Acute Hydrops in the Fellow Eye of Infants with Primary Congenital Glaucoma after Intraocular Pressure Reduction in 1 Eye.

PURPOSE: To demonstrate the occurrence of acute hydrops in the fellow eye of infants with primary congenital glaucoma (PCG) treated for glaucoma in 1 eye. DESIGN: Small, observational case series. PARTICIPANTS: Three infants with PCG who demonstrated acute hydrops in the fellow eye after treatment of the worse eye. METHODS: Intraocular pressure (IOP) was lowered surgically in 2 infants and medically in 1 infant with PCG. Two infants underwent combined trabeculotomy with trabeculectomy, and goniotomy was possible in 1 infant. MAIN OUTCOME MEASURES: Observation of the fellow eye after lowering IOP in an eye with acute hydrops. RESULTS: Two infants underwent glaucoma surgery in 1 eye and demonstrated acute hydrops in the fellow eye within 1 week. The third infant demonstrated acute hydrops after medically controlling IOP in 1 eye before the scheduled surgery. After surgical treatment, the stromal edema cleared completely in all 3 infants, leaving behind a small area of opacity where the Descemet's tear had healed. CONCLUSIONS: Our report demonstrates that the fellow eye of a patient with PCG may be at risk of sudden raised IOP resulting in acute hydrops, and early treatment may help to prevent this phenomenon in the fellow eye.

Congenital choroidal melanocytoma in a child with ocular melanocytosis.

A 1-day-old child was brought to the clinic for evaluation of enlarged right eye (OD). On examination, OD showed buphthalmos with diffuse scleral melanocytosis, fleshy blackish-brown extrascleral mass with corneal extension, and secondary glaucoma. Anterior segment evaluation revealed darkly pigmented iris and fundus evaluation OD revealed a darkly pigmented choroidal lesion. The left eye was within normal limits. A clinical diagnosis of choroidal melanocytoma with ocular melanocytosis was made. Enucleation OD followed by orbital implant was performed. Histopathology showed features of diffuse ocular melanocytosis involving limbus, iris, ciliary body, choroid, sclera, optic nerve head, optic nerve sheath, along with choroidal melanocytoma with extrascleral tumour extension. We presume that choroidal melanocytoma may have arisen from ocular melanocytosis.

Secondary Congenital Glaucoma Associated With Retro-orbital Infantile Hemangioma: A Masquerade Syndrome.

PURPOSE: The main purpose of this study was to describe a unique case of retro-orbital infantile hemangioma (IH) simulating a congenital glaucoma requiring prompt management with systemic propranolol. STUDY DESIGN: This was a case report. RESULTS: A 2-month-old white female was referred to our department of ophthalmology for progressive, unilateral protrusion of the left eye associated with epiphora. Clinical examination was suggestive of congenital glaucoma, as evidenced by high intraocular pressure, optic disc cup, increased corneal diameter, and axial length. The left eye proptosis was measured at 4 mm with the Hertel exophthalmometer. Cycloplegic refraction discloses high degree of astigmatism in the left eye. A cerebral and orbital magnetic resonance imaging revealed an intraconal vascular mass evocative of orbital IH.Oral propranolol was initiated and resulted in a rapid radiologic reduction of the IH. Concomitantly, the notable finding was the reversal of congenital glaucoma parameters without the need of surgery. CONCLUSIONS: To the best of our knowledge, this is the first observation of a secondary congenital glaucoma reversal with oral propranolol used for orbital IH management.

Adult-onset Buphthalmos in Down Syndrome.

PURPOSE: To report a peculiar case of adult-onset buphthalmos. METHODS: Review of the medical record of a 24-year-old patient with Down syndrome who developed buphthalmos in the left eye after corneal transplantation for keratoconus. RESULTS: In the next 2 years after surgery, the operated eye evolved with chronic anterior uveitis that led to progressive peripheral synechiae, oscillating intraocular pressure, cataract, graft failure, and buphthalmos. CONCLUSIONS: The finding of buphthalmos of adult-onset in Down syndrome raises important issues concerning the classification of this eye condition and the responsibility for detecting and monitoring eyes with glaucoma in individuals with chromosome 21 trisomy.

Hypohidrotic Ectodermal Dysplasia: A Rare Disorder With Bilateral Infantile Glaucoma.

Ectodermal dysplasia (ED) is a disorder that occurs due to abnormalities of ectodermal structures such as skin, teeth, hair, nails, and eccrine glands. Approximately 200 different conditions have been identified as ED, the most common being hypohidrotic ED. It is characterized by hypotrichosis (sparse scalp or body hair), hypodontia (absent or malformed teeth), and hypohidrosis (reduced ability to sweat). It is also associated with distinctive facial features, such as the prominent forehead, thick lips, flattened nasal bridge, and thin wrinkled skin. Ocular anomalies are less frequently observed, the most common ones being dysplasia of the lacrimal gland or meibomian gland that leads to dry eye and variable corneal involvement. We report a case of a 9-year-old child of hypohidrotic ED presenting with bilateral infantile glaucoma managed by the implantation of glaucoma drainage devices (GDDs) after a failed trabeculotomy and trabeculectomy in both eyes.

Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma.

PURPOSE: To report on the use of endoscopic cyclophotocoagulation (ECP) to treat congenital glaucoma in a triple X female with microphthalmia, dermal aplasia, and sclerocornea (MIDAS) syndrome. OBSERVATIONS: The patient demonstrated linear streaks on the face and neck consistent with dermal aplasia. The corneas were scleralized with ectatic areas of corneal thinning, and the eyes were microphthalmic. Ultrasound biomicroscopy demonstrated congenital aphakia and iris stumps. The patient had elevated intraocular pressure (IOP) that responded to topical glaucoma therapy in the right but not the left eye. Intraoperative endoscopy of the posterior segment revealed multiple hypopigmented chorioretinal lacunae surrounding a pale, cupped optic nerve. ECP of the ciliary processes in the left eye led to marked improvement in IOP. CONCLUSIONS AND IMPORTANCE: Patients with MIDAS syndrome can develop congenital glaucoma secondary to angle dysgenesis. This is the first case report to demonstrate the safe and effective use of ECP to treat elevated IOP in a patient with MIDAS.

Comparison of EX-PRESS Shunt and Trabeculectomy With Mitomycin-C in Congenital and Juvenile Glaucoma.

PURPOSE: To compare efficacy and safety of EX-PRESS mini glaucoma shunt (Alcon) and trabeculectomy with mitomycin-C (MMC) in the management of pediatric glaucoma. METHODS: The authors retrospectively reviewed patients from a single pediatric ophthalmology practice with either congenital or juvenile glaucoma who underwent surgical treatment with either trabeculectomy or EX-PRESS shunt insertion with MMC. Postoperative intraocular pressure at 6, 18, and 36 months, medication requirements, visual acuities, postoperative interventions, complications, and noncompliance with medications or follow-up was reviewed. RESULTS: A total of 42 cases of glaucoma with either trabeculectomy or EX-PRESS shunt were identified for review (n trabeculectomy=25, n EX-PRESS=17). At 6 months, 62.5% of trabeculectomies and 94.1% of EX-PRESS shunts met criteria for success (P=0.0281). At 18 months, 38.1% of trabeculectomies and 81.3% of EX-PRESS shunts met criteria for success (P=0.0178). At 36 months, trabeculectomies had a success rate of 33.3% versus 66.7% for EX-PRESS shunts (P=0.321). The average decrease in medications postoperatively was 0.375 and 1.63 for trabeculectomy and EX-PRESS shunt, respectively (P=0.06). Preoperative visual acuities compared with postoperative best-corrected visual acuities before additional surgery demonstrated a slight average worsening of 0.11 logMAR in trabeculectomy patients and an average improvement of 0.56 logMAR in EX-PRESS shunt patients (P=0.0037). CONCLUSIONS: In this review, patients with pediatric glaucoma managed with EX-PRESS shunt with MMC compared with trabeculectomy with MMC appear to have better intraocular pressure control, better visual acuities, and fewer complications and reoperations.

Congenital Glaucoma and CHARGE Syndrome: A Case Report.

PURPOSE: To report a rare case of congenital glaucoma in a patient with CHARGE syndrome, present gonioscopic photographs, and explore mechanisms of disease that may account for this association. PATIENTS AND METHODS: We describe a 35-week-old girl with previously diagnosed CHARGE syndrome who presented with corneal edema, buphthalmos, and elevated intraocular pressure in the left eye. She was subsequently diagnosed with congenital glaucoma and started on topical and oral therapy. RESULTS: Examination under anesthesia confirmed the above findings as well as bilateral abnormal angles with an anterior iris insertion at the level of the posterior trabecular meshwork, prominent iris vasculature and stromal strands, and nonvisible scleral spur and ciliary body bands. Trabeculotomy and trabeculectomy were performed in the left eye with a poor outcome. CHARGE syndrome is a complex neurocristopathy, and we propose that the abnormal angle findings and associated asymmetric glaucoma in our patient share a common mechanism of neural crest cell dysfunction. CONCLUSIONS: CHARGE syndrome can be associated with congenital glaucoma and we emphasize the importance of a thorough ophthalmic examination to detect glaucoma with surgical management as deemed appropriate.

Manifestações oftalmológicas de Síndrome de Klippel Trenaunay / Ophthalmological manifestation of the Klippel Trenaunay Syndrome

RESUMO A Síndrome de Klippel-Trenaunay (SKT) é uma doença congênita rara, com maior prevalência no sexo masculino e incidência de 2-5:100.000. Apresenta-se, na forma clássica, como a tríade de manchas vinho porto, hipertrofia de membros e malformação venosa e/ou linfática. O diagnóstico é essencialmente clínico e devido à complexidade da síndrome, de natureza progressiva e ampla variedade de apresentações clínicas, os pacientes devem ser tratados de forma individualizada por uma equipe multidisciplinar. Alterações oftalmológicas associadas à SKT incluem anormalidades vasculares da órbita, íris, retina, coroide e nervo óptico. Relato de caso: Paciente de 23 anos, sexo feminino, portadora de SKT, em acompanhamento no Centro da Visão - Universidade Federal do Paraná, com queixa de diminuição da acuidade visual em olho direito. A paciente apresentava manchas vinho porto em dimidio direito e hipertrofia de membros ipsilateral. Foi diagnosticado glaucoma e realizados exames complementares oftalmológicos a fim de avaliar o grau de comprometimento dos campos visuais e o fundo de olho. A visão com a melhor correção foi de 20/100 OD e foi de 20/20 OE. À fundoscopia, constatou-se aumento da escavação do nervo óptico à direita - 0,75 x 0,90 mm. Optou-se por tratamento clínico com Cloridrato de Dorzolamida, Latanoprosta, Brimonidina e Timolol, com bons resultados a longo prazo - a tonometria de aplanação mostrou 19 mmHg OD e 15 mmHg OE, apesar da dificuldade na estabilização da doença. Conclusão: Relatos demonstram que os resultados dos tratamentos clínico e cirúrgico do glaucoma em associação à SKT são insatisfatórios quando comparados a outros tipos de glaucoma - o controle clínico não é possível em cerca de 1/3 dos pacientes, e o manejo cirúrgico tem alto índice de complicações. São necessários estudos mais expressivos que estabeleçam a correlação entre glaucoma e SKT e embasem o tratamento de escolha.

ABSTRACT The Klippel-Trenaunay Syndrome (KTS) is a rare congenital disease, which the prevalence is higher in males, and its incidence of 25:100,000. It is presented in its classic form as the triad of port-wine stains, enlarged limbs and venous and / or lymphatic malformation. The diagnosis is essentially clinical and due to the complexity of the syndrome, the progressive characteristic and the wide variety of clinical presentations, a multidisciplinary team should treat patients individually. The ocular changes associated with KTS include vascular, orbit, iris, retina, choroid and optic nerve abnormalities. Case report: A 23-year-old female patient, carrier KTS, being followed at Vision Center - Federal University of Paraná, complaining of decreased visual acuity in the right eye. The patient had port-wine stains in right hemibody and hypertrophy of ipsilateral members. Glaucoma was diagnosed and eye exams were performed to assess the degree of impairment of visual fields and fundus. The best correction was checked at 20/100 OD and 20/20 OS. At fundoscopy, there was increased excavation of the optic nerve right - 0.75 x 0.90 mm. Clinical treatment was chosen with Dorzolamide Hydrochloride, Latanoprost, Brimonidine and Timolol, presenting good long-term results - the tonometry showed 19 mmHg OD and 15 mmHg OS, despite the difficulty in stabilizing the disease. Conclusion: Reports have shown that the results of clinical and surgical treatments of glaucoma in association with KTS are unsatisfactory compared to other types of glaucoma - clinical control is not possible in about 1/ 3 of patients and the surgical management has a high rate of complications. Significant studies are needed to establish the correlation between glaucoma and KTS, and base the treatment of choice.

Primary Congenital Glaucoma Versus Glaucoma Following Congenital Cataract Surgery: Comparative Clinical Features and Long-term Outcomes.

PURPOSE: To report and compare visual and glaucoma outcomes in primary congenital glaucoma (PCG) vs glaucoma following congenital cataract surgery (GFCS). DESIGN: Retrospective, observational, comparative case series. METHODS: Setting: Emory Eye Center, Atlanta, Georgia. STUDY POPULATION: Pediatric glaucoma patients (age 0-18 years) treated at Emory by 1 clinician with ≥2-year follow-up. Glaucoma was defined according to the 9th Consensus Report of the World Glaucoma Association. MAIN OUTCOME MEASURES: Snellen-equivalent logMAR visual acuity (VA) and glaucoma control (IOP ≤21, no devastating complications, no recommendation for further glaucoma surgery). Asymptotic Wilcoxon-Mann-Whitney rank sum tests were employed to compare glaucoma subgroups. RESULTS: Included were 72 PCG and 56 GFCS cases, with mean follow-up time of 7.4 ± 4.1 and 8.0 ± 3.8 years, respectively. At last follow-up, PCG showed better median VA than GFCS in worse-seeing eyes (20/60 [interquartile range (IQR) 20/30-20/200] vs 20/400 [IQR 20/70-hand motion], respectively, P < .0001) and in better-seeing eyes of bilaterally-affected children (20/30 [IQR 20/20-20/60] vs 20/70 [IQR 20/35-20/100], respectively, P = .024).The following variables characterized the PCG and GFCS groups' glaucoma status, respectively: mean age at diagnosis (years), 0.70 ± 1.3 vs 3.3 ± 3.5 (P < .0001); median IOP (mm Hg), 15.50 [IQR 12.1-19.4] vs 17.50 [IQR 14.9-22], P = .037; median number of glaucoma medications at last follow-up, 1.49 [IQR 0-2] vs 2.54 [IQR 1-4], P < .0001; median number of glaucoma surgeries, 1.0 [IQR 1-2] vs 1.25 [IQR 0.5-2.0], P = .09. CONCLUSIONS: Children with PCG (vs those with GFCS) presented earlier, had better vision, required fewer medications to control disease, and had lower IOP at last follow-up.

Infantile-onset glaucoma and anterior megalophthalmos in osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is an inherited condition in which defects in type 1 collagen cause abnormalities in many tissues and organs, including bone, teeth, heart valves, and eyes. We describe a 6-month-old boy with OI who presented with anterior megalophthalmos of the right eye and infantile-onset glaucoma of the left eye. To our knowledge, this is the first reported case of these types of congenital eye anomalies in an infant with OI.

Newborn Glaucoma with Imperforate Pupil.

PURPOSE: This case report describes the surgical technique of trabeculectomy, mechanical separation of the iris from the cornea, and creation of a pupillary aperture by an automated vitrector in a child with newborn glaucoma with imperforate pupil. CASE REPORT: A 1-month-old child was referred to us with the diagnosis of congenital glaucoma of the left eye. Examination under anesthesia revealed megalocornea (corneal diameter, 12 mm) with corneal edema of the left eye whereas the right eye was normal. Intraocular pressure was 8 and 26 mm Hg in the right eye and left eye, respectively. Examination under anesthesia revealed imperforate pupil with uveal tissue attached on the back surface of the left cornea whereas the iris and the pupil of the right eye were normal. A diagnosis of newborn glaucoma and imperforate pupil of the left eye was made and the child underwent trabeculectomy, mechanical separation of the iris from the back surface of the cornea, and creation of pupillary aperture by an automated vitrector. The child had an uneventful postoperative course with disappearance of corneal edema, but there were several linear scars across the cornea. The child completed 3 years of follow-up and his best spectacle corrected visual acuity in the left eye was 20/32 and the intraocular pressure was 10 mm Hg in both eyes. CONCLUSIONS: The surgical technique was safe and effective in the restoration of corneal clarity and creation of the pupillary aperture with good visual recovery.

Congenital glaucoma with acquired peripheral circumferential iris degeneration.

Iris anomalies associated with congenital or early-childhood glaucoma include stable primary developmental abnormalities such as those associated with the Axenfeld-Rieger spectrum and aniridia. Secondary generalized iris atrophy from uncontrolled intraocular pressure is another potential iris finding in pediatric glaucoma. We document an unusual pattern of acquired peripheral circumferential iris degeneration in 2 unrelated children with otherwise-controlled congenital glaucoma. Genetic testing revealed a common homozygous CYP1B1 mutation in one (p.Gly61Glu) and a novel heterozygous FOXC1 deletion in the other (p.Tyr81_Pro95del).

Infantile bilateral glaucoma in a child with ectodermal dysplasia.

Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.

Buphthalmos development in adult: case report / Buftalmus em adulto: relato de caso

To report a case of extensive globe enlargement due to secondary glaucoma in a young adult suffering from ocular surface disorders related to hypohidrotic ectodermal dysplasia. To the best of our knowledge, this is the first report of buphthalmos in the adulthood.

Relato de caso do aumento extenso do globo ocular decorrente de glaucoma secundário e disfunção de superfície ocular em um paciente adulto jovem portador de displasia ectodérmica anidrótica. Primeiro relato de caso de buftalmo em adulto.

Buphthalmos development in adult: case report.

To report a case of extensive globe enlargement due to secondary glaucoma in a young adult suffering from ocular surface disorders related to hypohidrotic ectodermal dysplasia. To the best of our knowledge, this is the first report of buphthalmos in the adulthood.

Uveal melanoma in a 19-month-old child.

Uveal melanoma is extremely rare in children. Its clinical and histopathological features have been reported to be similar to those observed in adults. The tumor usually presents as a sessile or dome-shaped mass with secondary nonrhegmatogenous retinal detachment. We report a 19-month-old boy with a choroidal melanoma presenting as hemorrhagic retinal detachment and buphthalmos. The eye was enucleated, but the child subsequently died from systemic metastases.