Ectropion Uveae Research Articles

Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature

ABSTRACTPurpose: To report anterior segment features in unclassified anterior segment dysgenesis with overlapping features of Axenfeld-Rieger syndrome and other developmental anomalies. Methods: This retrospective study included those with atypical or overlapping features in one or both eyes, which were identified as unclassified ASD. Typical ARS was defined as the presence of posterior embryotoxon with or without iris changes like stromal hypoplasia, corectopia, polycoria, or ectropion uvea with or without systemic features. Cases of ARS with overlapping features with other ASD, like aniridia (complete or incomplete absence of iris), iridocorneal endothelial (ICE) syndrome (beaten metal appearance of corneal endothelium), Peters anomaly, isolated trabeculodysgenesis (evidenced by Haab’s striae, buphthalmos, and epiphora) in one or both eyes with other typical ARS features in the same or other eye were included and screened. Results: Of 56 cases of ARS seen over 10 years, a total of 17 eyes of 11 cases (M:F=9:2, unilateral n=3) with unclassified ASD were identified with a median age of patients of 28.45±17.75 years (range 6–30 years). All cases of unclassified ASD had the presence of focal atypical strands of non-progressive anterior synechiae extending from the iris mid-periphery to the cornea with no attachments to the Schwalbe’s line in any case. Adjacent keratic precipitates or pigment were present in three eyes with focal beaten metal appearance in one eye. Three patients developed repeated episodes of anterior uveitis in one eye with stromal involvement seen in all cases, which responded to antiviral therapy. Conclusions: Atypical features like focal strands with differential corneal involvement and onset of viral uveitis in unclassified ARS suggest a possible viral etiology during different periods of eye development.

Optical Coherence Tomography Angiography Characteristics of Iris Melanocytic Tumors

To evaluate tumor vasculature with optical coherence tomography angiography (OCTA) in malignant iris melanomas and benign iris lesions. Cross-sectional observational clinical study. Patients with iris lesions and healthy volunteers. Eyes were imaged using OCTA systems operating at 1050- and 840-nm wavelengths. Three-dimensional OCTA scans were acquired. Iris melanoma patients treated with radiation therapy were imaged again after I-125 plaque brachytherapy at 6 and 18 months. OCT and OCTA images, qualitative evaluation of iris and tumor vasculature, and quantitative vessel density. One eye each of 8 normal volunteers and 9 patients with iris melanomas or benign iris lesions, including freckles, nevi, and an iris pigment epithelial (IPE) cyst, were imaged. The normal iris has radially oriented vessels within the stroma on OCTA. Penetration of flow signal in normal iris depended on iris color, with best penetration seen in light to moderately pigmented irides. Iris melanomas demonstrated tortuous and disorganized intratumoral vasculature. In 2 eyes with nevi there was no increased vascularity; in another, fine vascular loops were noted near an area of ectropion uveae. Iris freckles and the IPE cyst did not have intrinsic vascularity. The vessel density was significantly higher within iris melanomas (34.5%±9.8%, P < 0.05) than in benign iris nevi (8.0%±1.4%) or normal irides (8.0%±1.2%). Tumor regression after radiation therapy for melanomas was associated with decreased vessel density. OCTA at 1050 nm provided better visualization of tumor vasculature and penetration through thicker tumors than at 840 nm. But in very thick tumors and highly pigmented lesions even 1050-nm OCTA could not visualize their full thickness. Interpretable OCTA images were obtained in 82% of participants in whom imaging was attempted. This is the first demonstration of OCTA in iris tumors. OCTA may provide a dye-free, no-injection, cost-effective method for monitoring a variety of tumors, including iris melanocytic lesions, for growth and vascularity. This could be helpful in evaluating tumors for malignant transformation and response to treatment. Penetration of the OCT beam remains a limitation for highly pigmented tumors, as does the inability to image the entire iris in a single field.

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

Anterior segment dysgeneses (ASDs) comprise a spectrum of developmental disorders affecting the anterior segment of the eye. Here, we describe three unrelated families affected by a previously unclassified form of ASD. Shared ocular manifestations include bilateral iris hypoplasia, ectopia lentis, corectopia, ectropion uveae, and cataracts. Whole-exome sequencing and targeted Sanger sequencing identified mutations in CPAMD8 (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8) as the cause of recessive ASD in all three families. A homozygous missense mutation in the evolutionarily conserved alpha-2-macroglobulin (A2M) domain of CPAMD8, c.4351T>C (p. Ser1451Pro), was identified in family 1. In family 2, compound heterozygous frameshift, c.2352_2353insC (p.Arg785Glnfs∗23), and splice-site, c.4549-1G>A, mutations were identified. Two affected siblings in the third family were compound heterozygous for splice-site mutations c.700+1G>T and c.4002+1G>A. CPAMD8 splice-site mutations caused aberrant pre-mRNA splicing in vivo or in vitro. Intriguingly, our phylogenetic analysis revealed rodent lineage-specific CPAMD8 deletion, precluding a developmental expression study in mice. We therefore investigated the spatiotemporal expression of CPAMD8 in the developing human eye. RT-PCR and in situ hybridization revealed CPAMD8 expression in the lens, iris, cornea, and retina early in development, including strong expression in the distal tips of the retinal neuroepithelium that form the iris and ciliary body, thus correlating CPAMD8 expression with the affected tissues. Our study delineates a unique form of recessive ASD and defines a role for CPAMD8, a protein of unknown function, in anterior segment development, implying another pathway for the pathogenicity of ASD.

Urrets-Zavalia syndrome in different methods of keratoplasty.

Urrets-Zavalia was first described as a syndrome consisting of a fixed, dilated pupil with iris atrophy following penetrating keratoplasty (PKP) in 1963 and back then it was thought that this syndrome was only related to keratoconus patients[1]. Other findings that were not essential for the diagnosis were posterior synechiae, ectropion uvea, pigment dispersion, anterior subcapsular lens opacities and secondary glaucoma syndrome[1]. Subsequently, this syndrome was described after PKP for corneal dystrophy, deep anterior lamellar keratoplasty (DALK), descemet stripping endothelial keratoplasty (DSEK), goniotomy, laser iridoplasty, iatrogenic mydriasis and after implantation of phakic intraocular lenses[2]–[8]. The present study was undertaken to report the prevalence of Urrets-Zavalia syndrome in different methods of keratoplasty.

Clinical Features Predictive of High-Risk Retinoblastoma in 403 Asian Indian Patients: A Case-Control Study

To identify the clinical features predictive of high-risk retinoblastoma on histopathology. Case-control study. A total of 145 cases with histopathologic high-risk features of retinoblastoma and 258 controls without high-risk features. Enucleation and adjuvant chemotherapy. High-risk features on histopathology were defined as the presence of anterior chamber seeds, iris infiltration, ciliary body infiltration, massive (≥ 3 mm) choroidal invasion, postlaminar optic nerve invasion, invasion of optic nerve transection, combined nonmassive choroidal and prelaminar/laminar optic nerve invasion, or scleral/extrascleral infiltration. Of 403 patients who underwent primary enucleation for the treatment of retinoblastoma, 145 (36%) had high-risk features on histopathology (cases) and 258 (64%) had no high-risk features (controls). High-risk retinoblastoma occurred in 16% of (8/50) group D eyes and 39% of (137/353) group E eyes. The histopathologic high-risk features in these 145 patients included anterior chamber seeds (n = 25, 17%), iris infiltration (n = 12, 8%), ciliary body infiltration (n = 17, 12%), massive (≥3 mm) choroidal invasion (n = 69, 48%), postlaminar optic nerve invasion (n = 71, 49%), invasion of optic nerve transection (n = 3, 2%), combined choroidal and optic nerve invasion (n = 17, 12%), scleral infiltration (n = 20, 14%), and extrascleral involvement (n = 8, 6%). The mean number of high-risk features was 2 (median, 2; range, 1-7). The significant clinical features in cases versus controls included prolonged duration of symptoms of >6 months (21% vs. 7%; P < 0.001), poor visual acuity at presentation (74% vs. 64%; P = 0.05), buphthalmos (16% vs. 7%; P = 0.005), secondary glaucoma (47% vs. 15%; P < 0.001), iris neovascularization (46% vs. 22%; P < 0.001), ectropion uveae (39% vs. 14%; P < 0.001), and orbital cellulitis (3% vs. <1%; P = 0.05). On the basis of International Classification of Intraocular Retinoblastoma, group E tumor had a statistically significant higher incidence of high-risk retinoblastoma compared with controls (39% vs. 16%; P = 0.01). Multivariate analysis of clinical features at presentation that predicted high-risk features on histopathology included prolonged duration of symptoms of >6 months (P = 0.008) and secondary glaucoma (P = 0.021). In this study, the clinical features at presentation predictive of high-risk features on histopathology included prolonged duration of symptoms of >6 months and secondary glaucoma. Globe-preserving methods of treatment should be used with caution in patients with these features.

Congenital iris ectropion uveae presenting with glaucoma in infancy

A healthy 5-month-old boy presented with a sporadic unilateral right-sided sectorial ectropion uveae, anterior insertion of the iris root, increased IOP, and glaucomatous disk changes. The absence of other additional ocular anomalies and the appearance of the angle led to a diagnosis of congenital iris ectropion syndrome. IOPs became refractory to maximal topical therapy, and trabeculotomy surgery was performed. The patient has since been stabilized on topical agents.

Unilateral persistent fetal vasculature coexisting with anterior segment dysgenesis

Persistent fetal vasculature (PFV) is a common congenital developmental anomaly of the eye which results from failure of the embryological primary vitreous and hyaloid vasculature to regress by the time of birth (Int Ophthalmol Clin 48: 53-62, 2008). Typically, it is divided into anterior, posterior or combined types and is characterized by the presence of a vascular stalk located between the optic disc and the posterior lens capsule (Int Ophthalmol Clin 48: 53-62, 2008). Although it has been reported to manifest itself differently, in our case it presented in a microphthalmic eye as anterior segment dysgenesis with broad-based mid-peripheral synechiae, posterior embryotoxon, iridoschisis, ectropion uveae, hypotony and subluxated cataractous lens with a taut anterior hyaloid face which are rare associations with PFV.

Congenital ectropion uveae presenting as acute glaucoma in a 3-year-old child

Congenital ectropion uveae is a rare anomaly commonly associated with neurofibromatosis and occasionally with other ocular abnormalities. Glaucoma related with this condition may be present in infancy, or may develop later in life, and is thought to be due to an associated angle dysgenesis. Diagnosis is frequently delayed due to the subtle signs and the absence of symptoms and management is primarily surgical. We report an unusual case of unilateral congenital ectropion uveae in a 3-year-old child, with no evidence of neurofibromatosis, presenting as acute glaucoma, which was successfully managed by topical treatment only, avoiding surgical intervention.

Iris Nevus Growth into Melanoma: Analysis of 1611 Consecutive Eyes: The ABCDEF Guide

To determine clinical features predictive of growth of iris nevus into melanoma. Retrospective, comparative case series. A total of 1611 consecutive patients referred to an ocular oncology center with iris nevus. Observation and photographic documentation. Growth into melanoma. The mean age at referral for iris nevus was 51 years (median, 54; range, <1-94 years). At presentation, the mean tumor basal diameter was 3 mm (median, 3 mm; range, <1-12 mm) and mean tumor thickness was 0.8 mm (median, 0.5 mm; range, 0-5 mm). All patients were initially diagnosed with benign iris nevus. Growth of iris nevus to melanoma was confirmed in 2% of eyes (n = 27) over a mean follow-up of 68 months (median, 46 months; range, 3-465 months). By Kaplan-Meier estimates, iris nevus growth to melanoma occurred in <1%, 3%, 4%, 8%, and 11% at 1, 5, 10, 15, and 20 years, respectively. Factors predictive of iris nevus growth to melanoma by multivariable analysis included age ≤ 40 years at presentation (hazard ratio [HR], 3), episode of hyphema (HR, 9), 4:00 to 9:00 clock hour location of tumor (HR, 9), diffuse tumor (involving entire iris surface) (HR, 14), ectropion uveae (HR, 4), and feathery tumor margins (HR, 3). Additional important factors by univariable analysis included tumor seeding on the iris or in the anterior chamber angle, feeder vessels, and nodule formation. These factors can be remembered using the mnemonic ABCDEF, representing A = age young, B = blood, C = clock hour inferior, D = diffuse, E = ectropion, and F = feathery margin. In an analysis of 1611 cases of iris nevus referred for evaluation at an ocular oncology center, growth into melanoma occurred in 8% by 15 years. Risk factors for growth, identified by ABCDEF included Age young, Blood (hyphema), Clock hour inferior, Diffuse configuration, Ectropion uveae, and Feathery tumor margin.

Congenital Ectropion Uvea and Mechanisms of Glaucoma in Neurofibromatosis Type 1:: New Insights

To describe the clinicopathologic features of congenital ectropion uvea associated with glaucoma in neurofibromatosis-1 (NF-1). Retrospective case series. Five cases of NF-1 associated with glaucoma, from which enucleated eyes were available, and 2 eye bank eyes used as controls. The clinical features and courses of these patients were reviewed. Formalin-fixed, paraffin-embedded eyes were examined by light and electron microscopy. Immunohistochemistry using antineurofibromin, anti-glial fibrillary acidic protein, and antivimentin was performed in 3 patients. Gene expression of the mitogen-activated protein kinase (MAPK) signaling pathway was examined in corneal endothelial cells in 1 patient. Cause of glaucoma in patients with ectropion uvea and NF-1. The age of patients at the time of glaucoma diagnosis ranged from birth to 13 years. Four of the 5 patients had megalocornea and buphthalmos at presentation. Ectropion uvea was noted clinically in 2 patients, but was demonstrated histopathologically in all 5 patients. On histopathologic examination, all patients had varying degrees of angle closure secondary to endothelialization of the anterior chamber angle. Uveal neurofibromas were noted in all patients; anteriorly displaced ciliary processes were noted in 4 of 5 patients who demonstrated ciliary body involvement with neurofibromas. Absence of Schlemm's canal was observed. The endothelial cells lining the closed angle demonstrated positive stain results with the vimentin antibody. Positive antineurofibromin immunolabeling was detected in normal control corneal endothelium, but was absent in corneal endothelium in patients with endothelialization of the angle. Upregulation of genes from the MAPK signaling pathway was demonstrated in the corneal endothelial cells isolated from the NF-1 eyes. Ectropion uvea in NF-1 glaucoma is secondary to endothelialization of the anterior chamber angle and is associated commonly with severe pediatric glaucoma in NF-1 patients. The endothelial cell proliferation may be related to overexpression of the Ras (Rat sarcoma)-MAPK genes in these eyes.

Familial Peripheral Keratopathy Without PAX6 Mutation

To describe the clinical features of a familial abnormality of the corneal stem cells and to investigate the role of PAX6 mutations in the affected family members. A family with multiple generations of peripheral keratopathy was evaluated. Because of the corneal phenotypic similarity to aniridia-related keratopathy, it was hypothesized that the affected patients might have a dominantly inherited mutation of PAX6 on chromosome 11. Commercial sequencing of germline DNA from 1 affected family member did not identify any PAX6 mutations in the exons or intron-exon boundary regions. Because the commercial analysis is not designed to identify PAX6 deletions, germline DNA was collected from 5 unaffected and 2 additional affected family members. DNA repeat markers in the region of PAX6 were analyzed to determine whether this chromosomal region segregates with the disease phenotype. Affected family members with this autosomal dominant peripheral corneal abnormality showed evidence of progressive corneal stem cell dysfunction. Several individuals demonstrated corectopia, and 1 individual had ectropion uvea but no other iris or ocular abnormalities associated with aniridia. Genotyping data of affected and unaffected family members demonstrated that the PAX6 region does not segregate with the disease phenotype. The features of this autosomal dominant abnormality show some similarity to aniridia, although the classic characteristics of severe iris hypoplasia and macular hypoplasia are absent. Mutational screening and genotyping could not conclusively clarify a role for PAX6 in this disease phenotype, suggesting that it is a distinct clinical and genetic disease entity, not a variant of aniridia.

Iris melanoma: Features and prognosis in 317 children and adults

To evaluate iris melanoma in children versus adults. Retrospective, nonrandomized clinical case series including all patients with a clinical diagnosis of iris melanoma managed at the Ocular Oncology Service at Wills Eye Institute over 40 years. Patients were divided into three age categories based on age at presentation: children (≤ 20 years), mid-adults (21-60 years), and older adults (>60 years). The clinical features, treatments, and outcomes were statistically analyzed based on patient age at presentation. The main outcome measures were melanoma features and related metastasis and death. Of 8,101 eyes with uveal melanoma, there were 317 (4%) with iris melanoma, including 24 (8%) children (≤ 20 years), 187 (59%) mid-adults (21-60 years), and 106 (33%) older adults (>60 years). There was no age-related difference in race, sex, tumor quadrant, thickness, pigmentation, associated corectopia, ectropion uveae, hyphema, or extraocular extension. Significant age-related differences were found with mean tumor basal diameter, tapioca appearance, mean intraocular pressure, secondary glaucoma, tumor seeding in angle, and mean number of clock hours of angle seeding. Multivariate analysis of factors predictive of metastasis included extraocular extension and high intraocular pressure. Factors predictive of death included increased tumor thickness and high intraocular pressure. There was no difference in metastasis or death by age group. Iris melanoma shows significant clinical differences in children versus adults, with smaller tumor size, less tumor seeding in angle, and lower incidence of secondary glaucoma. There was no significant difference in metastasis or death by age group.

Iris Neovascularization and Neovascular Glaucoma in Neurofibromatosis Type 1

To report the clinical findings and outcomes in 3 patients with neurofibromatosis 1 (NF1) and retinal vascular abnormalities that resulted in angle closure secondary to iris neovascularization and describe the histopathologic abnormalities in 1 case. Retrospective case series of patients with NF1 and angle closure due to iris neovascularization secondary to retinal vascular abnormalities. Histopathologic analysis of an enucleated eye in 1 case. Three children whose age ranged from 5 to 10 years at presentation, developed unilateral retinal vascular abnormalities that resulted in iris neovascularization and angle closure with a wide range of intraocular pressures. Two patients had retinal vasoproliferative lesions of which the affected eye became blind in 1 patient and the other retained useful vision after treatment with intracameral Bevacizumab, ablation of the retinal lesions, and surgical treatment of the neovascular glaucoma. The third patient underwent enucleation and had pathologic evidence of retinal ischemia. A variety of retinal vascular lesions occurring in NF1 are capable of producing iris neovascularization, ectropion uvea, and neovascular glaucoma. Although a spectrum of serious complications resulting in total vision loss can occur, retention of useful vision is possible, in some cases, with aggressive treatment of the retinal lesions and associated neovascular glaucoma. This report highlights the need for careful examination of the posterior segment with special attention to peripheral retinal vascular abnormalities or tumors in young patients with NF1.

Iridocorneal Endothelial Syndrome in a 16-Year-Old

We report iridocorneal endothelial syndrome in a male who presented at the age of 16 years with a 3-year history of complaints of blurred vision, altered pupillary shape, and monocular diplopia OD. The examination was notable for unilateral effacement of the iris architecture, stretch holes, corectopia, and localized ectropion uveae. Intraocular pressures were 41 mm Hg OD and 10 mm Hg OS. Gonioscopy revealed intermittent areas of broad synechiae anterior to Schwalbe's line alternating with a clinically normal appearance. The left eye and angle were unremarkable. Specular microscopy confirmed the presence of unilateral endothelial pleomorphism and polymegathism. To our knowledge, this is the earliest reported case of iridocorneal endothelial syndrome in a young man.

Characteristics of Anterior Uveal Melanocytomas in 17 Cases

To evaluate a case series of anterior uveal melanocytomas (AUMs) for their distinct clinical, histopathologic, and high-frequency ultrasound (UBM) characteristics. Retrospective single-center case series. Seventeen consecutive patients with AUMs. Retrospective review of patient, tumor, UBM, histopathologic, and follow-up characteristics. Follow-up data included change in visual acuity, growth, secondary glaucoma, extrascleral extension, or malignant transformation. Tumor, high-frequency ultrasound, histopathologic, and follow-up characteristics. Seventeen patients had a median follow-up of 20 months (range, 1-130). Tumor was darkly pigmented with nodular configuration in 100% of patients, irregular surface in 82% of patients, characteristic cobblestone surface appearance in 59% of patients, and feathery or fimbriated margins in 88% of patients. Intrinsic vascularity, ectropion uveae, episcleral sentinel vessel, sector cataract, or heterochromia was not seen. High-frequency ultrasound showed high (71%) or moderately high (12%) internal reflectivity in the majority of tumors. Thirteen tumors (76%) involved the iris, 47% of tumors were club-shaped, and 100% of tumors showed no intrinsic vascularity. Mean tumor thickness was 1 mm (standard deviation [SD] ± 0.5, median 0.9, range 0.3-2.1 mm). Mean largest basal dimension was 3.1 mm (SD ± 2.3, median 2.3, range 0.5-9.4 mm) (n=14). Three pathologic evaluations revealed plump polyhedral cells with abundant cytoplasm, small round to oval nuclei, inconspicuous nucleoli, and finely dispersed chromatin. Two tumors had extrascleral extension, 2 tumors were documented to grow, and 1 tumor caused medically controlled glaucoma. Anterior uveal melanocytomas are uncommon benign melanocytic tumors with characteristic clinical features. High-frequency ultrasound imaging offers excellent views of obscure posterior extent and allows precise tumor measurement and monitoring for growth. It is an invaluable adjunct to digital slit-lamp photography for evaluating tumor stability or growth. This study presents and correlates unique clinical, high-frequency ultrasound and histopathologic characteristics.

Congenital Aniridia Variant: Minimally Abnormal Irides with Severe Limbal Stem Cell Deficiency

To clinically and molecularly characterize a group of patients with progressive limbal stem cell deficiency (LSCD) due to aniridic keratopathy (AK), but with minimally affected irides. Retrospective case series. A total of 12 eyes of 6 patients who underwent keratolimbal allograft (KLAL) for AK in the absence of the classic stigmata of aniridia at the Cincinnati Eye Institute/University of Cincinnati between 2000 and 2007. Retrospective chart review. Ocular surface stability after KLAL and change in visual acuity. Subjects' mean age was 32.57 years, 66% were female, and mean follow-up was 64.4 months (range, 20-115 months). All patients presented with a decline in their vision secondary to LSCD. Average preoperative best-corrected visual acuity (BCVA) logarithm of the minimum angle of resolution (logMAR) was 1.4 (range, 0.10-2.8). All patients had minimally affected irides with subtle abnormal findings, including ectropion uveae and stromal atrophy. All patients developed severe LSCD and required KLAL. Average postoperative logMAR BCVA was 0.35 (range, 0.00-1.00). All ocular surfaces remained stable throughout the follow-up period. Family history consistent with autosomal dominant inheritance was positive in 4 of 6 patients. PAX6 genetic testing identified 2 pathologic mutations and 1 possible disease-causing variant. Aniridic keratopathy may present in the absence of other classic stigmata of aniridia and be associated with minimally affected irides. A subset of these patients has definitive mutations in PAX6 and once identified can be counseled appropriately. These patients respond well to KLAL and may therefore benefit from early detection.

Molecular Characterization of Newborn Glaucoma Including a Distinct Aniridic Phenotype

Purpose: To characterize the underlying genetic defect in otherwise healthy Saudi newborns with buphthalmos, including those with iris abnormalities.Methods: Prospective case series of affected Saudi Arabian probands who were referred for genetic counseling over a 4 year period. All had CYP1B1 sequencing. Selected patients with visible iris abnormalities had PAX6, FOXC1, and PITX2 sequencing. CYP1B1-negative patients had LTBP2 sequencing.Results: All 67 probands had corneal enlargement with variable haze/scarring evident to caregivers at birth; 46 had a family history of infantile or early childhood glaucoma. All families were consanguineous except for 6, 2 of which were endogamous. Eight probands had mild ectropion uveae with partial aniridia; 2 probands had thick scarred corneas that precluded careful iris examination. Homozygous or compound heterozygous CYP1B1 mutations were identified in 91% (61/67), including all 8 probands with ectopion uveae and partial aniridia. The common Saudi mutation p.G61E occurred in most cases (38 homozygous, 8 compound heterozygous). Four novel mutations were identified (p.N252K, p.V460E, p.S485F, p.N519D). No mutations were identified in the other screened genes.Conclusions: Newborn glaucoma on the Arabian Peninsula is typically CYP1B1-related even in the setting of developmental iris abnormality. Mild iris ectropion with partial aniridia in a newborn with glaucoma suggests mutations in CYP1B1 rather than in other genes associated with anterior segment dysgenesis. On the Arabian Peninsula p.G61E mutations are the major cause of newborn glaucoma but novel CYP1B1 mutations continue to be documented. The fact that the 9% of cases that were CYP1B1-negative did not have mutations in LTBP2 suggests that there exists at least 1 additional locus for this condition.

Congenital ectropion uveae with iris coloboma and telecanthus

Congenital ectropion uveae (CEU) is a rare, non progressive anomaly characterised by the presence of iris pigment epithelium on the anterior surface and is frequently associated with anterior iris insertion, dysgenesis of the drainage angle and glaucoma. This paper describes an unusual case of bilateral congenital ectropion uveae with iris coloboma and telecanthus. The anterior chamber angle was normal and there was no evidence of glaucoma. To the best of our knowledge, this association has not been reported previously.

Medical and Surgical Treatment of Neovascular Glaucoma

Neovascular glaucoma (NVG) is an aggressive type of glaucoma, which often results in poor visual outcomes. Most NVG patients have severe underlying systemic and ocular pathology which causes NVG as a late presentation of their primary systemic and/or ocular disease. This makes NVG very difficult to treat. The key to adequate treatment of this devastating ocular disease is an understanding of its pathogenesis, which has recently been better elucidated. Weiss and colleagues first proposed the term “neovascular glaucoma” in 1963, when they described a severe glaucoma associated with the presence of new iris and angle vessels. (1) These patients present with elevated intraocular pressure (IOP) and neovascularization of the iris and angle, often with hyphema and other ocular findings, such as ectropion uveae (Figure 1). The myriad medical conditions resulting in NVG all lead to a final common pathway of profound retinal ischemia. This ischemia induces retinal production of vasoproliferative factors, including vascular endothelial growth factor (VEGF), which diffuse anteriorly and lead to anterior segment neovascularization of the iris (NVI) and neovascularization of the angle (NVA). Patients with NVI and NVA may have normal IOP in the early stages. If left untreated, the fibrovascular scaffolding of these vessels cross the angle and IOP becomes markedly elevated, though the angle may still be gonioscopically open. Ultimately, in the absence of definitive treatment, these fibrovascular membranes contract and produce synechial angle closure and ectropion uveae with intractable elevation of IOP and damage to the optic nerve with subsequent vision loss. Open in a separate window Figure 1 NVG with florid NVI and ectropion uveae

Late-Onset Endophthalmitis Secondary to Exposed Glaucoma Tube Implant in a Rare Case of Paediatric Glaucoma

Glaucoma drainage implants (GDIs) are used to treat paediatric glaucoma resistant to conventional medical and surgical treatment, achieving good intraocular pressure (IOP) control and long-term success. Late endophthalmitis is a rare complication that may develop following GDI surgery. A 17-year-old male presented with acute endophthalmitis 2 years after Ahmed glaucoma valve implantation with pericardial patch graft for management of refractory glaucoma secondary to congenital ectropion uveae. The glaucoma tube was exposed due to erosion of the overlying conjunctiva with no visible pericardial graft. After control of active infection, he underwent tube revision surgery whereby the exposed tube was retained and repatched with a double-thickness pericardial patch graft. He did well following surgery with good control of IOP and restoration of vision. Conjunctival dehiscence with graft melting over the GDI tube presented a major risk factor for endophthalmitis. Prompt surgical revision of an exposed tube is highly recommended to avoid ocular morbidity.