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Primary congenital glaucoma is a rare disease that causes elevated intraocular pressure within the first three years of life. Few studies have explored the association of primary congenital glaucoma with malformation of corpus callosum. We report on a six-month-old female presenting with unilateral primary congenital glaucoma associated with hypoplasia of corpus callosum in Indonesian infant. The patient had already undergone trabeculectomy surgery. However, there no obvious improvement following the procedure given the severity of the condition., Conclusion: The failure rate of surgery in severe primary congenital glaucoma conditions is still very high, and therapy can usually preserve vision if early identification of mild or moderate form is made.

We report a case of a female baby born at 34 weeks of gestation. Birth weight was 1760 g (10th-25th centile), length 41cm (10th-25th centile) and head circumference 27cm (< 10th centile). Clinical examination revealed microcephaly, hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears, a short neck, preaxial polydactyly of the right hand, and overriding toes. Investigations showed bilateral congenital glaucoma, alobar holoprosencephaly, severe ventriculomegaly and absence midline structures of the brain, a large atrial septal defect. The karyotype was 46,XX. The case was also diagnosed as having holoprosencephaly-polydactyly syndrome (pseudotrisomy 13) because she had alobar holoprosencephaly, preaxial polydactyly, facial dysmorfism (hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears) and normal karyotype.

Objective: To report 3 cases with unusual ophthalmic phenotypes of congenital aniridia., Design: Interventional case series., Participants: A 10-day-old infant with cloudy and large cornea in both eyes, 1 month-old male with bilateral corneal opacity, and 27-year-old male with low vision., Methods: Complete ophthalmic examination and genetic evaluation., Results: Case 1 was a neonate with concurrent presentation of congenital aniridia and glaucoma. Case 2 was diagnosed as congenital aniridia combined with Peters anomaly in both eyes. Case 3 had 2 unusual features of aniridia, which were asymmetric iris involvement and absence of limbal deficiency., Conclusions: It is important to perform thorough ophthalmologic evaluations in patients with congenital aniridia because of the possibilities of coexistence of other ocular abnormalities., (Copyright © 2013. Published by Elsevier Inc.)

Case Report: A newborn evaluated at 20 days old due to occasional nystagmus. Her mother had presented with oculodentodigital dysplasia (ODDD) and glaucoma. The physical examination revealed opaque micro-corneas, and horizontal nystagmus. The tonometry showed 35 mm Hg in OD and 40 mm Hg in OS and the fundus examination was normal. She had a narrow nasal bridge with narrow nostrils, and fourth and fifth finger syndactylyl in both hands. A bilateral trabeculectomy was performed with a good response., Discussion: ODDD is a rare autosomal dominant disease with heterogeneous phenotype manifestations. The most frequent cause of loss of visual acuity is the glaucoma, requiring long-term follow up with periodical control of the intraocular pressure (IOP)., (Copyright © 2010 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.)

We report a 13-year-old girl with Axenfeld-Rieger syndrome who was also found to have microspherophakia. She developed glaucoma in both eyes and was treated with bilateral pars plana lensectomy. To the best of our knowledge, no such association has been reported previously in the literature., (Copyright (c) 2010 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.)

Case Report: We present the case of a newborn baby in whom we observed aniridia, congenital glaucoma and edematous corneas, without clearance of the cornea after glaucoma surgery, and in whom a keratoplasty was considered. The patient had no evidence of systemic diseases and no deletion of chromosome 11., Discussion: It is important to perform a thorough ophthalmological and systemic exploration in newborn patients with aniridia due to other diseases that can be associated with it. We present the unusual case in which aniridia, congenital glaucoma and white corneas coexisted in a newborn baby. To our knowledge, such cases have only been reported twice before in the literature (Arch Soc Esp Oftalmol 2009; 84: 573-576).

Introduction: Congenital rubella syndrome is an ensemble of congenital malformations which results from a primary viral infection in non-immunised pregnant women. The main ophthalmologic manifestation is cataract. It involves at the same time visual and vital prognosis and can be responsible for multiple handicaps., Methods: We did a retrospective study of 16 infants (32 eyes) having undergone congenital cataract surgery compatible with congenital rubella syndrome in the Casablanca paediatric ophthalmology department between January 2001 and December 2005. All the patients underwent a complete ophthalmologic examination, otorhinolaryngologic, cardiovascular and neurological examinations, and paraclinic explorations., Results: The results were compared with those reported in the literature. In our series, 25 eyes (78.12%) had a cataract of which 56% were nuclear, 13 eyes (40.62%) had microphthalmia. One case each of corneal dystrophy and iris coloboma were described. Congenital glaucoma was found in only one case. Pigmentary retinopathy was found in 12 eyes (37.5%). Seven patients (43.75%) had associated cardiac anomalies, 6 (37.5%) deafness, 5 (31.25%) psychomotor delay and 2 (12.5%) facial dysmorphy., Conclusion: Considering the permanent disabilities caused by congenital rubella syndrome, care should be taken with the follow-up of the pregnancies and an immunization program should be implemented for good control of the circulation of the virus.

Background: 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., Case Report: 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., Conclusion: 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.

We report the second case of infantile glaucoma associated with cranio-cerebello-cardiac (3C) syndrome. An infant with systemic features consistent with 3C syndrome presented with glaucoma and underwent a goniotomy for each eye. Patients with 3C syndrome should be evaluated for glaucoma.

Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14:q23): Mesomelic dysplasias are characterized by limb shortening most prominent of the middle segment of the extremities (forearm and lower leg). In addition to several syndromic forms a few patients with sporadic or familial forms and without precise nosological classification have been reported so far. In this report we present a young female with disproportionate mesomelic dwarfism, dysmorphic facial features, bilateral glaucoma, patent ductus arteriosus, low and hoarse voice, and generalized muscular hypotonia. At the age of 2.5 years mental development is normal. High resolution G-banded chromosome studies revealed a de novo reciprocal translocation with karyotype 46,XX t (13;18)(q14;q23). The concurrence of this de novo autosomal translocation with this distinct phenotype supports the hypothesis that disruption of (a) gene(s) at the translocation breakpoints causes this unusual, apparently new form of skeletal chondrodysplasia.

A case of congenital glaucoma with developmental delay and several dysmorphic features showing 22p+ chromosomal variant is reported.

We report on two sibs (of 4) with a syndrome of minor facial anomalies, proportionate IUGR, neonatal non-autoimmune diabetes mellitus (NDM), severe congenital hypothyroidism (CH), cholestasis, congenital glaucoma, and polycystic kidneys. Liver disease progressed to hepatic fibrosis. The renal disease was characterized by large kidneys and multiple small cysts with deficient corticomedullary junction differentiation and normal kidney function. The phenotype observed in the two sibs was identical. Although a combination of liver, kidney, and pancreatic involvement has been described in Ivemark syndrome (hepato-renal-pancreatic syndrome), the coexistence of NDM, CH, and glaucoma in both sibs suggests the possibility that this combination of manifestations describes a new autosomal recessive syndrome. Mutation analysis for several candidate genes is warranted., (Copyright 2003 Wiley-Liss, Inc.)

Purpose: We present the clinical, genetic and histopathologic findings in two siblings with Muscle-Eye-Brain Disease (MEB-D), an autosomal recessive disease characterized by mental retardation, muscular dystrophy, retinal hypoplasia and brain abnormalities., Methods: Clinical, histopathologic and gene mapping studies of a family with two normal and two children with MEB-D., Results: Two siblings presented in the first few months of life with developmental delay, hypotonia, and strabismus. MRI of the brain showed colpocephaly, pontine and cerebellar atrophy, and diffuse white matter disease. Both patients were blind and had high myopia, strabismus, and retinal and optic nerve abnormalities. The older boy had glaucoma. Both children died from uncontrolled seizures. There was retinal, choroidal and RPE atrophy and optic nerve hypoplasia on ocular histopathology. Both patients shared the same parental haplotypes at the MEB locus on chromosome 1p, while an unaffected sibling did not, indicating possible linkage to the MEB locus., Conclusions: Patients with MEB-D have severe visual impairment from retinal and optic nerve hypoplasia. High myopia appears to be a consistent finding. The ocular manifestations of MEB-D appear to be distinct from those of patients with Walker-Warburg syndrome.

We report on a 28-year-old man with trisomy 7q34-qter and monosomy 15q26.3-qter caused by a paternal balanced chromosomal translocation, t(7;15)(q34;q26.3). He had bilateral congenital glaucoma (buphthalmos), as well as typical manifestations of partial trisomy 7q. To our knowledge, this is the second description of a possible relation between congenital glaucoma and 7q trisomy. He also had some Silver-Russell syndrome features, such as short stature of prenatal onset, a characteristic triangular face, clinodactyly of the fifth fingers, and body asymmetry. Fluorescence in situ hybridization analysis on his chromosomes revealed that one copy of the insulin-like growth factor 1 receptor gene (IGF1R) at 15q25-q26 was deleted, suggesting a possible role of IGF1R in the SRS phenotype., (Copyright 2001 Wiley-Liss, Inc.)

Rieger syndrome (RIEG 1; MIM 180500) is an autosomal dominant disorder of morphogenesis. It is a phenotypically heterogeneous disorder characterized by malformations of the eyes, teeth, and umbilicus. RIEG belongs to the Axenfeld-Rieger group of anomalies, which includes Axenfeld anomaly and Rieger anomaly (or Rieger eye malformation), which display ocular features only. Recently, mutations in the homeodomain transcription factor, PITX2, have been shown to be associated with Rieger syndrome. This review discusses the clinical manifestations of Rieger syndrome and how they correlate with the current molecular and biochemical studies on this human disorder.

Objectives: To introduce PHACE syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, and Eye abnormalities) to the ophthalmologic literature; to report the first case of PHACE syndrome associated with congenital glaucoma; and to review the ocular and systemic findings that may occur in this entity., Design: Case report and literature review., Methods: The authors report a child with PHACE syndrome and congenital glaucoma and review the ophthalmologic and systemic manifestations of this syndrome., Results: A 9-month-old girl with PHACE syndrome was treated. She had a large right facial hemangioma, central nervous system (CNS) abnormalities, and cardiac anomalies. Glaucoma was detected in her left eye, and she underwent glaucoma surgery. She did well following two glaucoma procedures, and the facial hemangioma is responding to medical treatment., Conclusions: Ophthalmologists who examine children with large facial hemangiomas should consider PHACE syndrome in the differential diagnosis and should obtain appropriate CNS imaging studies and cardiac evaluation when the diagnosis is suspected. Congenital glaucoma should be added to the list of PHACE-associated ocular anomalies.

A case of severe, generalised vascular dysplasia presenting as an intra-abdominal catastrophe is reported. Associated clinical features included cutis marmorata telangiectatica congenita, congenital glaucoma, hypertension, and focal fits. The case has been reported in view of its rarity and nature of presentation.

The association of unilateral primary developmental glaucoma with iridotrabecular dysgenesis and congenital ectropion uveae has been well documented in the literature. The glaucoma in this entity may present at birth, infancy or may develop at a later stage in life. I report the case of a child with late-onset unilateral primary developmental glaucoma due to iridotrabecular dysgenesis, congenital ectropion uveae, and who had a previously undescribed association with ipsilateral thickened corneal nerves in the stroma.

We present a boy followed from age 5-13 years who is the fifth reported case of ter Haar syndrome. This is a recently-named entity comprising congenital glaucoma, hypertelorism, congenital heart defects and kyphoscoliosis, skeletal dysplasia, and developmental delay. These patients were originally thought to have an autosomal-recessive form of Melnick-Needles syndrome, and were only identified as having a distinct syndrome with the report of the fourth case. Probable autosomal-recessive inheritance is based on consanguinity in 4 of 5 cases. Ocular, cardiac, and craniofacial findings distinguish ter Haar syndrome as a distinct entity. Our patient is the longest survivor at present, suggesting that there is heterogeneity in this syndrome or, alternatively, that aggressive therapy of the congenital heart defects has significant effect.

Purpose: We examined the clinicopathologic features of a male infant with the CHARGE association and bilateral congenital glaucoma., Methods: Trabeculectomy specimens were obtained from the anterior chamber angle and examined by light and electron microscopy., Results: Histopathologic examination of the trabeculectomy specimens showed immature development of the trabecular meshwork that was covered by the ciliary muscles. There were few intertrabecular spaces because the meshwork was almost completely filled with cells and extracellular substances. Deposition of a granular and/or homogeneous substance was observed in the subendothelial area of Schlemm's canal., Conclusions: Our patient exhibited features typical of the CHARGE association, but also had congenital glaucoma. We hypothesize that these clinical findings are all mediated by a neurocristopathic mechanism. Our findings suggest that the CHARGE association may predispose to anterior chamber angle maldevelopment, which can lead to congenital glaucoma.

We report the seventh case of the 3C syndrome or Cranio-Cerebello-Cardiac dysplasia. The presence of congenital glaucoma in our patient suggests that this is a previously undescribed feature of this syndrome, which is presumed to be autosomal recessive.

A female child with mosaic partial deletion of 11q is reported. At 1 month of age she was presented with cogenital glaucoma, trigonocephaly and multiple minor anomalies. She exhibited growth retardation and the typical phenotype of 11q- syndrome. G-banding analysis failed to show any abnormality, although subsequent high resolution banding revealed the abnormal karyotype 46,XX,del(11)(q23.3 q24.2)/46,XX,del(11)(q23.3 q25). This case is a second case of mosaic 11q- syndrome and her karyotype suggests that the region of 11q23.3-11q24.2 is critical in 11q-syndrome. Congenital glaucoma has never been reported as a complication of 11q- syndrome.

We report an autopsy case of 4-day-old male infant with arthrogryposis multiplex congenita studied by histological methods in respect to the ocular tissues. The eye examined was normal in size, and the retina, optic nerve, choroid, sclera and extracocular muscle showed no remarkable histological changes. However, the cornea was thickened, and the iris, trabecular tissue and ciliary body showed maldevelopmental changes, which were all compatible with goniodysgenesis. The clinical data of this case did not demonstrate any signs of congenital glaucoma, but the present study indicates that an infant with arthrogryposis multiplex congenita has a potential for infantile glaucoma with goniodysgenesis.

We have observed congenital glaucoma in a patient with a skeletal dysplasia closely resembling Kniest syndrome. The clinical and radiographic features, along with the differential diagnosis of Kniest syndrome, are discussed. Review of the literature suggests a relationship between the pathophysiology of bone dysplasia and congenital glaucoma. Congenital glaucoma may be an additional ocular finding in Kniest syndrome.

A 15 years old boy was deferred to our department with growth hormone deficiency, deafness with middle ear bones involvement, and a facial dysmorphy called Binder syndrome. He presented ocular abnormalities with juvenile glaucoma and iris anterior insertion and goniodysgenesis. All these pathologic features are linked with the development of the neural crests. In our knowledge, it is the first so complete clinical association reported, which emphasizes the important role of the neural crest cells in early organogenesis.

Three sisters with congenital glaucoma, peculiar facies and mild skeletal anomalies are described. It is concluded that such an aggregate of anomalies probably corresponds to a 'new' autosomal recessive syndrome.

Twenty-four patients with the diagnosis of Axenfeld's anomaly or Rieger's anomaly or syndrome were the subjects of a clinical study, which included specular microscopy of the corneal endothelium in 16 cases and fluorescein angiography of the iris in 5. Histopathologic material was obtained from ten eyes of eight of these patients (one enucleated eye and nine trabeculectomy specimens) and was studied by light and electron microscopy. The overlapping of ocular and nonocular defects in these patients prevented subclassification according to traditional criteria. Any attempted subdivision appears to have minimal clinical value, and a single classification for the disease spectrum is believed to be more practical. The collective term Axenfeld-Rieger (A-R) syndrome is proposed. A theory of mechanism for the ocular features of the A-R syndrome is postulated which involves a developmental arrest, late in gestation, of tissues derived from neural crest cells. This leads to retention of primordial endothelial tissue on the iris and across the anterior chamber angle, which produces the iridic changes and the peripheral tissue strands. Continued contraction of these membranes after birth explains the progressive changes noted in some patients. This primordial endothelium also produces excessive and atypical basement membrane, especially near the corneolimbal junction, which accounts for the prominent Schwalbe's line. The secondary glaucoma results from arrested development of the anterior chamber angle structures, characterized by incomplete maturation of the trabecular meshwork and Schlemm's canal and a high insertion of the iris. The ICE syndrome may be confused with the A-R syndrome on the basis of certain clinical and histopathologic similarities. Based on available evidence, however, it is postulated that the two entities are distinctly separate, in that the fundamental defect in the ICE syndrome is believed to be an abnormality of the corneal endothelium with secondary proliferation of a tissue layer over the anterior chamber angle and iris, while the A-R syndrome is thought to represent a developmental arrest with retention of a primordial membrane and other developmental defects.

In the pathology of malformations it is only in very few cases possible to identify a complete syndromal picture; the authors present some multimalformative syndromes, observed in the past few years at the Department of Pediatric Ophthalmology of the University of Siena. The ocular findings are reported and discussed in relation with the general features in order to make a correct diagnosis.

A child is described with a de novo direct duplication of the region 2q11 X 2 leads to 2q14 X 2. She probably represents the first reported case of proximal 2q duplication. The abnormalities included short stature, microcephaly, brachycephaly, depressed nasal bridge, prominent philtrum, congenital glaucoma, and mental retardation.