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The eye
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Congenital glaucoma may develop secondary to anterior segment malformation (Peters anomaly, Rieger syndrome, aniridia) and other generalised ocular problems (e.g. Sturge-Weber syndrome). When it is primary, a proportion of families appears to follow autosomal recessive inheritance, but isolated cases are much too common for this mode to explain all cases. The risk to sibs after a single affected child is around 10%; after two affected sibs, a 25% risk should be advised. Risks to children of affected individuals are uncertain. Assuming a mixture of recessive and polygenic forms, a risk of 5% seems appropriate until data are available. A specific cytochrome P450 gene on chromosome 2p, CYP1B1, has been shown to be responsible for some recessively inherited families, but other genetic loci also exist.
The Developmental Glaucomas
Published in Neil T. Choplin, Carlo E. Traverso, Atlas of Glaucoma, 2014
Carlo E. Traverso, Alessandro Bagnis
The most common forms of congenital glaucomas are characterized by genetic heterogeneicity. Recessive forms are more evident in communities in which marriages within the family are common. Abnormalities that involve a number of different chromosomes have been described and suggest that many different genes may be responsible for developmental glaucomas. Some of the genes involved in glaucomas associated with other anomalies, such as aniridia, iridodysgenesis, Peters’ anomaly, and Rieger’s syndrome, have been identified (see Table 13.2).
Cytomegalovirus (CMV) Infection
Published in Sunit K. Singh, Daniel Růžek, Neuroviral Infections, 2013
Souichi Yamada, Rumi Taniguchi, Isao Kosugi, Naoki Inoue
CMV DNA and antigens were detected in 15% of singleton, >20-week stillborn infants, suggesting that congenital CMV infection is one of the major causes of stillbirths (Iwasenko et al. 2011). Congenital CMV infection also causes central nervous system (CNS) damage and “cytomegalic inclusion disease” characterized by intrauterine growth retardation, jaundice, hepatosplenomegaly, thrombocytopenia, and pneumonia in newborns. Clinical manifestations of CNS involvement in infants with congenital CMV infection include microcephaly, intracerebral calcifications, seizures, developmental delays, chorioretinitis, strabismus, optic atrophy, and SNHL (Coats et al. 2000; Jones 2003). Although microphthalmos, anophthalmia, optic nerve coloboma, Peters’ anomaly, and irregular retinal pigment have been also observed (Frenkel et al. 1980), their relationship with CMV is unclear.
Lacrimal drainage system involvement in Peters anomaly: clinical features and outcomes
Published in Orbit, 2021
Nandini Bothra, Abhimanyu Sharma, Mohammad Javed Ali
Peters anomaly was initially described by German ophthalmologist Alfred Peters as a syndrome of shallow anterior chamber, synechiae between iris and cornea, central corneal leukoma, and a defect in the Descemet membrane.,1,2 The incidence of ocular malformations in new-born range from 3.3 to 6.0 per 10,000 births3 and Peters anomaly accounts for the largest proportion of the anterior segment dysgenesis.4 The inheritance of this disorder can be sporadic (most common), autosomal dominant via homeobox genes PAX6, FOXC1, and PITX2 or autosomal recessive (via CYP1B1).5 The genes PAX6, FOXC1, and PITX2 are involved in development of the anterior segment of the eye and CYP1B1 gene encodes a member of the cytochrome p450 superfamily of enzymes which are involved in the metabolism of a signalling molecule essential for development of cornea.5
Ophthalmologic findings in the Cornelia de Lange syndrome
Published in Ophthalmic Genetics, 2019
Rare findings of the anterior segment include corectopia (12,16), partial pupillary membrane (12), and iris thinning (33). In one case, there was anisocoria and an irregularity of the pupillary annulus minor, which was absent superiorly in both eyes (23). One case has been reported with bilateral aniridia, posterior embryotoxon, and congenital glaucoma (36). As aniridia and congenital glaucoma are themselves rare diagnoses, the authors question whether there may be an association with CdLS, although this is difficult to assess given the limited number of prior studies with complete and detailed ophthalmic examinations in patients with CdLS. To our knowledge, four cases of congenital glaucoma have been reported (5,9,36) and in three of these cases, the patient had a frameshift mutation in the NIPBL gene (no genotype analysis was performed for the remaining patient). One of these patients also had mosaic Turner syndrome (9). Another child was reported with “secondary aniridia,” glaucoma, and retinoblastoma in one eye (described below) (37). One case of Peters anomaly has been reported in an infant who underwent corneal transplantation and later developed glaucoma (38). Other patients with corneal scars and opacities have been reported, but these may have been due to chronic blepharoconjunctivitis (12,15). Although some older reports have documented the finding of blue sclerae (12,24,37,39), this has not been noted in any recent series.
Identification of PITX3 mutations in individuals with various ocular developmental defects
Published in Ophthalmic Genetics, 2018
Celia Zazo Seco, Julie Plaisancié, Tatiana Lupasco, Caroline Michot, Jacmine Pechmeja, Julian Delanne, Edouard Cottereau, Carmen Ayuso, Marta Corton, Patrick Calvas, Nicola Ragge, Nicolas Chassaing
Family 1, heterozygous c.640_656dup (p.Gly220Profs*95) mutation: A large French family (Figure 1(a)) with autosomal dominant cataract with a large intra-familial variability ranging from congenital cataract to Peters anomaly was ascertained. The index case (II:5) presented with Peters anomaly in one eye and cataract in the other eye. His mother (I:3) was not affected, however, his deceased father (I:4) had presented with posterior embryotoxon and congenital cataract. The index case had an older brother (II:4) who presented with congenital bilateral cataract that were operated at the ages of 30 (right eye) and 33 (left eye). The II:4 case had a seven months old child (III:3) with Peters anomaly and posterior embryotoxon. The younger sister (II:7) presented with congenital cataract operated at the age of 14 years old. The younger brother (II:6) was unaffected. A paternal cousin was identified by history with unilateral congenital cataract. General physical examination and history did not reveal any additional ocular or extra-ocular abnormalities.