Sections

Peters Anomaly

Sections Peters Anomaly
Overview
Presentation
- History
- Physical
- Causes
- Complications
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DDx
Workup
Treatment
References

Workup

Laboratory Studies

Peters anomaly is a clinical diagnosis. Depending on the physical examination, laboratory studies may be warranted.

Imaging Studies

The following imaging studies may be performed based on the clinical findings from the physical examination:

Ocular ultrasonography

Ocular ultrasonography is a useful tool to help diagnose Peters anomaly and to differentiate it from other causes of corneal opacity.

Ocular ultrasonography is also helpful in assessing associated anterior segment abnormalities.^[29]

Ocular ultrasonography shows hypoechogenicity of the anterior stroma that histopathologically correlates with the absence of the Bowman layer and the presence of stromal edema.^[29]

Ultrasound biomicroscopy

Ultrasound biomicroscopy (UBM) is a type of ultrasonography that provides detailed information about the anterior segment of the eye and can visualize iridocorneal and lenticular-corneal adhesions that may be seen in Peters anomaly.

Topical endoscopic imaging

Topical endoscopic imaging (TEI) is a method used to examine the anterior segment using an otoscope through a small clear area of cornea.^[30]

Infrared anterior segment camera

An infrared anterior segment camera is a tool used to observe the iris and its relation to the cornea. The mobility of the camera is useful in infants, although the resolution of the imaging may be too low in some cases.^[31]

Other Tests

Additional testing should be performed if Peters plus syndrome is suspected or if there is concern for systemic associations.

Hearing tests

Hearing tests may be performed to rule out hearing abnormalities.

MRI

MRI of the brain and the spinal cord are indicated to rule out neurologic defects.

MRI of the abdomen is indicated to rule out genitourinary abnormalities.

Echocardiography

Echocardiography (ECHO) is indicated to rule out cardiac defects.

Procedures

A thorough ocular examination may be performed under anesthesia. Any clinical manifestations and systemic abnormalities must be determined before any procedure is performed under anesthesia.^[13] Associated abnormalities, including a difficult airway or congenital heart disease, will affect anesthesia management.

External photography, ocular ultrasonography (see Imaging Studies), intraocular pressure assessment, and retinoscopy may also be performed.

Histologic Findings

Histopathology is often diagnostic. Histologic findings show either thinning or absence of the Descemet membrane or the endothelium. The lens may be normal, or it may be cataractous and adhere to the cornea. The stromal lamellae are irregular and more closely packed. Undifferentiated iris strands attach to the posterior surface of the cornea.^[32]

Histochemical studies have shown absence of keratan sulfate in both the cornea and the sclera.^[33]

Immunohistochemical studies have shown increased amounts of fibronectin and type VI collagen in the corneas of patients with Peters anomaly.^{[33, 34]}

Treatment & Management

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Kim M, Lee SC, Lee SJ. Spontaneous corneal perforation in an eye with Peters' anomaly. Clin Ophthalmol. 2013. 7:1535-7. [QxMD MEDLINE Link].
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Doward W, Perveen R, Lloyd IC, Ridgway AE, Wilson L, Black GC. A mutation in the RIEG1 gene associated with Peters' anomaly. J Med Genet. 1999 Feb. 36(2):152-5. [QxMD MEDLINE Link].
Krachmer JH, Mannis MJ, & Holland EJ. Cornea. 3. St. Louis: Mosby; 2011.
Gondhowiardjo TD, van Haeringen NJ. Corneal aldehyde dehydrogenase, glutathione reductase, and glutathione S-transferase in pathologic corneas. Cornea. 1993 Jul. 12(4):310-4. [QxMD MEDLINE Link].
Kivlin JD, Apple DJ, Olson RJ, Manthey R. Dominantly inherited keratitis. Arch Ophthalmol. 1986 Nov. 104(11):1621-3. [QxMD MEDLINE Link].
M Senthilkumar , V D, Punj J, Pandey R. Peters' anomaly - anaesthetic management. Indian J Anaesth. 2009 Aug. 53(4):501-3. [QxMD MEDLINE Link].
Kurilec J, Zaidman GW. Incidence of Peters anomaly and congenital corneal opacities interfering with vision in the United States. Cornea. 2014 Aug. 33(8):848-50. [QxMD MEDLINE Link].
Mayer UM. Peters' anomaly and combination with other malformations (series of 16 patients). Ophthalmic Paediatr Genet. 1992 Jul. 13(2):131-5. [QxMD MEDLINE Link].
Ozeki H, Shirai S, Nozaki M, Sakurai E, Mizuno S, Ashikari M, et al. Ocular and systemic features of Peters' anomaly. Graefes Arch Clin Exp Ophthalmol. 2000 Oct. 238(10):833-9. [QxMD MEDLINE Link].
Traboulsi EI, Maumenee IH. Peters' anomaly and associated congenital malformations. Arch Ophthalmol. 1992 Dec. 110(12):1739-42. [QxMD MEDLINE Link].
Kim YW, Choi HJ, Kim MK, Wee WR, Yu YS, Oh JY. Clinical outcome of penetrating keratoplasty in patients 5 years or younger: peters anomaly versus sclerocornea. Cornea. 2013 Nov. 32(11):1432-6. [QxMD MEDLINE Link].
Ghose S, Kishore K, Patil ND. Oculoauricular dysplasia syndrome of Goldenhar and Peters' anomaly: a new association. J Pediatr Ophthalmol Strabismus. 1992 Nov. 29(6):384-6. [QxMD MEDLINE Link].
Cibis GW, Waeltermann J, Harris DJ. Peters' anomaly in association with ring 21 chromosomal abnormality. Am J Ophthalmol. 1985 Nov. 100(5):733-4. [QxMD MEDLINE Link].
Frydman M, Weinstock AL, Cohen HA, Savir H, Varsano I. Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome. Am J Med Genet. 1991 Jul. 40(1):34-40. [QxMD MEDLINE Link].
Hennekam RC, Van Schooneveld MJ, Ardinger HH, Van Den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, et al. The Peters'-Plus syndrome: description of 16 patients and review of the literature. Clin Dysmorphol. 1993 Oct. 2(4):283-300. [QxMD MEDLINE Link].
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Reis LM1, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, et al. Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet A. 2008 Oct 15. 146A(20):2603-10. [QxMD MEDLINE Link].
Heinonen TY, Maki M. Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats. Ann Med. 2009. 1(2):2-10. [QxMD MEDLINE Link].
Wertelecki W, Dev VG, Superneau DW. Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly. Ophthalmic Paediatr Genet. 1985 Aug. 6(1-2):247-55. [QxMD MEDLINE Link].
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Cameron JA. Good visual result following early penetrating keratoplasty for Peters' anomaly. J Pediatr Ophthalmol Strabismus. 1993 Mar-Apr. 30(2):109-12. [QxMD MEDLINE Link].
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Author

Danielle Trief, MD Assistant Professor of Ophthalmology, Columbia University College of Physicians and Surgeons

Disclosure: Nothing to disclose.

Coauthor(s)

Sara K Schroder Barnard College

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Christopher J Rapuano, MD Professor, Department of Ophthalmology, Sidney Kimmel Medical College of Thomas Jefferson University; Director of the Cornea Service, Wills Eye Hospital

Christopher J Rapuano, MD is a member of the following medical societies: American Academy of Ophthalmology, American Ophthalmological Society, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, Cornea Society, Eye Bank Association of America, International Society of Refractive Surgery

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: AAO; OMIC; American Society of Ophthalmic Trauma (ASOT); Avellino, Baxis; Bio-Tissue; Celularity; Dompe; Emmecell; Glaukos; Kala; Oyster Point; Sun Ophthalmics; Tarsus; TearLab<br/>Serve(d) as a speaker or a member of a speakers bureau for: Glaukos; Dompe; Bio-Tissue<br/>Received research grant from: Glaukos<br/>Received income in an amount equal to or greater than $250 from: AAO; OMIC; Baxis; Bio-Tissue; Cellularity; Dompe; Glaukos; Kala; Sun Ophthalmics; TearLab<br/>stock options for: RPS, Fount Bio.

Chief Editor

Donny W Suh, MD, MBA, FAAP, FACS Professor, Department of Ophthalmology, Chief of Pediatric Ophthalmology and Adult Strabismus, Medical Director of Eye-Mobile, Gavin Herbert Eye Institute, UC Irvine Health, University of California, Irvine, School of Medicine; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Chief Medical Officer, Suh Precision Syringe, LLC; Medical Staff, Children’s Hospital of Orange County

Donny W Suh, MD, MBA, FAAP, FACS is a member of the following medical societies: American Academy of Ophthalmology, American Academy of Pediatrics, American Association for Pediatric Ophthalmology and Strabismus, American College of Healthcare Executives, American College of Surgeons, American Medical Association, Section on Ophthalmology, American Ophthalmological Society, International Strabismological Association, Iowa Medical Society, Metro Omaha Medical Society, National Eye Care Project, Nebraska Chapter of American Academy of Pediatrics, ORBIS, Surgical Eye Expeditions (SEE) International

Disclosure: Received research grant from: NIH / PEDIG.

Additional Contributors

Brian A Phillpotts, MD Ophthalmologist, St Luke's Cataract and Laser Institute

Brian A Phillpotts, MD is a member of the following medical societies: American Academy of Ophthalmology, American Diabetes Association, American Society of Retina Specialists, Association for Research in Vision and Ophthalmology, Association of University Professors of Ophthalmology

Disclosure: Nothing to disclose.

Guruswami Giri, MD, FRCS Vitreo-Retinal Surgeon, Sacramento, CA

Guruswami Giri, MD, FRCS is a member of the following medical societies: American Academy of Ophthalmology, Royal College of Surgeons of Edinburgh, Royal College of Ophthalmologists

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the assistance of Ryan I Huffman, MD, with the literature review and referencing for this article.

Peters Anomaly Workup