a lifetime. It is thus necessary to be informed about this topic and go over it once again. It is recommended to instruct pediatricians and ophthalmologists to ensure timely, appropriate referral of the child patient to a specialized center where they will receive surgical treatment, thus improving their visual prognosis(AU)

Profile of childhood glaucoma at a tertiary center in South India

Purpose: To describe the prevalence of various types of childhood glaucomas, their clinical features and treatment methods. Methods: We prospectively included consecutive children with glaucoma presenting to glaucoma clinic for the first time between March 2013 and May 2014. We classified childhood glaucomas as per the classification proposed by Congenital Glaucoma Research Network. Results: Of the 275 children (449 eyes) with glaucoma during this period, primary glaucomas constituted 56% (n = 252 eyes of 145 children), including 169 eyes (37.64%) of 97 children with primary congenital glaucoma (PCG), 16 eyes (3.56%) of 10 children with infantile glaucoma, and 67 eyes (14.9%) of 38 children with juvenile open angle glaucoma. Among these, 85% (214 eyes of 107 children) had bilateral involvement. Secondary glaucomas constituted 44%; they were glaucoma associated with ocular anomalies 18% (n = 80 eyes), glaucoma associated with acquired conditions (steroid induced and traumatic glaucoma) 14% (n = 61 eyes), glaucoma following congenital cataract surgery 7.6% (n = 34 eyes), and glaucoma associated with systemic or syndromic conditions 5% (n = 22 eyes). In primary glaucomas, boys and girls were equally affected (1:1), and more boys (3.8:1) had acquired glaucomas. Close to 80% PCG eyes were managed surgically with combined trabeculotomy and trabeculectomy (CTT). Majority of secondary glaucomas were managed medically. Conclusion: In our cohort, PCG was the most common childhood glaucoma and CTT was the most common surgery performed in these eyes. Steroid-induced and traumatic glaucomas were the most common acquired glaucomas; appropriate measures should be taken to avert these preventable glaucomas in children.

A Case of Congenital Glaucoma in Associated with Nail-patella Syndrome

PURPOSE: To report a case of congenital glaucoma associated with nail-patella syndrome. CASE SUMMARY: A 20-day-old female was referred to our clinic for bilateral intraocular pressure (IOP) elevation and treatment of corneal opacities. Her IOP was 25 mmHg and 30 mmHg in the right and left eyes, respectively. After a diagnosis of congenital glaucoma, bilateral trabeculotomy was performed under general anesthesia. On the first postoperative day, the IOP was 12 mmHg in the right eye and 10 mmHg in the left eye, and remained stable thereafter. The infant was the second of fraternal twins (birth weight of 2.42 kg) and had no family history of any particular disease. During the regular checkup, she was referred to an orthopedic clinic for disorders of the elbow and knee. She presented with a dystrophic thumbnail, patella hypoplasia, elbow hypoplasia, and bilateral triangular protrusions of the lateral iliac crest (iliac horn). Based on the above findings, typical nail-patella syndrome was diagnosed and a mutation in the LMX1B gene was detected. CONCLUSIONS: If glaucoma patients have nail deformities or musculoskeletal abnormalities, nail-patella syndrome should be suspected and a multidisciplinary approach should be conducted.

Expression differences and clinical significance of miR-29b,miR-24 and miR-200c in plasma of infants with PCG and normal / 眼科新进展

Objective To identify the expression differences of mircoRNA-29 b (miR-29b),microRNA? 24 (miR-24) and microRNA-200 c (miR-200c) in plasma of infants with primary congenital glaucoma (PCG) and normal,and analyze its clinical significance.Methods The expression quantity of microRNAs (miR-29b,miR-24,miR-200c) in plasma of PCG group (16 cases) and normal control group (49 cases) were detected by RT-PCR,and the relationship between their expression differences and severity of disease were analyzed.The diagnostic value of miRNAs for PCG was evaluated by receiver-operating characteristic curve (ROC).Results The expression quantity of miR-29b,miR-24,miR-200c in PCG group (0.31 ±0.19,0.17 ±0.16,0.55 ±0.18,respectively) were significantly lower than those in normal control group (1.18-±0.52,2.86 ±2.65,1.62 ± 0.76,respectively) (all P ＜ 0.05);The expression quantity of miR-24 and miR-29b in plasma was related to the severity of PCG,the more severe the disease,the lower the expression;ROC curve indicated that miR-24 and miR-29b had a higher diagnostic value for PCG disease than miR-200c.Conclusion Free miRNAs in plasma may be used as a new plasma markers for auxiliary diagnosis of PCG.

A case of spontaneously resolved primary congenital glaucoma.

Primary congenital glaucoma usually presents as enlarged and hazy cornea at birth or early childhood. The diagnosis is based on a thorough clinical examination under anesthesia. Most cases require surgical intervention as the definitive treatment. In very rare instances, primary congenital glaucoma may arrest and resolve spontaneously. We describe a case of spontaneously arrested and resolved primary congenital glaucoma in a 37‑year‑old male presenting with large cornea, Haab’s striae, and normal intraocular pressure in one eye. Such a case has not been previously described from the Indian subcontinent.

El uso de válvulas de Ahmed en el tratamiento del glaucoma refractario en niños / Use of Ahmed valves in the treatment of refractory glaucoma in children

Objetivo: evaluar la efectividad del implante de la válvula de Ahmed (VA) en niños desde los 2 años de vida hasta los 16 años de edad, que presentaron glaucoma refractario al tratamiento quirúrgico convencional, atendidos en el Hospital Garrahan durante el periodo comprendido entre el 1 de enero de 2006 hasta el 30 de Junio de 2014. Resultados: Se incluyeron 16 ojos de 13 pacientes con un total de 17 VA colocadas. La presión intraocular (PIO) promedio de las tres últimas tomas antes de la colocación de la VA fue de 25,38 mm Hg con un rango de 19,33 mm Hg a 39,33 mm Hg. Todos estos pacientes se encontraban con tratamiento farmacológico tópico y nueve pacientes (69,2%) estaban medicados con acetazolamida vía oral. Trece ojos de 16 incluidos en este trabajo (81,25%) recibieron más de una cirugía filtrante previa. Los 3 ojos (18,75%) no operados previamente eran glaucomas secundarios a uveítis; se decidió colocar el dispositivo de drenaje de primera elección. Un solo ojo (6,25%) incluido en la presente serie requirió la colocación de una segunda VA. La PIO promedio al año de cirugía de la válvula fue de 13,36 mm Hg. y en los pacientes a los que se logró seguir por cinco años la PIO se mantuvo por debajo de 20 mm Hg. Ninguno de los pacientes a los que se les colocó válvula necesitó inhibidores de la anhidrasa carbónica por vía oral. Un 64,72% de los ojos a los que se les colocó VA no necesitó medicación para regular la PIO. Del 35,28% de los 17 ojos posquirúrgicos que debieron usar medicación tópica encontramos que un ojo (5,88%) requirió una droga, cuatro ojos (23,52%) demandaron el uso de dos drogas y un solo ojo (5,88%) necesitó tres drogas tópicas para mantener su PIO menor a 20 mm Hg. Las complicaciones posquirúrgicas tardías de la colocación de VA fueron en cuatro casos (23,5%) quistes conjuntivales perivalvulares, en uno (5,88%) hubo exposición del tubo que requirió su reposicionamiento, un caso (5,88%) presentó alteraciones de la motilidad ocular y otro (5,88%) desprendimiento de retina. Conclusión: La colocación de la VA es efectiva para el tratamiento del glaucoma infantil refractario porque se consiguió una disminución del 100% de la presión intraocular, con y sin medicación coadyuvante en los diversos controles de nuestro grupo de pacientes estudiados. El 64,7% de los pacientes no necesitó medicación tópica posterior a la cirugía y ninguno de ellos necesitó tratamiento con medicación sistémica para regular la PIO (AU)

Objective: To assess the effectiveness of Ahmed valve (AV) implantation in children between 2 and 16 years of age with glaucoma refractory to conventional surgical treatment seen at the Garrahan Hospital from January 1, 2006 to June 30, 2014. Results: 16 eyes of 13 patients were included of a total of 17 AV implanted. Mean intraocular pressure (IOP) of the last three taken before AV placement was 25.38 mm Hg with a range of 19.33 mm Hg to 39.33 mm Hg. All the patients were receiving topical drug treatment and nine (69.2%) received oral acetazolamide. Thirteen of 16 eyes included in the study (81.25%) underwent more than one previous filtration surgery. The three eyes (18.75%) that did not undergo surgery had glaucoma secondary to uveitis; a first-choice drainage device was placed. Only one eye (6.25%) included in this series required placement of a second AV. Mean IOP one year after implantation of the valve was 13.36 mm Hg and in those patients followed-up for five years IOP remained below 20 mm Hg. None of patients in whom an AV was implanted needed oral carbonic anhydrase inhibitors. Overall, 64.72% of the eyes with an AV implant did not need medication to regulate IOP. Postsurgically, of 35.28% of 17 eyes that needed topical medication, we found that one eye (5,88%) required one drug, four eyes (23.52%) needed two drugs, and only one eye (5.88%) needed three drugs to maintain IOP below 20 mm Hg. Late surgical complications of AV placement were perivalvular conjunctival cysts in four cases (23.5%), exposition of the tube that needed repositioning in one case (5.88%), alterations of ocular movements in one (5.88%), and retinal detachment in another (5.88%). Conclusion: AV implantation is effective in the treatment of refractory childhood glaucoma as it decreases IOP by 100% with or without coadjuvant medication in the follow-up of our patients. Of all patients, 64.7% did not need topical medication after surgery and none of the patients needed systemic medication to regulate IOP (AU)

Clinical evaluation of Ahmed glaucoma valve implantation for uncontrolled primary congenital glaucoma / 国际眼科杂志(Guoji Yanke Zazhi)

?AlM: To investigate the outcome and safety of Ahmed glaucoma valve implantation treatment in uncontrolled primary congenital glaucoma ( PCG) . ? METHODS: Twenty - two eyes in 22 children with uncontrolled PCG were reviewed retrospectively and underwent Ahmed glaucoma valve implantation treatment from January 2011 to December 2014. Main checking index included intraocular pressure ( lOP ) before and after operation, corneal diameter and complications. ?RESULTS: Preoperative mean age was 3. 74±2. 24y, and 2. 59 ± 1. 78y apart from the last operation. Postoperative average lOP was 35. 22 ± 6. 36mmHg. Average corneal diameter was 12. 79 ± 0. 75mm. Mitomycin C ( 0. 3 - 0. 5mg/mL ) was used in all operations for 3-5min. Glaucoma valves were implanted in the temporal or nose above the equator sclera. Postoperative lOP was 11. 4±4. 45mmHg at 1wk, and 16. 73± 7. 23mmHg after 12mo. As lOP ?CONCLUSlON:Ahmed glaucoma valve implantation in uncontrolled PCG is a safe and viable treatment.