Peters anomaly
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Peters anomaly is characterised by eye problems that occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part (iris) of the eye, and the clear covering of the eye (cornea). During development of the eye, the elements of the anterior segment form separate structures. However, in Peters anomaly, development of the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the lens. As a result, the cornea is cloudy (opaque), which causes blurred vision. The opaque area (opacity) of the cornea varies in size and intensity from a small, faint streak to a large, white cloudy area that covers the front surface of the eye. Additionally, the location of the opacity varies; the cloudiness may be at the center of the cornea or off-center. Large, centrally located opacities tend to cause poorer vision than smaller, off-center ones.
Descrizione
Peters anomaly is characterised by eye problems that occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part (iris) of the eye, and the clear covering of the eye (cornea). During development of the eye, the elements of the anterior segment form separate structures. However, in Peters anomaly, development of the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the lens. As a result, the cornea is cloudy (opaque), which causes blurred vision. The opaque area (opacity) of the cornea varies in size and intensity from a small, faint streak to a large, white cloudy area that covers the front surface of the eye. Additionally, the location of the opacity varies; the cloudiness may be at the center of the cornea or off-center. Large, centrally located opacities tend to cause poorer vision than smaller, off-center ones.
Nearly half of the individuals affected with Peters anomaly have low vision early in life and about a quarter are legally blind. Due to a lack of visual stimulation, some individuals develop "lazy eye" (amblyopia). Peters anomaly is often associated with other eye problems, such as increased pressure within the eye (glaucoma), clouding of the lens (cataract), and unusually small eyeballs (microphthalmia). In most cases, Peters anomaly is bilateral, which means that it affects both eyes, although the level of vision impairment may be different in each eye. These individuals may have eyes that do not point in the same direction (strabismus). In some people with Peters anomaly, corneal clouding improves over time leading to improved vision.
There are two types of Peters anomaly, which are distinguished by their signs and symptoms. Peters anomaly type I is characterised by an incomplete separation of the cornea and iris and mild to moderate corneal opacity. Type II is characterised by an incomplete separation of the cornea and lens and severe corneal opacity that may involve the entire cornea.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
Irido-corneo-trabecular dysgenesis
Peters congenital glaucoma
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Ulteriori letture e riferimenti
- Peters anomaly; MedlinePlus, National Library of Medicine.
- Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro DR. Peters anomaly: review of the literature. Cornea. 2011 Aug;30(8):939-44. doi: 10.1097/ICO.0b013e31820156a9.
- Chang JW, Kim JH, Kim SJ, Yu YS. Long-term clinical course and visual outcome associated with Peters' anomaly. Eye (Lond). 2012 Sep;26(9):1237-42. doi: 10.1038/eye.2012.128. Epub 2012 Jun 29.
- Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, Nizon M, Dollfus H, Kaplan J, Fares-Taie L, Rozet JM, Busa T, Lacombe D, Naudion S, Amiel J, Rio M, Attie-Bitach T, Lesage C, Thouvenin D, Odent S, Morel G, Vincent-Delorme C, Boute O, Vanlerberghe C, Dieux A, Boussion S, Faivre L, Pinson L, Laffargue F, Le Guyader G, Le Meur G, Prieur F, Lambert V, Laudier B, Cottereau E, Ayuso C, Corton-Perez M, Bouneau L, Le Caignec C, Gaston V, Jeanton-Scaramouche C, Dupin-Deguine D, Calvas P, Chassaing N, Plaisancie J. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Clin Genet. 2022 May;101(5-6):494-506. doi: 10.1111/cge.14123. Epub 2022 Feb 27.
- Harissi-Dagher M, Colby K. Anterior segment dysgenesis: Peters anomaly and sclerocornea. Int Ophthalmol Clin. 2008 Spring;48(2):35-42. doi: 10.1097/IIO.0b013e318169526c. No abstract available.
- Najjar DM, Christiansen SP, Bothun ED, Summers CG. Strabismus and amblyopia in bilateral Peters anomaly. J AAPOS. 2006 Jun;10(3):193-7. doi: 10.1016/j.jaapos.2006.01.006.
- Nischal KK. A new approach to the classification of neonatal corneal opacities. Curr Opin Ophthalmol. 2012 Sep;23(5):344-54. doi: 10.1097/ICU.0b013e328356893d.
- Shigeyasu C, Yamada M, Mizuno Y, Yokoi T, Nishina S, Azuma N. Clinical features of anterior segment dysgenesis associated with congenital corneal opacities. Cornea. 2012 Mar;31(3):293-8. doi: 10.1097/ICO.0b013e31820cd2ab.
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