Bilateral Congenital Glaucoma Research Articles

Bag-in-the-lens intraocular lens implantation before 12 weeks of age in congenital cataract.

The aim of this study was to evaluate the intra- and postoperative complications, especially the risk of visual axis opacification (VAO), following the implantation of the bag-in-the-lens (BIL) intraocular lens (IOL) in infants with congenital cataract operated on before 12 weeks of age. Infants operated on before 12 weeks of age between June 2020 and June 2021 with a follow-up longer than 1year were included in the present retrospective study. This was a first-experience cohort of an experienced paediatric cataract surgeon with this type of lens. Nine infants (13 eyes) with a median age at surgery of 28 days (range, 21-49 days) were included. The median follow-up time was 21.6months (range, 12.2-23.4months). The lens was correctly implanted with the anterior and posterior capsulorhexis edges placed into the interhaptic groove of the BIL IOL in seven of 13 eyes; none of these eyes developed VAO. In the remaining six eyes, the IOL was only fixated to the anterior capsulorhexis edge, and in these cases, an anatomical anomaly of the posterior capsule and/or anterior vitreolenticular interface dysgenesis were observed. These six eyes developed VAO. One eye had a partial iris capture in the early postoperative phase. Otherwise, the IOL remained well centred and stable in all eyes. Anterior vitrectomy was necessary in seven eyes due to vitreous prolapse. One patient with unilateral cataract was diagnosed with bilateral primary congenital glaucoma at 4months of age. Implantation of the BIL IOL is safe even in the youngest age group less than 12 weeks of age. Although being a first-experience cohort, the BIL technique is shown to reduce the risk of VAO and the number of surgical procedures.

Association of transforming growth factor beta induced mutations with congenital and juvenile onset open angle glaucoma

AbstractPurpose: To investigate the molecular basis of congenital glaucoma in a family with GAPO (growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy) syndrome.Methods: We report ocular features of three girls with GAPO syndrome born of consanguineous marriage in a multi‐ generation consanguineous family. The proband (4 year old girl) and her younger sibling (1 year old girl) were operated for bilateral congenital glaucoma in both eyes. The elder sibling (10 year old female) had features of GAPO syndrome but did not manifest features of glaucoma.Results: A genetic evaluation using whole exome sequencing revealed a homozygous ANTXR1 mutation in all 3 affected siblings with GAPO. No other mutations were detected in the genes associated with glaucoma. A rare missense mutation in Transforming Growth Factor Beta Induced (TGFBI) gene was shared in the two siblings with congenital glaucoma and GAPO syndrome. We then looked for the presence of TGFBI gene mutations in another cohort of 54 unrelated patients with early onset glaucoma (before 25 years of age) in whom Whole exome sequencing was previously done and no known glaucoma mutations were detected. We found three TGFBI mutations present in three unrelated juvenile onset open angle glaucoma (JOAG) patients, one of whom also had an associated corneal granular dystrophy. None of these patients had any other mutations associated with known genes for glaucoma.Conclusions: Mutations in TGFBI gene could have a role in the pathogenesis of congenital and juvenile onset open angle glaucoma.

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.

Severe Congenital Corneal Opacities

A one-year-old baby girl was referred to our center from Iraq with bilateral congenital corneal opacities and glaucoma. She was born full-term, to consanguineous parents with no perinatal complications. Previous workup including chest radiology, electrolytes and TORCH titers were negative. Mother reported that the child had navigational vision. Examination showed bilateral buphthalmos, and white elevated large thick vascularized corneal opacities. There was no view to the anterior chamber or to the fundus.

Lens coloboma secondary to neglected buphthalmos

A 36-year-old male presented with progressive diminution of vision OS for 3 months. He was a known case of bilateral congenital glaucoma who underwent trabeculectomy at 6 months and 5 years of age OD and OS respectively. Best corrected visual acuity was 6/24 OD and 1/60 OS. Slit lamp examination revealed bilateral Haab striae (Figure 1a) with lens subluxation OS evident by the scalloped border of the lens with broken zonules in the superonasal quadrant and lens coloboma in the inferonasal quadrant with the absence of zonules (Figure 1b,c,d). A posterior subcapsular cataract was also noted OS. Advanced glaucomatous optic nerve cupping was noted OU. An intraocular pressure of 10 mm Hg OD and 16 mm Hg OS was noted. Biometry documented an axial length of 26.30 mm OD and 28.75 mm OS with a keratometry of 42.50D/46.50D @20˚/110˚OD and 37.75D/40.00D @ 45˚/135˚OS. Ultrasound bio-microscopy depicted increased sphericity of the lens with broken zonules OS (Figure 1e).

Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma.

Purpose:To report the association of procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 (PLOD2) mutations with bilateral primary congenital glaucoma (PCG) in monozygotic twins and with nondominant juvenile-onset primary open-angle glaucoma (JOAG).Methods:We utilized family-based whole-exome sequencing to detect disease-causing mutations in a pair of monozygotic twins with de-novo PCG and compared its existence in 50 nonfamilial cases of JOAG and 30 healthy controls. To validate the identified mutations, direct Sanger sequencing was performed. For further evaluation of gene expression in the ocular tissues, we performed whole-mount in situ hybridization in zebrafish embryos.Results:We identified a novel missense mutation (c.1925A>G, p.Tyr642Cys) in the PLOD2 gene in the monozygotic twin pair with PCG and another missense mutation (c.1880G>A, p.Arg627Gln) in one JOAG patient. Both mutations identified were heterozygous. Neither the parents of the twins nor the parents of the JOAG patient harbored the mutation and it was probably a de-novo change. The zebrafish in situ hybridization revealed expression of the PLOD2 gene during embryogenesis of the eye.Conclusion:We observed an association of PLOD2 mutations with PCG and with nonfamilial JOAG. This new gene needs to be further investigated for its role in pathways associated with glaucoma pathogenesis.

Lowe syndrome – Old and new evidence of secondary mitochondrial dysfunction

The oculocerebrorenal syndrome of Lowe (LS) is a rare, progressive, multisystemic X-linked disorder caused by mutations in OCRL gene. Patients classically present with ocular abnormalities including bilateral congenital cataracts and glaucoma, intellectual delay, severe generalized hypotonia with absent tendon reflexes, and proximal renal tubular dysfunction. Congenital bilateral cataracts and hypotonia are present at birth in almost all patients, while other classical symptoms develop gradually with variable severity. Consequently, differential diagnosis in infant period in these patients can be broad including other rare metabolic and neurologic disorders.Herein we present a 4.5 year old boy with Lowe syndrome caused by mutation of OCRL gene, NM_000276.4:c.643C > T; p.(Gln215*), initially diagnosed as having mitochondriopathy due to alteration of mitochondria on electron microscopic examination in different tissues and decreased values of mitochondrial energy metabolism measurements in muscle. No pathogenic mutations in mitochondrial DNA were found on whole exome sequencing.This patient recall historical hypothesis of secondary mitochondrial dysfunction in Lowe syndrome, that may be caused/intensified by some of disease symptoms.

A Mitomycin C-Sparing Novel Technique for Subscleral Trabeculectomy in Primary Congenital Glaucoma.

Purpose To evaluate the safety and efficacy of a novel modified subscleral trabeculectomy technique in management of primary congenital glaucoma. Methods This study included 25 infants diagnosed of having bilateral primary congenital glaucoma. For each patient, one eye was assigned to undergo subscleral trabeculectomy with trimming of the edges of the scleral bed (group I), while the contralateral eye underwent subscleral trabeculectomy with application of mitomycin C (0.4 mg/ml for 3 min) (group II). All the patients were followed up for a period of 14 ± 3 months (range 13–22 months). Results 25 eyes were included in each group. Patients' mean age was 2.5 ± 0.5 months (range 1.8–6.5 months). The mean preoperative intraocular pressure was 31 ± 4.9 mmHg and 32.1 ± 4.0 mmHg in group I and II, respectively. The mean postoperative intraocular pressure was 9.0 ± 1.0, 11.0 ± 3.2, 12.5 ± 0.9, 13.0 ± 2.9, and 15.5 ± 1.5 mm Hg in group I and was 10.3 ± 1.2, 12.0 ± 2.5, 13.5 ± 1.7, 15.0 ± 1.5, and 17.1 ± 2.8 mm Hg in group II at the first week and 1, 3, 6, and 12 months, respectively. There was no statistically significant difference between the mean intraocular pressure values recorded at both groups preoperatively and at each follow-up visit. Failure necessitating further surgical interventions was recorded in 4 eyes (16%) in group I as compared to 3 eyes (12%) in group II (P > 0.05). Postoperative complications included mild hyphema, which occurred in one eye (4%) in group I and 2 eyes (8%) in group II, and shallow anterior chamber in 3 eyes (12%) in group I and in 2 eyes (8%) in group II. One eye (4%) in group I developed drawn-up pupil. Choroidal effusion developed in one eye (4%) at each group. Conclusion Trimming the edges of the scleral bed adjacent to the sclera flap is a safe and effective surgical step which can be added to the subscleral trabeculectomy procedure to effectively control the intraocular pressure in patients with primary congenital glaucoma, sparing them the hazards associated with mitomycin C application.

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.

Extended clinical features associated with novel Glis3 mutation: a case report

BackgroundMutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, craniosynostosis and pancreatic exocrine insufficiency.Case presentationWe report a new case for consanguineous parents with homozygous novel mutation in GLIS3 gene who presented with neonatal diabetes mellitus, severe resistant congenital hypothyroidism, cholestatic liver disease, bilateral congenital glaucoma and facial dysmorphism. There were associated abnormalities in the external genitalia in form of bifid scrotum, bilateral undescended testicles, microphallus and scrotal hypospadias which might be a coincidental finding.ConclusionsWe suggest that infants with neonatal diabetes associated with dysmorphism should be screened for GLIS3 gene mutations.

Loss of OCRL increases ciliary PI(4,5)P2 in Lowe oculocerebrorenal syndrome.

Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular dysfunction. Mutations in OCRL, an inositol polyphosphate 5-phosphatase that dephosphorylates PI(4,5)P2, cause Lowe syndrome. Previously we showed that OCRL localizes to the primary cilium, which has a distinct membrane phospholipid composition, but disruption of phosphoinositides in the ciliary membrane is poorly understood. Here, we demonstrate that cilia from Lowe syndrome patient fibroblasts exhibit increased levels of PI(4,5)P2 and decreased levels of PI4P. In particular, subcellular distribution of PI(4,5)P2 build-up was observed at the transition zone. Accumulation of ciliary PI(4,5)P2 was pronounced in mouse embryonic fibroblasts (MEFs) derived from Lowe syndrome mouse model as well as in Ocrl-null MEFs, which was reversed by reintroduction of OCRL. Similarly, expression of wild-type OCRL reversed the elevated PI(4,5)P2 in Lowe patient cells. Accumulation of sonic hedgehog protein in response to hedgehog agonist was decreased in MEFs derived from a Lowe syndrome mouse model. Together, our findings show for the first time an abnormality in ciliary phosphoinositides of both human and mouse cell models of Lowe syndrome.

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined as the complete absence or reduction in size of the eye. A/M is a highly heterogeneous disorder with SOX2 and FOXE3 playing major roles in dominant and recessive pedigrees, respectively; however, the majority of cases lack a genetic etiology. We analyzed 28 probands affected with A/M spectrum (without mutations in SOX2/FOXE3) by whole-exome sequencing. Analysis of 83 known A/M factors identified pathogenic/likely pathogenic variants in PAX6, OTX2 and NDP in three patients. A novel heterozygous likely pathogenic variant in PAX6, c.767T>C, p.(Val256Ala), was identified in two brothers with bilateral microphthalmia, coloboma, primary aphakia, iris hypoplasia, sclerocornea and congenital glaucoma; the unaffected mother appears to be a mosaic carrier. While A/M has been reported as a rare feature, this is the first report of congenital primary aphakia in association with PAX6 and the identified allele represents the first variant in the PAX6 homeodomain to be associated with A/M. A novel pathogenic variant in OTX2, c.651delC, p.(Thr218Hisfs*76), in a patient with syndromic bilateral anophthalmia and a hemizygous pathogenic variant in NDP, c.293 C>T, p.(Pro98Leu), in two brothers with isolated bilateral microphthalmia and sclerocornea were also identified. Pathogenic/likely pathogenic variants were not discovered in the 25 remaining A/M cases. This study underscores the utility of whole-exome sequencing for identification of causative mutations in highly variable ocular phenotypes as well as the extreme genetic heterogeneity of A/M conditions.

Primary Congenital Glaucoma with Delayed Suprachoroidal Hemorrhage following Combined Trabeculotomy Trabeculectomy and 5-Fluorouracil.

Background. Delayed postoperative suprachoroidal hemorrhage (DSCH) may occur following intraocular surgery for the treatment of glaucoma. It is considered to be a rare and debilitating event if not managed appropriately. Reported herewith is a case of Primary Congenital Glaucoma followed by DSCH with successful immediate surgical intervention and visual restoration. Patient and Method. An 8-month-old male child had bilateral Primary Congenital Glaucoma (PCG). Combined Trabeculotomy Trabeculectomy with 5-Fluorouracil (5FU) was performed. He developed delayed suprachoroidal hemorrhage (DSCH) within 24 hours after intraocular surgery which was drained. In addition, he developed exposure keratopathy and left amblyopia. Outcome. Resolution of the DSCH was seen with surgical drainage in addition to treatments for exposure keratopathy and amblyopia. These resulted in reduced intraocular pressure and improved visual acuities. Conclusion. There appears to be a difference in the overall management of PCG and DSCH between adults and children. A high index of suspicion as well as emergency surgical treatment for DSCH and associated conditions should be performed on pediatric patients that present with these challenges.

Illuminated Microcatheter Circumferential Trabeculotomy Versus Combined Trabeculotomy-Trabeculectomy for Primary Congenital Glaucoma: A Randomized Controlled Trial

To compare outcomes of illuminated microcatheter-assisted circumferential trabeculotomy vs combined mitomycin C-augmented trabeculotomy-trabeculectomy for primary congenital glaucoma. Prospective, randomized trial. Of the 30 patients (60 eyes) analyzed with bilateral primary congenital glaucoma aged ≤2 years, 1 eye of each patient was randomized to: illuminated microcatheter-assisted trabeculotomy (Group I) or combined trabeculotomy with trabeculectomy augmented with mitomycin C (Group II). Primary outcome measure was intraocular pressure (IOP) reduction. Categorization into absolute success (IOP ≤15mm Hg without medication) and qualified success (IOP ≤15mm Hg with medication) was done. Secondary outcomes included change in corneal diameter and clarity, optic disc status, refraction, need for anti-glaucoma therapy, and occurrence of complications. Mean age of patients was 6.63 ± 5.74months. IOP fell by 49.3% (22.25 ± 10.88 to 11.56 ± 3.33mm Hg) in Group I and 46.6% in Group II (21.73 ± 8.89 to 11.60 ± 3.03mm Hg) (P < .001 in both). At 1 year, absolute success was achieved in 86.7% (26/30) and 90.0% (27/30) in Groups I and II, respectively (P>.99) and qualified success in 93.3% (28/30) in both groups (P= 1). There was significant improvement in corneal clarity (P < .001) and cup-to-disc ratio (P ≤ .01) in both groups at 1 year. Though incidence of hyphema was significantly more in Group I (P= .0001), no vision-threatening complications occurred in either group. Illuminated microcatheter-assisted circumferential trabeculotomy achieved comparable surgical outcomes to mitomycin C-augmented combined trabeculotomy-trabeculectomy and may be recommended as the initial surgical procedure for primary congenital glaucoma.

Megalocornea, iris desinsertion and crystalline luxation in congenital glaucoma

AbstractPurpose To present a case report of a patient with congenital glaucoma and megalocornea, who suffer iris desinsertion and crystalline luxation during adulthood.Methods We present a 46‐year‐old male with bilateral congenital glaucoma treated with bilateral goniotomy in pediatric age and right eye (RE) blind after a traumatism. He refered visual acuity (VA) loss in his left eye (LE). The visual acuity was light perception in RE and count fingers at 50 cm in LE. Ophthalmological exams evidenced asymmetric bilateral buphthalmos. The LE shows 21 mm of diameter corneal, transparent cornea, severe iridodonesis, 360º iris desinsertion, afaquia, and 22 mmHg of intraocular pressure by applanation tonometry. This eye was treated with dorzolamide and timolol maleate. Posterior luxation of the crystalline was found in the ophthalmic ultrasound.Results A +14 diopters lens provided the best corrected visual performance achievable of 0.05 with LE. Non‐invasive treatment was selected in order to avoid surgery complications.Conclusion Ophthalmologists should to monitor intraocular pressure and corneal diameter in patients with congenital glaucoma because increase in corneal diameter is a biomarker of progression of glaucoma. In these patients, interdisciplinary valuation of systemic and ophthalmological findings should be performed.

Bilateral Primary Congenital Glaucoma in Monozygotic Twins

Primary congenital glaucoma is an uncommon pediatric ocular disease contributing to a disproportionately high percentage of childhood blindness worldwide. This case report describes bilateral primary congenital glaucoma in monozygotic twins who first presented to an ophthalmologist in Ethiopia at 6 years of age. Both had severe, protracted disease, with only moderate improvement after surgical intervention.

Clinical Features of Korean Patients with Congenital Aniridia

PurposeTo investigate the clinical features of Korean patients with congenital aniridia.MethodsThis retrospective study focused on 60 eyes from 31 patients who were diagnosed with congenital aniridia at Kangnam St. Mary's Hospital from 1996 to 2007. Patient age, gender, visual acuity (VA), family history, and previous ocular history were recorded. The presence of keratopathy, glaucoma, cataract, foveal hypoplasia, and other ocular or systemic anomalies were evaluated for each patient.ResultsThe proportion of sporadic cases was 29.0%. Cataract (82.5%), glaucoma (51.6%), keratopathy (71.6%), and foveal hypoplasia (81.8%) commonly accompanied aniridia. Thirty-four (60.7%) eyes had VAs less than 20/200 and 20 eyes (35.7%) had VAs between 20/200 and 20/60. In patients without a past history of ocular surgery, the mean central corneal thickness was 643.05 ± 37.67 µm and the mean endothelial cell count was 3,349.44 ± 408.17 cells/mm2. Ocular surface surgeries were performed in 6 eyes. The clarity of the transplanted corneal graft vanished in 5 eyes with the progression of peripheral neovascularization and subepithelial fibrosis. The mean age of cataract surgery in 8 eyes was 29.8 ± 5.9 years. Postoperative worsening of corneal clouding and glaucomatous damage were observed in 4 eyes. Two infants had bilateral congenital glaucoma. Two children with sporadic aniridia were identified to have Wilm's tumors.ConclusionsCongenital aniridia is a progressive congenital disorder that is commonly accompanied by complications that can lead to impaired vision. Regular, careful examinations for these accompanying complications should be performed in all patients with congenital aniridia.

Plötzlicher Visusverlust eines 7-jährigen Patienten

A 7-year-old boy presented to us with a sudden bilateral decrease in visual acuity. At the age of 4 months bilateral congenital glaucoma had been diagnosed and trabeculotomy performed. Eye pressure and fundus were monitored regularly. Both magnetic resonance imaging and computed tomography revealed a giant supraclinoid aneurysm originating in the right internal carotid artery. After comprehensive examinations endovascular balloon occlusion of the internal carotid artery was performed in conjunction with extracranial-intracranial bypass to augment the insufficient circulation.

Glaucome secondaire à une aniridie et glaucome congénital isolé dans une même fratrie : apports et limites de la génétique

Congenital glaucoma associated with aniridia and primary congenital glaucoma are regarded as different entities. Indeed, the abnormalities of the angle's structures as well as the genes involved are different. We report the observation of two sisters presenting these two types of glaucoma with particular attention paid to the importance and the difficulty of genetic counseling. Child L, with no particular family history, had presented bilateral aniridia complicated by bilateral glaucoma since birth. In addition to medical and surgical treatment, general and genetic investigations were undertaken that revealed no abnormalities. No microdeletion of the gene PAX6 responsible for the aniridia was found. Consequently, the genetic advice was in favor of a second pregnancy for this couple. At birth, L's sister also presented bilateral congenital glaucoma, which was isolated, without aniridia. New genetic investigations were carried out but no abnormalities in PAX6, nor in FOXC1 or PITX2 involved in the development of the anterior chamber, were found. Moreover, the haplotypes for aniridia locus AN2 inherited by the two sisters were different, proof that this gene could not be responsible for the glaucoma. At L's birth, the hypothesis retained was that she was a sporadic case whose gene mutation could not be identified (which happens in 50% of sporadic cases). The risk for the second pregnancy was negligible, although not null. The primary congenital glaucoma presented by L's sister remains unexplained in the context of aniridia and the role of the PAX6 gene was eliminated. The study of PITX2 and FOXC1 genes involved in anterior segment dysgenesis proved that they were also not involved. Thus, this observation evokes the responsibility of a gene other than PAX6 in aniridia, which could also have a role in isolated congenital glaucoma. Analysis of congenital pathologies from a more genetic than clinical point of view seems to progressively break down the barriers established between the various phenotypes of hereditary congenital anomalies. Even if the association of aniridia and primary congenital glaucoma in siblings is reported here for the first time, it does not appear so extraordinary if one considers the complexity of the anterior chamber's development, which involves many genes, most of them still unidentified to date.

Beidseitiges kongenitales Glaukom bei einem Kind mit Cutis marmorata telangiectatica congenita: Ein Fallbericht

Cutis marmorata telangiectatica congenita is a rare, cutaneous and vascular anomaly characterised by congenital cutis marmorata, telangiectasis, and phlebectasia. Systemic abnormalities are frequently associated with this condition, although they may be highly variable. Ocular abnormalities are quite rare and include retinal detachment and congenital glaucoma. If glaucoma is present it is unilateral in most cases. A case of bilateral congenital glaucoma associated with cutis marmorata telangiectatica congenita in a 4-month-old girl is presented. Follow-up and treatment over a four-year period are reported. Congenital glaucoma is a rare ophthalmic condition encountered in patients with cutis marmorata telangiectatica congenita. If glaucoma is present it is most likely unilateral, although cases of bilateral glaucoma in these patients occur. Regular ophthalmological examinations are recommended for children with cutis marmorata telangiectatica congenita--especially if characteristic skin changes are present in the face.