Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Secondary Congenital Glaucoma Clinical Presentation

  • Author: Inci Irak Dersu, MD, MPH; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Mar 14, 2014
 

History

See the list below:

  • Axenfeld-Rieger syndrome: Distinct iris and pupil abnormalities are noticed by parents at an early age.
  • Peters anomaly: Most cases are clinically recognizable in infancy with the loss of corneal clarity due to edema or scar.
  • Phakomatoses
    • Neurofibromatosis (von Recklinghausen disease): Patients seek medical attention for skin or eyelid lesions or eye enlargement.
    • Sturge-Weber syndrome (encephalofacial angiomatosis): The characteristic presentation is a red facial lesion since birth and is shown in the image below.
      Female infant with Sturge-Weber syndrome. Facial pFemale infant with Sturge-Weber syndrome. Facial port-wine nevus involves the left eyelid, associated with ipsilateral buphthalmos.
  • von Hippel-Lindau (retinal angiomatosis): Patients usually present in their 20s or 30s with benign and malignant tumors in multiple organs.
  • Aniridia
    • Most patients present a few months after birth with pupillary abnormalities.
    • Obtain a full family history, and perform an ocular examination of parents and other relatives. Most cases of aniridia are familial, and it has an autosomal dominant transmission.
    • Decreased vision, photophobia, nystagmus, and strabismus are the most common clinical manifestations. Because glaucoma develops later in life, enlargement of the cornea is not part of the presentation.
  • Nanophthalmos is a developmental retardation of the globe after the closure of embryonic fissure. It is usually bilateral. It may be sporadic or transmitted in an autosomal dominant or recessive pattern. The eye is normal in shape but reduced in volume, and the sclera is remarkably thick. Young patients have high hyperopic refraction.
Next

Physical

Ocular examination findings for associated conditions are described below.

  • Aniridia
    • Decreased visual acuity, pendular nystagmus, corneal pannus, microcornea, focal lens opacity, or lens subluxation may be noticeable.
    • Intraocular pressure (IOP) is elevated.
    • Foveal and optic nerve hypoplasia are frequent findings and partially the cause of poor visual acuity.
    • Gonioscopic examination reveals rudimentary iris, even if there is no visible iris during regular slit lamp examination.
    • The angle may be closed with peripheral anterior synechiae.
  • Axenfeld-Rieger syndrome
    • A prominent, anteriorly displaced Schwalbe line is seen as a white line with slit lamp microscopy.
    • Microcornea, macrocornea, and corneal opacity may be observed in certain cases.
    • Iris examination reveals polycoria, corectopia (shown in the image below), and ectropion uvea.
      Axenfeld-Rieger syndrome with iris atrophy, corectAxenfeld-Rieger syndrome with iris atrophy, corectopia, and pseudopolycoria.
    • Iris strands and high insertion of iris (especially in patients with glaucoma) are prominent in gonioscopy.
    • IOP is elevated when glaucoma develops. In association, strabismus, cataract, macular degeneration, and coloboma may be found.
  • Peters anomaly
    • Corneal findings vary from minimal corneal edema to dense corneal leukoma. In some cases, corneal edema may regress with leaving residual scar behind.
    • Iridocorneal adhesions more commonly are located temporally.
    • Fifty percent of patients have glaucoma.
    • Associated anomalies may be present, as follows: anterior polar cataract, microphthalmia, microcornea, sclerocornea, or Axenfeld anomaly.
  • Neurofibromatosis (von Recklinghausen disease)
    • Patients have characteristic café au lait spots, plexiform neurofibroma of the upper eyelid, and axillary freckles. If plexiform neurofibroma is present, a 50% chance of developing glaucoma exists.
    • Glaucoma is always unilateral, usually exists at birth or shortly after, and presents as buphthalmos with or without corneal edema.
    • Buphthalmos may occur in the absence of elevated pressure due to regional hypertrophy. Buphthalmos is shown in the image below.
      Female patient with plexiform neurofibroma (NF-1).Female patient with plexiform neurofibroma (NF-1). Upper right eyelid involvement, associated with ipsilateral buphthalmos. In Image A (left), patient is aged 8 months; in Image B (right), patient is aged 8 years.
    • Congenital ectropion uvea sometimes occurs with neurofibromatosis, and it is more likely to be associated with glaucoma.
    • Lisch nodules (bilateral, yellow greenish, dome-shaped iris elevations) usually appear after patients are 3 years and more frequently as the patient ages.
    • Pulsating proptosis, choroidal lesions, optic nerve glioma, and optic nerve sheath meningioma are other ocular findings.
  • Sturge-Weber syndrome (encephalofacial angiomatosis)
    • Corneal enlargement with or without glaucoma is seen in about two thirds of cases.
    • IOP is elevated in glaucoma cases.
    • Conjunctival vessels are dilated.
    • Retinal vessels appear tortuous, and choroidal hemangioma presents with a tomato catsup appearance at the posterior pole.
  • Nanophthalmos: Patients have deeply set eyeballs in addition to narrowing of the palpebral fissure. Narrowing of the anterior chamber angles occurs between the fourth and sixth decades due to the short axial length, small cornea, and forward rotation of the lens/iris diaphragm and ciliary body.
  • von Hippel-Lindau (retinal angiomatosis)
    • On retinal examination, an elevated globular mass and enlarged feeding artery and vein are seen next to the lesion.
    • Exudation from the mass causes retinal detachment. Intravitreal and intraretinal hemorrhage causes loss of vision.
    • Neovascular glaucoma is observed in long-standing cases.
  • Lowe syndrome (oculocerebrorenal syndrome): Findings include microphthalmos, strabismus, nystagmus, miosis, and iris atrophy.
  • Persistent hyperplastic primary vitreous (persistent fetal vasculature) consists of microphthalmos, cataract, glaucoma, and retinal detachment that results from persistence and growth of fibrovascular structure anteriorly.
  • Retinopathy of prematurity
    • Bilateral glaucoma is caused by a shallow anterior chamber due to contraction of retrolental mass and peripheral anterior synechiae.
    • Anterior chamber abnormalities, such as a prominent Schwalbe line, have been described.
    • Glaucoma occurs in late stages, usually after age 2 years.
Previous
Next

Causes

See the list below:

  • Aniridia
    • A defect in the PAX6 gene on chromosome 11 has been identified as the cause of aniridia. It can be sporadic and familial. The sporadic type is associated with Wilms tumor.
    • Although the name aniridia indicates a total absence of the iris, some amount of the iris stump is commonly found.
    • The anterior chamber angle closes slowly as the iris strands from the stump progresses toward the angle, which causes clinical manifestations of glaucoma in late childhood or adolescence.
  • Axenfeld-Rieger syndrome
    • On postulated pathophysiologic mechanisms that have been abandoned, Axenfeld-Rieger syndrome also was known as anterior chamber cleavage syndrome and mesodermal dysgenesis of the cornea and iris. The basic pathology is the developmental arrest of the neural crest cells during gestation. Because these cells are the origin of facial bones and teeth, abnormalities of these structures are associated with ocular abnormalities.
    • In Axenfeld anomaly, a prominent, anteriorly (centrally) displaced Schwalbe line (posterior embryotoxon) and iris strands are present that reach to the angle.
    • When Axenfeld anomaly is associated with glaucoma, it is termed Axenfeld syndrome.
    • In Rieger anomaly, with or without posterior embryotoxon or iris strands, corectopia (displacement of pupil) is present due to iridocorneal adhesions that are associated with membrane covering angle; polycoria (multiple pupils) due to iris atrophy and hole formation; and ectropion uvea.
    • Small-sized teeth (microdontia) and decreased number of teeth (hypodontia) of anterior maxillary incisors are observed.
    • When the whole anomaly is associated with glaucoma, it is termed Rieger syndrome.
    • Lately, Axenfeld-Rieger syndrome has been used for all types of clinical presentations.
  • Peters anomaly
    • Peters anomaly is characterized by bilateral congenital central corneal opacity, which is associated with iridocorneal adhesions toward the defective area.
    • The peripheral cornea is clear, and the total cornea is of normal size in most cases.
    • Peters anomaly results from the absence or thinning of endothelium, Descemet membrane, posterior corneal stroma, and sometimes Bowman layer.
    • Large fibroblastic cells fill into this space and adhere to the counterpart iris section.
    • Several mechanisms have been proposed, as follows: anoxia, infection (eg, rubella), and a mechanism that is similar to Axenfeld-Rieger anomaly.
    • Most cases of Peters anomaly have a sporadic origin. A mutation in the PAX6 gene on chromosome 11 has been identified.
    • The mechanism of glaucoma is reported as a problem in differentiation from neural crest cells, causing trabecular meshwork anomalies, such as absence of the Schlemm canal.
  • Neurofibromatosis (von Recklinghausen disease)
    • This is an autosomal disorder that is characterized by skin lesions in peripheral neurofibromatosis (NF-1) or by multiple nervous system tumors (eg, acoustic neurinoma, meningioma) in central neurofibromatosis (NF-2). Sporadic cases have been reported, especially in NF-1. Mutation of chromosome 17 in NF-1 and chromosome 22 in NF-2 has been described.
    • Pathology: Generally, abnormal neural crest cell proliferation is present. Glaucoma more likely occurs when the ipsilateral upper eyelid is involved with plexiform neurofibroma. It always is unilateral.
    • The exact mechanism of glaucoma is unknown, but developmental malformation of the angle, peripheral anterior synechiae, infiltration of angle with neurofibromatosis tissue, thickened choroid, and anteriorly extended ciliary processes are pathological findings.
  • Sturge-Weber syndrome (encephalofacial angiomatosis)
    • This nonhereditary neurocutaneous syndrome is characterized by facial cutaneous hemangioma (nevus flammeus or port wine stain) that affects first and second divisions of the trigeminal nerve and can result in seizures and mental deficiency.
    • Hemangiomas may occur bilaterally in 10-30% of cases.
    • Glaucoma may appear on both eyes, regardless of whether facial hemangioma is unilateral or bilateral.
    • Choroidal hemangioma (which grows slowly) occurs in 40% of cases and is a cavernous type of hemangioma. Calcification of cortex, especially of occipital lobe, is seen on CT scan of the head.
    • Mental deficits are observed in 60% of patients.
    • Hemianopsia and hemiparesis also are common.
    • The combination of elevated episcleral pressure secondary to small arteriovenous fistulas and developmental angle abnormality causes glaucoma.
  • von Hippel-Lindau (retinal angiomatosis)
    • This neurocutaneous disorder is autosomal dominant and is associated with hemangioblastoma of the retina and cerebellum. Renal cell carcinoma also develops later in life.
    • Average age of onset of the disease is 20-25 years.
    • Retinal angiomas consist of capillary proliferation, which leaks on fluorescent angiography. Iridocyclitis and neovascularization of the iris cause neovascular glaucoma.
  • Lowe syndrome (oculocerebrorenal syndrome)
    • This disorder is X-linked and is characterized by ocular and renal abnormalities and mental retardation.
    • Ocular disorders include congenital cataract and glaucoma, which are the earliest signs of the syndrome.
    • Pathology: Glaucoma is secondary to the microphakia and angle abnormalities.
  • Persistent hyperplastic primary vitreous (persistent fetal vasculature)
    • Glaucoma is secondary to shallow anterior chamber, which results from cataract formation or pulling of fibrovascular membrane lens-iris diaphragm forward.
    • Ciliary processes also are pulled forward.
  • Stickler syndrome: Also called hereditary arthro-ophthalmology, Stickler syndrome is transmitted in an autosomal dominant pattern. Besides glaucoma, other ocular findings include strabismus, amblyopia, high myopia, cataract, vitreoretinal degeneration, and retinal detachment. Glaucoma associated with Stickler syndrome usually responds well to medical treatment. Miotics should be avoided because of the risk of retinal detachment.
Previous
 
 
Contributor Information and Disclosures
Author

Inci Irak Dersu, MD, MPH Associate Professor of Clinical Ophthalmology, State University of New York Downstate College of Medicine; Attending Physician, SUNY Downstate Medical Center, Kings County Hospital, and VA Harbor Health Care System

Inci Irak Dersu, MD, MPH is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society

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.

Martin B Wax, MD Professor, Department of Ophthalmology, University of Texas Southwestern Medical School; Vice President, Research and Development, Head, Ophthalmology Discovery Research and Preclinical Sciences, Alcon Laboratories, Inc

Martin B Wax, MD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, Society for Neuroscience

Disclosure: Nothing to disclose.

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

Andrew I Rabinowitz, MD Director of Glaucoma Service, Barnet Dulaney Perkins Eye Center

Andrew I Rabinowitz, MD is a member of the following medical societies: Aerospace Medical Association, American Academy of Ophthalmology, American Society for Laser Medicine and Surgery, American Academy of Ophthalmology, American Medical Association

Disclosure: Nothing to disclose.

References
  1. Lopes JE, Wilson RR, Alvim HS, Shields CL, Shields JA, Calhoun J, et al. Central corneal thickness in pediatric glaucoma. J Pediatr Ophthalmol Strabismus. 2007 Mar-Apr. 44(2):112-7. [Medline].

  2. Iwach AG, Hoskins HD Jr, Hetherington J Jr, Shaffer RN. Analysis of surgical and medical management of glaucoma in Sturge-Weber syndrome. Ophthalmology. 1990 Jul. 97(7):904-9. [Medline].

  3. Agarwal HC, Sandramouli S, Sihota R, Sood NN. Sturge-Weber syndrome: management of glaucoma with combined trabeculotomy-trabeculectomy. Ophthalmic Surg. 1993 Jun. 24(6):399-402. [Medline].

  4. Kargi SH, Koc F, Biglan AW, Davis JS. Visual acuity in children with glaucoma. Ophthalmology. 2006 Feb. 113(2):229-38. [Medline].

  5. Yang LL, Lambert SR, Lynn MJ, Stulting RD. Surgical management of glaucoma in infants and children with Peters' anomaly: long-term structural and functional outcome. Ophthalmology. 2004 Jan. 111(1):112-7. [Medline].

  6. Allingham R, Damji K, Freedman S, Moroi S, Shafranov G. Developmental glaucomas with associated anomalies. Shields' Textbook of Glaucoma. 5th ed. Philadelphia, PA 19106: Lippincott Williams & Wilkins; 2005. 252-271.

  7. Cantor LB. Glaucoma associated with congenital disorders. Ritch R, ed. The Glaucomas. St Louis: Mosby; 1989. Vol 2: 931-960.

  8. Eibschitz-Tsimhoni M, Lichter PR, Del Monte MA, Archer SM, Musch DC, Schertzer RM, et al. Assessing the need for posterior sclerotomy at the time of filtering surgery in patients with Sturge-Weber syndrome. Ophthalmology. 2003 Jul. 110(7):1361-3. [Medline].

  9. Facts and Comparisons. Drug Facts and Comparisons. St Louis; 1999.

  10. Freedman S, Walton D. Glaucoma in infants and children. Nelson L, Olitsky S, eds. Harley's Pediatric Ophthalmology. 5th ed. Philadelphia, PA 19106: Lippincott Williams & Wilkins; 2005. Chapter 14, 285-304.

  11. Hittner HM. Aniridia. Ritch R, ed. The Glaucomas. St Louis: Mosby; 1989. Vol 2: 869-884.

  12. Kirwan JF, Shah P, Khaw PT. Diode laser cyclophotocoagulation: role in the management of refractory pediatric glaucomas. Ophthalmology. 2002 Feb. 109(2):316-23. [Medline].

  13. Schottenstein EM. Peter's anomaly. Ritch R, ed. The Glaucomas. St Louis: Mosby; 1989. Vol 2.: 897-903.

  14. Shields MB. Axenfeld-Rieger syndrome. Ritch R, ed. The Glaucomas. St Louis, Mo: Mosby; 1989. Vol 2: 885-95.

  15. Singh OS. Nanophthalmos guidelines for diagnosis and therapy. Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology. 2000. Vol 4: 2846-2859.

  16. Walsh J, Muldoon T. Glaucoma associated with retinal vitreoretinal disorders. Ritch R, Shield MB, Krupin T, eds. The Glaucomas. 1996. Vol 2: 1055-1071.

  17. Weiss JS, Ritch R. Glaucoma in the phakomatoses. Ritch R, ed. The Glaucomas. St Louis: Mosby; 1989. Vol 2: 905-29.

  18. Wilson ME, Buckley EG, Kivlin JD. Pediatric Ophthalmology and Strabismus. AAO, Basic and Clinical Science Course. 1998. 6:330-345.

Previous
Next
 
Axenfeld-Rieger syndrome with iris atrophy, corectopia, and pseudopolycoria.
Female patient with plexiform neurofibroma (NF-1). Upper right eyelid involvement, associated with ipsilateral buphthalmos. In Image A (left), patient is aged 8 months; in Image B (right), patient is aged 8 years.
Female infant with Sturge-Weber syndrome. Facial port-wine nevus involves the left eyelid, associated with ipsilateral buphthalmos.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.