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Experimental Eye Research Jan 2020Childhood glaucoma is an important cause of blindness world-wide. Eleven genes are currently known to cause inherited forms of glaucoma with onset before age 20. While... (Review)
Review
Childhood glaucoma is an important cause of blindness world-wide. Eleven genes are currently known to cause inherited forms of glaucoma with onset before age 20. While all the early-onset glaucoma genes cause severe disease, considerable phenotypic variability is observed among mutations carriers. In particular, FOXC1 genetic variants are associated with a broad range of phenotypes including multiple forms of glaucoma and also systemic abnormalities, especially hearing loss. FOXC1 is a member of the forkhead family of transcription factors and is involved in neural crest development necessary for formation of anterior eye structures and also pharyngeal arches that form the middle ear bones. In this study we review the clinical phenotypes reported for known FOXC1 mutations and show that mutations in patients with reported ocular anterior segment abnormalities and hearing loss primarily disrupt the critically important forkhead domain. These results suggest that optimal care for patients affected with anterior segment dysgenesis should include screening for FOXC1 mutations and also testing for hearing loss.
Topics: Anterior Eye Segment; Child; Eye Abnormalities; Eye Diseases, Hereditary; Forkhead Transcription Factors; Glaucoma; Hearing Loss, Sensorineural; Humans; Hydrophthalmos; Mutation; Phenotype
PubMed: 31836490
DOI: 10.1016/j.exer.2019.107893 -
American Journal of Ophthalmology Case... Mar 2022To report a case of bilateral congenital stromal iris cyst in a neonate.
PURPOSE
To report a case of bilateral congenital stromal iris cyst in a neonate.
OBSERVATIONS
A one-month-old male child was brought with complaints of watering in both eyes and enlargement of the left eye since birth. Examination under anesthesia revealed an elevated IOP in both the eyes. The left eye had buphthalmos with hazy cornea and central corneal scarring. Ultrasound biomicroscopy revealed the presence of a stromal cyst in both the eyes and a cataractous lens in the left eye. While the right eye responded to topical glaucoma medications, the left eye continued to have a high IOP and hence, it was managed surgically.
CONCLUSIONS AND IMPORTANCE
This rare case of bilateral stromal iris cyst in a neonate presented with a unique diagnostic and management challenge.
PubMed: 35106401
DOI: 10.1016/j.ajoc.2022.101261 -
Journal of AAPOS : the Official... Oct 2006
Topics: Abnormalities, Multiple; Anterior Chamber; Brain; Eye Abnormalities; Fatal Outcome; Humans; Hydrophthalmos; Infant; Infant, Newborn; Male; Microphthalmos; Muscular Dystrophies; Optic Nerve; Persistent Fetal Circulation Syndrome; Retinal Detachment; Syndrome; Ultrasonography
PubMed: 17070491
DOI: 10.1016/j.jaapos.2006.06.016 -
Journal of AAPOS : the Official... Jun 2022We previously showed that Ologen increased success and survival rates of Ahmed glaucoma devices in a small number of children. The current study analyzed the same...
BACKGROUND
We previously showed that Ologen increased success and survival rates of Ahmed glaucoma devices in a small number of children. The current study analyzed the same surgical technique in an expanded cohort.
METHODS
Retrospective interventional case series of children who underwent Ologen augmentation of Ahmed glaucoma device (OAGD) from 2018 to 2021 with ≥6 months' postoperative follow-up. Complete success was defined as intraocular pressure (IOP) of 5-20 mm Hg without glaucoma medications or additional IOP-lowering surgeries. Complete or qualified success was defined as above, except that IOP control was maintained with or without glaucoma medications.
RESULTS
A total of 26 eyes of 18 patients underwent OAGD at a median age of 2.0 years. Diagnoses included primary congenital glaucoma (5 eyes) and glaucoma secondary to nonacquired ocular anomalies (9 eyes), nonacquired systemic anomalies (8 eyes), and acquired conditions (4 eyes). Seventeen eyes had ≥1 prior eye surgery (average, 1.6 ± 0.9 surgeries per eye). Preoperative IOP was 29.4 ± 9.9 mm Hg on an average of 2.7 ± 1.0 glaucoma medications. At final follow-up (1.3 ± 1.0 years; median 1.0), IOP (13.4 ± 4.7 mm Hg) and number of glaucoma medications (0.3 ± 0.7, median 0) were significantly decreased (P < 0.0001). Complete success was achieved in 77% of eyes (20/26); Kaplan Meier analysis showed 1- and 3-year survival rates of 82% (95% CI, 59-93) and 60% (95% CI, 25-83), respectively. Complete or qualified success was achieved in 100% of eyes (26/26) at final follow-up. There were no visually devastating complications.
CONCLUSIONS
OAGD showed a high rate of success defined by decreased IOP and medication dependency in our study cohort of pediatric glaucoma patients.
Topics: Child, Preschool; Collagen; Follow-Up Studies; Glaucoma; Glaucoma Drainage Implants; Glycosaminoglycans; Humans; Hydrophthalmos; Intraocular Pressure; Retrospective Studies; Treatment Outcome; Visual Acuity
PubMed: 35550861
DOI: 10.1016/j.jaapos.2022.02.009 -
The British Journal of Ophthalmology Apr 1971
Topics: Adrenal Hyperplasia, Congenital; Cortisone; Desoxycorticosterone; Dexamethasone; Humans; Hydrocortisone; Hydrophthalmos; Infant, Newborn; Infant, Newborn, Diseases; Male
PubMed: 5572270
DOI: 10.1136/bjo.55.4.275 -
Transactions of the American... Dec 2011To use an integrated proteohistologic approach to gain insight into the anterior segment alterations in the buphthalmic rabbit. (Review)
Review
PURPOSE
To use an integrated proteohistologic approach to gain insight into the anterior segment alterations in the buphthalmic rabbit.
METHODS
Eyes from 2- and 5-year-old buphthalmic and normal rabbits (n=20) were studied histologically. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) of aqueous humor (AH) was used to determine differential protein expression between animal groups. Western blot and immunohistochemistry were performed on selected differentially expressed proteins identified by LC-MS/MS.
RESULTS
The buphthalmic rabbits manifested a mild clinical phenotype with typical angle anomalies that appeared progressive by histology. Significantly thickened Descemet's membrane (DM) and anterior lens capsule in all buphthalmic rabbits showed increased fibronectin and collagen-IV immunolabeling. LC-MS/MS applying stringent filtering criteria revealed significant differential expression of several AH proteins in these rabbits. The protein of interest in the 2-year-old group was histidine-rich glycoprotein, and those in the 5-year-old group included alpha-2-HS-glycoprotein, clusterin, apolipoprotein E, interphotoreceptor retinoid-binding protein, transthyretin, cochlin, gelsolin, haptoglobin, hemopexin, and beta-2 microglobulin. The proteomic data for selected proteins was validated by Western blot and immunohistochemistry. A wide range of functional groups were affected by the altered AH proteins. These included extracellular matrix modulation, regulation of apoptosis, oxidative stress, and protein transport.
CONCLUSIONS
Multiple anterior segment alterations were histologically identified in the buphthalmic rabbits that showed progressive changes with age. The differentially expressed AH proteins in these rabbits suggest a multifunctional role for AH in modulating pathologic changes in DM, anterior lens capsule, and the angular meshwork in these animals.
Topics: Animals; Anterior Eye Segment; Aqueous Humor; Blotting, Western; Case-Control Studies; Chromatography, Liquid; Disease Models, Animal; Eye Proteins; Hydrophthalmos; Intraocular Pressure; Proteome; Proteomics; Rabbits; Tandem Mass Spectrometry
PubMed: 22253484
DOI: No ID Found -
Cancers Dec 2021Primary enucleation of the eye with retinoblastoma is a widely accessible, life-saving treatment for retinoblastoma. This study evaluated the survival of patients...
Primary enucleation of the eye with retinoblastoma is a widely accessible, life-saving treatment for retinoblastoma. This study evaluated the survival of patients following primary enucleation based on AJCC 8th edition staging. Included were 700 consecutive patients (700 eyes) treated with primary enucleation at 29 Chinese treatment centers between 2006 and 2015. Excluded were patients with less than one year follow-up, bilateral retinoblastoma, clinical evidence of extraocular disease at diagnosis, or prior focal or systemic therapy. The 5-year overall survival was 95.5%, and 5-year disease-specific survival (DSS) was 95.7%. Survival was better when enucleation was <26 days from diagnosis than delayed >26 days (96.1% vs. 86.9%; = 0.017). Patients with eyes presenting with raised intraocular pressure with neovascularization and/or buphthalmos (cT3c) had worse 5-year DSS (87.1%) than those without (cT2b, 99.1%; cT3b, 98.7%; cT3d, 97.2%) ( < 0.05). The 5-year DSS based on pathological staging was pT1 (99.5%), pT2a (95.5%), pT3a (100%), pT3b (93.0%), pT3c/d (92.3%), and pT4 (40.9%). Patients with pT3 pathology who received six cycles of adjuvant chemotherapy had better 5-year DSS (97.7%) than those with no chemotherapy (88.1%; = 0.06) and those who underwent 1-3 cycles (86.9%, = 0.02) or 4-5 cycles (89.3%, = 0.06). Patients with pT4 pathology who received six cycles of chemotherapy had better 5-year DSS than those with 0-5 cycles (63.6% vs. 16.7%; = 0.02). Prompt primary enucleation yielded high long-term survival for children with retinoblastoma. The AJCC 8th edition staging is predictive of survival.
PubMed: 34944860
DOI: 10.3390/cancers13246240 -
American Journal of Ophthalmology Dec 2023To evaluate the outcomes of microcatheter-assisted trabeculotomy (MAT) in childhood glaucoma (primary congenital glaucoma [PCG], juvenile open-angle glaucoma [JOAG], and...
PURPOSE
To evaluate the outcomes of microcatheter-assisted trabeculotomy (MAT) in childhood glaucoma (primary congenital glaucoma [PCG], juvenile open-angle glaucoma [JOAG], and secondary childhood glaucoma [SCG]) after failed glaucoma surgery.
DESIGN
Retrospective interventional case series.
METHODS
Patients with childhood glaucoma who underwent MAT after failed glaucoma surgery with at least 12 months of follow-up were evaluated. Pre- and postoperative intraocular pressure (IOP) and the number of glaucoma medications were recorded and compared. Success was defined as an IOP ≤21 mm Hg with or without glaucoma medication. Analysis of variance was used to compare the glaucoma subgroups.
RESULTS
Forty-five eyes (42 patients) with a median follow-up period of 19 months were included. The median age at the time of MAT was 10 (range, 0.8-33) years. The mean number of previous surgeries was 1.3 ± 0.5. The IOP had significantly reduced from baseline in all PCG, JOAG, and SCG patients (27.9 ± 4.5 vs 16.3 ± 8.0 mm Hg, P = .001; and 30.8 ± 9.4 vs 13.5 ± 3.0 mm Hg, P < .001; and 31.5 ± 7.1 vs 16.5 ± 5.3 mm Hg, P = .001, respectively). Fewer glaucoma medications were needed after MAT in all 3 groups (each P < .001). At the last visit, the total success rates in PCG, JOAG, and SCG were 93.8%, 100%, and 88.9%, respectively. No severe complications were observed.
CONCLUSION
MAT can effectively manage PCG, JOAG, and SCG after failed surgeries, providing successful outcomes and no serious complications. Following failed glaucoma surgeries, MAT may offer these patients with childhood glaucoma an excellent opportunity to achieve IOP control.
Topics: Humans; Infant; Child, Preschool; Child; Adolescent; Young Adult; Adult; Trabeculectomy; Glaucoma, Open-Angle; Retrospective Studies; Treatment Outcome; Hydrophthalmos; Glaucoma; Intraocular Pressure; Trabecular Meshwork; Follow-Up Studies
PubMed: 37516402
DOI: 10.1016/j.ajo.2023.07.019 -
Acta Ophthalmologica Sep 2022Primary congenital glaucoma (PCG) is a form of childhood glaucoma caused by maldevelopment of the anterior chamber. Disease severity differs greatly amongst patients.... (Review)
Review
PURPOSE
Primary congenital glaucoma (PCG) is a form of childhood glaucoma caused by maldevelopment of the anterior chamber. Disease severity differs greatly amongst patients. Ultrasound biomicroscopy (UBM) is a non-invasive technique that can visualize the anterior segment in infants in vivo. The purpose of this narrative review is to make an overview of the UBM data in PCG and study the applicability of UBM in characterizing the disease.
METHODS
An online search was performed on PubMed in December 2020. After a critical appraisal of the included articles, study and patient characteristics were summarized. The UBM measurements of the anterior segment in PCG of the different studies were analysed.
RESULTS
Six studies were included in this review. All were cross-sectional prospective studies. A total of 221 PCG eyes were examined. PCG eyes showed a larger trabecular iris angle, decreased iris thickness, narrower or absent Schlemm's canal and an increased zonular length compared to controls. Abnormal tissue membrane covering the trabecular meshwork and abnormal insertion of the iris and ciliary process were frequently found. The success rate of glaucoma surgery depended on the severity of anterior segment malformations found with UBM.
CONCLUSION
Malformations of the anterior segment in PCG can be demonstrated by UBM in vivo. This imaging can help to characterize disease severity and might support surgical treatment decisions.
Topics: Anterior Eye Segment; Ciliary Body; Glaucoma, Angle-Closure; Humans; Hydrophthalmos; Infant; Iris; Microscopy, Acoustic; Prospective Studies
PubMed: 34939345
DOI: 10.1111/aos.15082 -
JAMA Ophthalmology May 2017The ocular manifestations and sequelae of Zika virus infection are not well known. Recently, the World Health Organization changed the declaration of Zika as a public...
IMPORTANCE
The ocular manifestations and sequelae of Zika virus infection are not well known. Recently, the World Health Organization changed the declaration of Zika as a public health emergency and designated the viral outbreak and related microcephaly clusters as a long-term program of work. This change indicates the urgent need to evaluate and document ophthalmic manifestations in patients for timely management of this disease. In addition, confirmation whether the public health problem in Brazil extends to other regions in South America is needed.
OBJECTIVE
To report the ocular manifestations of congenital Zika syndrome with microcephaly in Colombia and Venezuela.
DESIGN, SETTING, AND PARTICIPANTS
This prospective case series included 43 patients from 2 ophthalmic centers in Colombia and Venezuela who underwent evaluation from October 1, 2015, through June 30, 2016, and were clinically diagnosed with congenital Zika syndrome. Twenty patients were Hispanic; 13, African; 8, white; and 2, Native American.
INTERVENTIONS
Ophthalmic and systemic evaluations and serologic testing were performed on all infants. Patients underwent external ocular examination and dilated ophthalmoscopy. Serologic testing ruled out toxoplasmosis, rubella, cytomegalovirus, syphilis, and human immunodeficiency virus.
MAIN OUTCOMES AND MEASURES
Ophthalmic manifestations of congenital Zika syndrome.
RESULTS
Of the 43 patients included in this series (28 female and 15 male), the mean (SD) age at examination was 2.1 (1.5) months. The mothers of all the children had no ophthalmic findings and did not report ocular symptoms during pregnancy. All patients had bilateral ophthalmic manifestations. Optic nerve findings included hypoplasia with the double-ring sign, pallor, and increased cup-disc ratio in 5 patients (11.6%). Macular abnormalities included mild to severe pigment mottling in 27 patients (63%) and lacunar maculopathy in 3 (6.9%). Chorioretinal scarring was present in 3 patients (7%). Eleven patients (26%) had a combination of lesions in the posterior pole. Five patients (12%) were diagnosed with congenital glaucoma, characterized by the clinical triad of epiphora, photophobia, and blepharospasm; increased intraocular pressure; corneal clouding at birth; and buphthalmos. These data reveal that 12% (95% CI, 5%-24%) of cases of congenital Zika with microcephaly had anterior segment abnormalities and 88% (95% CI, 76%-94%) had important macular and optic nerve abnormalities. The visual sequelae of these ophthalmic manifestations remain unknown.
CONCLUSIONS AND RELEVANCE
Congenital Zika syndrome in the current study had severe ocular abnormalities, and all patients had bilateral involvement. Ocular findings were focal macular pigment mottling, chorioretinal atrophy with a predilection for the macular area, congenital glaucoma and optical nerve hypoplasia, and optic disc abnormalities. Ophthalmic examination is recommended in patients with congenital Zika syndrome.
Topics: Colombia; Eye Abnormalities; Female; Humans; Incidence; Infant; Male; Ophthalmoscopy; Pregnancy; Pregnancy Complications, Infectious; Prospective Studies; Syndrome; Venezuela; Zika Virus; Zika Virus Infection
PubMed: 28418539
DOI: 10.1001/jamaophthalmol.2017.0561