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Congenital Clouding of the Cornea Treatment & Management

  • Author: Noah S Scheinfeld, JD, MD, FAAD; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Jan 21, 2016
 

Medical Care

Treatment is primarily surgical. After surgery, treatment of amblyopia and optical therapy can be helpful.

In patients with MPS I, treatment with recombinant human alpha-L-iduronidase reduces lysosomal storage in the liver and ameliorates some clinical manifestations of the disease.

The future holds new treatments for clouding of the cornea. An interesting mouse study found a cure for corneal defects in mice with mucopolysaccharidosis type VII with transplantation of umbical stem cells of the mesenchymal type from humans.[32]

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Surgical Care

For patients with bilateral and visually disabling corneal opacity, PK is recommended. To prevent amblyopia, the earlier the surgery is performed (generally prior to 3-6 months of age), the better the results.

In children, PK is a high-risk transplantation. Indications for PK increased with the improvement of surgical techniques and therapies. In children, PK allows for satisfying anatomical success but moderate visual improvement. Amblyopia is the major obstacle to success in children undergoing corneal grafting.

Surgical techniques for children differ from those used in adults because of the reduced ocular rigidity encountered in infants and young children. Use of a multispecialty team approach is important to improve the patient's visual outcome. Poor prognostic indicators include bilateral disease, concomitant infantile glaucoma, lensectomy and vitrectomy at the time of surgery, previous graft failure, extensive goniosynechiae, and extensive corneal vascularization. Prompt postoperative optical rehabilitation, combined with occlusion therapy when appropriate, is an important determinant of success.[33]

In one study, the overall success rate of graft clarity was 78% for children undergoing corneal transplantation for congenitally opaque corneas.[34] Best results were achieved in patients with posterior polymorphous dystrophy, followed by patients with Peters anomaly. Sclerocornea and congenital glaucoma were associated with a 50% likelihood of success, with repeated transplants needed in many of the eyes.

Al-Torbak performed simultaneous Ahmed glaucoma valve implantation and PK to manage refractory congenital glaucoma with corneal opacity.[35] Twenty eyes of 17 patients were studied.

The most common cause of glaucoma failure that required subsequent surgery was subconjunctival scarring, which resulted in loss of long-term IOP control. Main graft-related complications included failure (13 of 20 eyes) and graft ulceration (6 of 20 eyes). In 4 of 6 ulcerated grafts, Streptococcus pneumoniae was cultured.

Subsequent surgery was the only significant clinical factor associated with poor outcome of glaucoma. However, a low graft survival rate was significantly associated with delinquency of follow-ups, corneal ulcers, subsequent surgeries, and postoperative complications.

The long-term success of simultaneous Ahmed glaucoma valve implantation and PK in refractory congenital glaucoma associated with corneal opacity is low, and the complication rate is high.

For patients with a clear peripheral cornea, peripheral optical iridectomy may be performed.

Miller described an infant born with bilateral corneal clouding that was clinically diagnosed as congenital anterior staphyloma.[36] Peters anomaly was confirmed histopathologically and reflected one entity on the clinical spectrum of Peters anomaly. Miller detailed the patient's clinical course and histopathologic findings, as well as the unique surgical approach to corneoscleral grafting that was used to preserve the right globe.[36]

Primary combined trabeculotomy-trabeculectomy is a feasible surgical option in infants who have cloudy corneas at birth as a result of congenital glaucoma. The procedure was associated with a favorable visual outcome and a low rate of anesthetic complications in an Indian population.[37]

Frueh and Brown retrospectively assessed the prognosis and complications of corneal grafting in 58 infants and young children with congenital corneal opacities.[38]

Preoperative diagnoses included sclerocornea (27 eyes), Peters anomaly (17 eyes), partial sclerocornea (12 eyes), and congenital glaucoma (2 eyes). PK was performed between 5 days and 65 months of age with a mean follow-up of 40 months (standard deviation, 29).

The overall success (including repeat grafts) was 70% for eyes with sclerocornea, 83% for those with partial sclerocornea, and 100% for those with Peters anomaly. However, 23 eyes had to be regrafted 2 weeks to 110 months after the first surgery.

The probability of maintaining a clear graft, calculated in survival analysis, was 75% (standard error, 6%) at 1 year and 58% (7%) at 2 years for the entire group. Complications included cataract development (12 eyes), secondary glaucoma (14 eyes), epithelial defects (6 eyes), band keratopathy (5 eyes), retinal detachment (3 eyes), wound leakage (2 eyes), retrocorneal membrane (1 eye), and microbial keratitis (2 eyes).

Therefore, corneal grafting for congenital opacities in infants has an excellent potential for long-term survival and should be performed as early as possible for unilateral or bilateral involvement. The postoperative course is complex, and regrafting is often required.

In patients with MPS, corneal transplantation does not permanently resolve the problem.

A 15-year-old male adolescent had Sly disease, a rare MPS caused by a deficiency of beta-glucuronidase and progressive bilateral corneal opacification. He received complete medical, genetic, and ophthalmic evaluation followed by PK. The cornea has remained clear for 2 years after surgery. Histopathology of the corneal button demonstrated vacuoles and granular inclusions consistent with this lysosomal storage disease.

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Consultations

Consultations may include the following:

  • Pediatrician - Thorough examination to rule out other systemic abnormalities
  • Geneticist - Genetic counseling
  • Vitreoretinal surgeon - Lensectomy and/or vitrectomy
  • Cornea specialist - Keratoplasty
  • Pediatric ophthalmologist – Amblyopia therapy
  • Low-vision specialist - Management of poor vision, provision of optical aids
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Contributor Information and Disclosures
Author

Noah S Scheinfeld, JD, MD, FAAD Assistant Clinical Professor, Department of Dermatology, Weil Cornell Medical College; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Assistant Attending Dermatologist, New York Presbyterian Hospital; Assistant Attending Dermatologist, Lenox Hill Hospital, North Shore-LIJ Health System; Private Practice

Noah S Scheinfeld, JD, MD, FAAD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Abbvie<br/>Received income in an amount equal to or greater than $250 from: Optigenex<br/>Received salary from Optigenex for employment.

Coauthor(s)

Benjamin D Freilich, MD, FACS Assistant Clinical Professor, Department of Ophthalmology, Icahn School of Medicine at Mount Sinai; Director of Retina Service, Bronx Veterans Administration Medical Center

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, Jefferson Medical College of Thomas Jefferson University; Director of the Cornea Service, Co-Director of Refractive Surgery Department, 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, International Society of Refractive Surgery, Cornea Society, Eye Bank Association of America

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Cornea Society, Allergan, Bausch & Lomb, Bio-Tissue, Shire, TearScience, TearLab<br/>Serve(d) as a speaker or a member of a speakers bureau for: Allergan, Bausch & Lomb, Bio-Tissue, TearScience.

Chief Editor

Hampton Roy, Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Richard W Allinson, MD Associate Professor, Department of Ophthalmology, Texas A&M University Health Science Center; Senior Staff Ophthalmologist, Scott and White Clinic

Richard W Allinson, MD is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Acknowledgements

Jonathan Freilich, MD, FACS Clinical Instructor, Department of Ophthalmology, Mount Sinai School of Medicine; Consulting Staff, Department of Ophthalmology, Mount Sinai Hospital, St Luke's Roosevelt Hospital Center

Disclosure: Nothing to disclose.

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Congenital stromal dystrophy. The cornea is particularly opaque in the anterior stroma by slit-lamp biomicroscopy. Courtesy of Wikipedia (© 2009 Klintworth; licensee BioMed Central Ltd).
 
 
 
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