Unilateral Congenital Glaucoma Research Articles

Progression to bilaterality in unilateral primary congenital glaucoma

PurposeTo evaluate the incidence of rise in intraocular pressure (IOP) in fellow eyes of patients with unilateral primary congenital glaucoma (PCG) and to identify risk factors for IOP increase over long-term follow-up. MethodsThe medical records of unilateral PCG patients who had completed at least 5 years of follow-up were reviewed retrospectively. The incidence of developing ocular hypertension / glaucoma in fellow eyes was analyzed. Fellow eye progressors were those which showed an increase in optic nerve cupping by at least 0.2 since the first presentation or had IOP of >21 mm Hg on two occasions. The risk factors for progression that were analyzed included IOP, visual acuity, axial length, central corneal thickness (CCT), corneal diameters (CD), presence or absence of angle dysgenesis on high-resolution anterior segment optical coherence tomography (AS-OCT), and morphology of aqueous outflow pathways. ResultsAfter a median follow-up of 8.2 years (range, 5-25.5) progression to bilateral disease was found in 17 of 54 patients (32%), of whom 8 (15%) developed ocular hypertension and 9 (17%) developed glaucoma in the fellow eye. Among the unaffected fellow eyes, those with a larger CD (>12 mm), measured after at least 5 years’ follow-up, were ten times more likely to progress (P = 0.01; OR = 9.5 [95% CI, 1.7-54.3]). The presence of a patent supraciliary channel was significantly more frequently associated in fellow eyes compared with affected eyes on AS-OCT (OR = 1.4 [95% CI, 0.46-4.68]). ConclusionsOne-third of unaffected fellow eyes of unilateral PCG eventually progress over time, most often after 5 years. Larger CD at follow-up in the fellow eye is strongly predictive for progression.

Macular and peripapillary vascular parameters in the fellow eyes of unilateral primary congenital glaucoma: a comparative study

PurposeTo study the fellow eyes of patients with unilateral primary congenital glaucoma (PCG) using optical coherence tomography angiography (OCTA) and compare them to normal age- and refractive error–matched healthy controls. MethodsUsing OCTA, the foveal avascular zone (FAZ) area, cup:disk ratio, vessel density (VD) of the optic nerve head (ONH) and peripapillary area and the macular VD in superficial (SCP) and deep vascular complexes in both 3 mm and 6 mm scans of both groups were compared. Clinical data included best-corrected visual acuity (BCVA), cycloplegic refraction, intraocular pressure (IOP), anterior and posterior segments examination findings, including ONH cup:disk ratio. ResultsA total of 48 eyes of 48 children (24 eyes in each group) were included. There was no difference in the mean RNFL thickness, cup:disk ratio, baseline visual acuity, or spherical equivalent between groups (P > 0.05). In the 3 mm macular scan, the VD of the SCP at the fovea was significantly higher in the PCG group compared to controls (P = 0.04). In the ONH scans, there was a significantly reduced inside the disk VD in the PCG group compared to controls (P = 0.03). There was no significant difference in other macular and ONH vascular parameters between groups (P > 0.05). ConclusionsIn our study cohort, there was no difference in most of the macular and ONH vascular parameters between groups. However, the fellow eyes of PCG patients exhibited higher VD of the SCP at the fovea and reduced inside the disk VD compared with control eyes.

Jednostronna jaskra wrodzona z wolooczem u dwóch sióstr – opis przypadków z długoterminową obserwacją

Primary congenital glaucoma is a rare condition but the most common form of glaucoma in infants. It occurs with variable frequency in different countries and ethnic groups. It is considered an autosomal recessively inherited disorder, but is known to occur as a result of de novo genetic mutations. It causes increased intraocular pressure on the background of congenital iridotrabeculodysgenesis and is a cause of severe optic neuropathy due to apoptotic degeneration of the retinal ganglion cell layer. We present the description of siblings with unilateral ipsilateral congenital glaucoma. Both sisters had corneal opacity and one had Haab’s striae at the time of diagnosis. Both patients underwent trabeculectomy by age one, less than 6 months after diagnosis. Results of regular follow-up examinations and long-term follow-up showed no changes in retinal morphology, no progression of the disease, and intraocular pressure stabilized over the long term.

Comparison between ocular biometry parameters in patients with unilateral congenital glaucoma.

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. 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. 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. 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.

Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia.

The term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited developmental disorders that affect several tissues of ectodermal origin. The most common form of EDs is hypohidrotic ectodermal dysplasia (HED), which is characterized by hypodontia, hypotrichosis, and partial or total eccrine sweat gland deficiency. HED is estimated to affect at least 1 in 17,000 people worldwide. Patients with HED have characteristic facies with periorbital hyperpigmentation, depressed nasal bridge, malar hypoplasia, and absent or sparse eyebrows and eyelashes. The common ocular features of HED include madarosis, trichiasis, and ocular chronic surface disease due to dry eye syndrome, which manifests clinically with discomfort, photophobia, and redness. Dry eye is common in HED and results from a combination of ocular surface defects: mucus abnormalities (abnormal conjunctival mucinous glands), aqueous tear deficiency (abnormalities in the lacrimal gland) and lipid deficiency (due to the partial or total absence of the meibomian glands; modified sebaceous glands with the tarsal plate). Sight-threatening complications result from ocular surface disease, including corneal ulceration and perforation with subsequent corneal scarring and neovascularization. Rare ocular features have been reported and include bilateral or unilateral congenital cataracts, bilateral glaucoma, chorioretinal atrophy and atresia of the nasolacrimal duct. Recognition of the ocular manifestations of HED is required to perform clinical surveillance, instigate supportive and preventative treatment, and manage ocular complications.

The cover photo shows different neovascularization types from the paper by Smid et al.

The cover photo shows different neovascularization types from the paper by Smid et al.

Differences in outflow channels between two eyes of unilateral primary congenital glaucoma.

Primary congenital glaucoma (PCG) occurs in only one eye in some patients. We aimed to characterize anatomical features of the angle and Schlemm's canal (SC) in vivo among fellow eyes of patients with unilateral primary congenital glaucoma. Both eyes of 33 children with unilateral PCG and 30 healthy, age-matched children, old enough to co-operate were analysed using high-resolution anterior segment spectral domain (SD) OCT. Subgroup analysis was done for the presence/absence of angle dysgenesis as defined by the presence of abnormal tissue/hyper-reflective membrane within angle recess and/or the absence of SC. Other anatomical landmarks differentiating the fellow eyes from eyes with glaucoma were also evaluated and compared with healthy subjects. The presence of abnormal tissue at the angle and/or a hyper-reflective membranous structure covering the meshwork was seen in all affected PCG eyes (100%) and in 21 (63%) unaffected fellow eyes; p=0.001. The SC could be seen in 8 (24%) affected in comparison with 29 (88%) fellow unaffected eyes; p=0.001. The ASOCT scans of 54 (90%) healthy eyes and 3 (9%) fellow PCG eyes revealed a direct communication of anterior portion of the SC with the anterior chamber. Among the fellow eyes, a communication of the supraciliary space with anterior chamber could be discerned in 26 eyes (79%). Despite angle dysgenesis, outflow channels such as the uveoscleral or a direct communication of SC with the anterior chamber play a role in preventing the development of glaucoma in fellow eyes of unilateral PCG.

Unilateral congenital glaucoma may be the earliest presenting sign of orbitofacial neurofibromatosis and intracranial lesions: a case series

Purpose The aim was to report a number of cases initially presenting with unilateral congenital glaucoma within the first year of life that subsequently were found to be associated with the orbitofacial variant of neurofibromatosis-1 (NF1) as well as with variable intracranial lesions. Patients and methods The records of 340 patients presenting with unilateral congenital glaucoma were retrospectively reviewed to identify patients who subsequently developed orbitofacial NF ipsilateral to the glaucoma or other manifestations of NF1. All clinical, radiological, or histopathological data for enucleated globes, if available, were reviewed. Results Seven patients were identified with a mean age at presentation of 4.3±5.4 months. They presented with unilateral buphthalmos and high intraocular pressure with subtle proptosis and/or lid swelling. The mean age at NF1 diagnosis was 23.14±18.5 months. Initial imaging reports were either read as ‘normal’ or described a lesion near the cavernous sinus (CS): CS thrombosis, clival meningioma, histiocytosis, carotid cavernous fistula, or CS hemangioma. Once the diagnosis of NF1 was made, subsequent imaging studies (computed tomography and/or MRI) showed a defect at the greater wing of sphenoid bone (all patients); neurofibroma involving the CS, orbit, and nearby intracranial and subcutaneous structures to varying degrees (all patients); and hamartomas at the level of the basal ganglia (six patients). Associated intracranial lesions were sphenoid wing meningioma, optic nerve glioma, and trigeminal schwannoma. Histopathology of two enucleated eyes showed glaucomatous changes with prominent ciliochoroidal hyperplasia in one case and a ciliary body schwannoma in another. Conclusion In newborns with unilateral congenital glaucoma, the differential diagnosis should include NF1. Targeted radiologic examinations may reveal diagnostic signs and decrease disease morbidity. The glaucoma surgeon may opt for earlier aggressive intervention in this potentially blinding disease.

Maternal and fetal outcomes associated with vagus nerve stimulation during pregnancy

ObjectiveTo access the effect of vagus nerve stimulation (VNS) on the outcome of pregnancy. MethodsWe used the International Registry of Antiepileptic Drugs and Pregnancy (EURAP) and its network to search for women receiving adjunctive VNS during pregnancy. Data on maternal and fetal outcomes were extracted from the registry databases and outcomes were evaluated. ResultsTwenty-six pregnancies were identified in 25 women. All women were exposed to a relative high VNS stimulation level (mean duty cycle 18%, range 5%–51%). Most women had seizures during pregnancy and almost 70% were on antiepileptic drug (AED) polytherapy. The proportion of women with obstetrical interventions was 53.9% (95% confidence interval [CI] 33.4%–73.4%) which was higher compared to the EURAP average (48.2%; 95% CI 47.2%–49.1%).One infant (3.9%; 95% CI 0.1%–19.6%) was born with a major malformation (unilateral congenital glaucoma), which is within the range expected among offspring of AED-treated women. ConclusionAlthough the present series of VNS-exposed pregnancies is the largest reported to date, the sample size is insufficient to draw any firm conclusions on the safety of VNS in pregnancy but the findings suggest an increased rate of obstetrical interventions, and no clear signal of VNS-related teratogenicity.

Randomized Trial on Illuminated-Microcatheter Circumferential Trabeculotomy Versus Conventional Trabeculotomy in Congenital Glaucoma

To compare 1-year outcomes of illuminated microcatheter-assisted circumferential trabeculotomy (IMCT) vs conventional partial trabeculotomy (CPT) for primary congenital glaucoma (PCG). Randomized clinical trial. Forty eyes of 31 patients with unilateral or bilateral primary congenital glaucoma aged less than 2 years were randomized to undergo IMCT (20 eyes) or CPT (20 eyes). Primary outcome measure was intraocular pressure (IOP) reduction. The success criterion was defined as IOP ≤ 12mm Hg without and with antiglaucoma medications (absolute success and qualified success, respectively). The mean age of our study population was 8.35 ± 1.2months. The mean preoperative IOP was 24.70 ± 3.90mm Hg in the IMCT group and 24.60 ± 3.31mm Hg in the CPT group. Both groups were comparable with respect to preoperative IOP, corneal clarity, corneal diameter, vertical cup-to-disc ratio, and refractive error. In the IMCT group, 360-degree cannulation was achieved in 80% (16/20) of eyes. For the IMCT group and CPT groups, respectively, the absolute success rates were 80% (16/20) and 60% (12/20) (P < .001) and qualified success rates were 90% (18/20) and 70% (14/20) (P < .001). Both procedures produced a statistically significant reduction in IOP, and eyes undergoing IMCT achieved a lower IOP than CPT group eyes at 12months follow-up (9.5 ± 2.4mm Hg and 11.7 ± 2.1mm Hg, respectively, P < .001). In primary congential glaucoma, illuminated microcatheter-assisted 360-degree circumferential trabeculotomy performed better than conventional partial trabeculotomy at 1 year follow-up and resulted in significantly lower IOP measurements.

Corneal profile in primary congenital glaucoma.

To investigate biomechanical and ultrastructural corneal parameters and ocular biometrics in the affected eyes of patients with unilateral primary congenital glaucoma (PCG) as compared to unaffected fellow eyes and age-matched healthy controls. A total of 12 patients with treated unilateral PCG and 10 normal subjects were evaluated. LENSTAR was performed to determine biometric parameters; the ocular response analyser was employed to determine biomechanical properties and slit-scanning confocal microscopy was used for evaluation of corneal ultrastucture. Axial length was significantly higher and mean keratometry in affected eyes was significantly flatter in affected eyes as compared to fellow eyes and normal controls (p<0.05), and a negative correlation was present between axial length and mean keratometry (p<0.05). Mean aqueous depth and anterior chamber depth were increased in affected eyes as compared to fellow eyes and normal controls (p<0.05). There was no significant difference in central corneal thickness (CCT) among affected eyes, fellow eyes and normal controls. Corneal hysteresis (CH) was significantly reduced in affected eyes (p<0.05) and corneal resistance factor (CRF) was also reduced in the affected eyes as compared to fellow eyes and normal controls, although not statistically significant. Mean endothelial cell density was reduced in the affected eyes compared to fellow eyes and normal controls (p<0.05). Corneal biometrics, biomechanical parameters and ultrastructural features are altered in eyes affected with PCG despite clinically normal and clear corneas. These findings should be considered in the preoperative assessment of intraocular or corneal surgery in these patients.

Fellow Eye in Unilateral Primary Congenital Glaucoma.

ABSTRACTAimThis is a report of the incidence of bilateral cases in a cohort of primary congenital glaucoma (PCG) cases and a study of the biometric characteristics of the fellow normal eyes in unilateral cases.Materials and methodsThe charts of 134 PCG children were reviewed, of which 78 cases (58.2%) were found to have bilateral disease. The remaining 56 patients (41.8%) with unilateral disease had their fellow normal eyes compared with an age-matched cohort of ophthalmologically free children.ResultsThere were no differences between the normal fellow eyes of PCG cases and the control eyes in the corneal diameter and central corneal thickness (CCT), whereas the normal fellow eyes of PCG cases had higher intraocular pressure (IOP) and cup/disc (C/D) ratios.ConclusionThe fellow eyes of apparently unilateral PCG cases are not typically normal anatomically like other children unaffected by PCG.Clinical significanceA very high index of suspicion has to be kept for PCG cases that present apparently unilaterally, and meticulous prolonged follow-up is mandatory.How to cite this articleBayoumi NHL. Fellow Eye in Unilateral Primary Congenital Glaucoma. J Curr Glaucoma Pract 2017;11(1):28-30.

Childhood orbitotemporal neurofibromatosis with congenital glaucoma – A clinical and neuroradiological report

In infants with unilateral congenital glaucoma, orbitotemporal neurofibromatosis should be included in the differential diagnosis. We present an unusual case of neurofibromatosis type-1 with unilateral congenital glaucoma, buphthalmos and spheno-orbital dysplasia. The neuroimaging features are discussed. Presence of all the syndromic features at 6 months of life have rarely been described in the literature.

Corneal Changes Assessed Using Confocal Microscopy in Patients With Unilateral Buphthalmos

To compare corneal structures in buphthalmic eyes and healthy eyes in patients with unilateral congenital glaucoma using a corneal confocal microscope. Ten patients with unilateral buphthalmos (mean ± SD age, 14.85 ± 5.12 years) were examined using corneal confocal microscopy. The cell density and cell area of endothelial cells and superficial and basal epithelial cells and the number of keratocytes were evaluated. There was no significant difference between the cell density of superficial epithelial cells in buphthalmic eyes relative to healthy eyes (P = 0.1944). The cell density of basal epithelial cells was significantly higher (P = 0.0234) and the cell area was significantly smaller (P = 0.0181) in buphthalmic eyes relative to healthy eyes. There was no difference between the number of keratocytes in buphthalmic eyes and healthy eyes in the anterior stroma (P = 0.273) or in the posterior stroma (P = 0.0799). The cell density of endothelial cells was significantly lower and the cell area was significantly larger in buphthalmic eyes relative to healthy eyes (P = 0.0009). We demonstrated a lower cell density of endothelial cells in buphthalmic eyes. We found no differences in keratocyte density between the buphthalmic eyes and healthy eyes. The cell density of basal epithelial cells was higher in buphthalmic eyes. These differences could be due to buphthalmos or due to the previous surgical and medical therapies. Monitoring of these changes could help to contribute to accurate assessments regarding future ocular surgical procedures.

Childhood Orbitotemporal Neurofibromatosis Masked by Congenital Glaucoma and Buphthalmos

In newborns with unilateral buphthalmos and presumed congenital glaucoma, the differential diagnosis should include the rare condition of orbitotemporal neurofibromatosis. The authors present the diagnostic challenge of an unusual case of neurofibromatosis type 1 with unilateral congenital glaucoma, buphthalmos, and sphenoid-orbital dysplasia. The accompanying type of osseous orbital dysplasia has rarely been described in the literature, complicating the diagnostic and management process.

Unilateral congenital glaucoma in a child with optic nerve aplasia

Unilateral optic nerve aplasia is a rare, nonhereditary defect associated with anterior chamber malformations and other ocular malformations. We report the case of an 8½-week-old boy with unilateral optic nerve aplasia who was diagnosed with glaucoma on presentation with corneal edema and an intraocular pressure of 36 mm Hg. The cornea edema cleared after a trabeculotomy, and subsequent fundus examination revealed optic nerve aplasia that was confirmed with magnetic resonance imaging. Intraocular pressure remained well-controlled with 7½ months of follow-up. To our knowledge, this is the first documented case of optic nerve aplasia associated with glaucoma at presentation.

A 10.0-mm Posterior Lamellar Graft for Bullous Keratopathy in a Buphthalmic Eye

To report a case of Descemet stripping endothelial keratoplasty (DSEK) with a large posterior lamellar graft for the treatment of bullous keratopathy secondary to congenital glaucoma. Bullous keratopathy secondary to unilateral congenital glaucoma with buphthalmos in a 36-year-old man was treated with DSEK. A Descemet endothelium lamella of 10-mm diameter was excised by descemetorhexis. A regular sclerocorneal donor button of 12-mm diameter was manually split using the Melles technique, and a 10-mm diameter donor graft was punched. The graft was implanted as a folded "Taco" into the anterior chamber using forceps and fixed to the host bed using an intracameral air bubble. : Immediately after DSEK, the graft showed a small peripheral dehiscence of 1 × 3 mm, which resolved within 2 days. During 30 months of follow-up, the endothelial graft remained well centered, clear, and without any signs of graft rejection. Visual acuity improved from perception of hand movement before operation to 0.2 at 30 months after DSEK. Endothelial cell loss was 33% at 18 months, 44% at 24 months, and 47% at 30 months after operation. Maximum intraocular pressure was 15 mm Hg preoperatively and 16 mm Hg at the last follow-up. DSEK using a corneal graft of 10.0-mm diameter obtained from a normal-sized donor button can be performed safely and effectively in cases of unilateral buphthalmos and secondary corneal decompensation, where a large recipient cornea requires an equivalently sized graft and transplantation of large amounts of donor endothelium.

Sturge–Weber syndrome

Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and congenital glaucoma. The interest of this syndrome for pediatric neurosurgeons is mainly related to the association of SWS with epilepsy in 75-90% of the cases. Seizures are resistant to medical treatment in almost 60% of these patients that consequently should be evaluated for epilepsy surgery. Children with SWS and drug-resistant epilepsy are optimal candidates for disconnective or resective surgical procedures in terms of both seizure control and intellectual outcomes. Controversies, however, still exist between the advantages of early "prophylactic" operation vs later surgical interventions. Though better results in terms of seizures control and psychomotor development were reported in a limited series of children operated on early in life, the insufficient number of subjects who underwent the surgical treatment does not allow definite conclusions yet. Visually guided lobectomy with complete excision of the angiomatous cortex should be considered as the primary surgical procedure in patients with focal lesions. Hemispherectomy is the treatment of choice in children with extensive hemispheric lesions.

The Association of Unilateral Congenital Glaucoma and Congenital Lower Lid Entropion: Causal or Casual?

This case documents unilateral congenital glaucoma associated with congenital lower lid entropion. A 2-year-old female infant was referred for evaluation and treatment of right-side buphthalmos caused by congenital glaucoma associated with bilateral congenital lower lid entropion that was prominent on the right side and present at birth. Examination disclosed a lower eyelid entropion of the right side that was treated surgically by reinserting the disinserted retractor aponeurosis to anterior inferior tarsal border. After three weeks, the patient was successfully treated with primary combined trabeculotomy-trabeculectomy for congenital glaucoma. The entropion of the left lower lid was asymptomatic and did not require any surgery. Buphthalmos caused by congenital glaucoma may be associated with congenital lower lid entropion and the association may be causal or coincidental.

Ocular Neurofibromatosis

A 4 1/2 month-old girl with unilateral congenital glaucoma of the left eye subsequently underwent five surgical procedures that proved to be unsuccessful in controlling the intraocular pressure. Neurofibromatosis was diagnosed at the age of 51/2 years when she was found to have a plexiform neuroma of the left eyelids and multiple cafe au lait spots including in the left temple. Two years later the buphthalmic left globe was enucleated. Histopathologic findings included a diffuse neurofibroma of the ciliary body and choroid, peripheral anterior synechiae, total angle closure, and endothelialization of the iris, all of which probably contributed to the glaucoma. Other interesting features were melanocytic hamartomas of the iris, an anterior subcapsular cataract and ovoid bodies in the diffuse neurofibroma of the choroid.