The eye
Angus Clarke, Alex Murray, Julian Sampson in 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.
Cytomegalovirus (CMV) Infection
Sunit K. Singh, Daniel Růžek in Neuroviral Infections, 2013
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.
The Developmental Glaucomas
Neil T. Choplin, Carlo E. Traverso in Atlas of Glaucoma, 2014
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).
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
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.
Recent advances in paediatric keratoplasty
Published in Expert Review of Ophthalmology, 2018
Bhavana Sharma, Smrutirekha Priyadarshini, Sunita Chaurasia, Sujata Das
Presence of any other concomitant ocular morbidity should be adequately treated. Additionally, in cases of Peters anomaly, possibility of association of central nervous system abnormalities should prompt the ophthalmologist to look for signs thereof (developmental delay, structural defects, seizure disorders, and fetal alcohol syndrome) as these increase the difficulty of care for the child [1]. Presence of glaucoma requires medical/surgical treatment before a corneal transplantation, which should only be done after the IOP is controlled to avert the risk of glaucoma associated graft failure. In cases of coexisting glaucoma, it is imperative to control IOP prior to surgery by antiglaucoma medications (prostaglandin analogues, beta-blockers, and carbonic anhydrase inhibitors). In refractory cases, a filtering procedure may be preferred over valve to avoid frictional effect of the tube on the endothelium and lens. Presence of any ocular surface disorder like dry eyes, limbal ischemia, meibomian gland dysfunction, and corneal vascularization should be treated beforehand for good results in terms of graft clarity and visual outcome.
Related Knowledge Centers
- Anterior Segment of Eyeball
- Glaucoma
- Corneal Opacity
- Mesenchyme
- Iris
- Cornea
- Stroma of Cornea
- Descemet'S Membrane
- Corneal Endothelium
- Lens