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Ocular System

Iridocorneal endothelial (ICE) syndrome

Rare ocular disorder that includes a group of conditions characterized by proliferative & structural abnormalities of the corneal endothelium, progressive obstruction of the iridocorneal angle, and iris anomalies (atrophy and hole formation).

Rare ocular disorder that includes a group of conditions characterized by proliferative & structural abnormalities of the corneal endothelium, progressive obstruction of the iridocorneal angle, and iris anomalies (atrophy and hole formation).

  • Usually diagnosed in women in the adult age.

History:

In 1903 Harms extensively described a rare ocular condition characterized by iris atrophy and glaucoma, known as “progressive essential iris atrophy”. Five decades later, Chandler described a rare, unilateral ocular condition characterized by iris atrophy associated with corneal endothelial alterations, corneal edema, and glaucoma. Subsequently, it was suggested that this “Chandler syndrome” and the “progressive essential iris atrophy” are two different forms of the same disease. When Cogan and Reese described a similar condition associated with iris nodules, a third clinical entity was identified and subsequently named “iris nevus” or “Cogan-Reese syndrome”. Subsequent studies confirmed that these clinical entities show similar history and clinical findings and share the same pathogenic mechanisms characterized by an abnormal proliferation of corneal endothelium and the unifying term of “iridocorneal endothelial syndrome” was suggested by Yanoff.

Pathophysiology

It comprises a spectrum of three clinical entities: progressive essential iris atrophy, Cogan-Reese syndrome, and Chandler syndrome.

Progressive essential iris atrophy:

Characterized by marked iris atrophy and hole(s) formation
Two patients with essential iris atrophy showing extensive iris atrophy and peripheral anterior synechiae (a, b) and corneal edema (b). | Sacchetti, M., Mantelli, F., Marenco, M., Macchi, I., Ambrosio, O., & Rama, P. (2015). Diagnosis and Management of Iridocorneal Endothelial Syndrome. BioMed research international, 2015, 763093. https://doi.org/10.1155/2015/763093

Chandler syndrome:

Corneal edema
A patient with Chandler syndrome and glaucoma in her right eye showing moderate corneal edema (a), polycoria (b), and peripheral anterior synechiae. She underwent trabeculectomy 7 years earlier. Visual acuity in the right eye was 0.2 decimal units. | Sacchetti, M., Mantelli, F., Marenco, M., Macchi, I., Ambrosio, O., & Rama, P. (2015). Diagnosis and Management of Iridocorneal Endothelial Syndrome. BioMed research international, 2015, 763093. https://doi.org/10.1155/2015/763093

Cogan-Reese syndrome:

Presence of multiple iris nodules, hence also known as iris nevus syndrome

Clinical features

  • Change in the shape/position of pupil
  • Impairment of visual function: Blurred vision and/or halos around lights or reduction in visual acuity (due to glaucoma)

Diagnosis

Slit-lamp examination:

  • Fine, “hammered-silver” or “beaten-bronze” appearance of the endothelium
  • Changes of corneal endothelium
Representative pictures of anterior segment findings seen in patients clinically suspected to have ICE syndrome (a) small patch of iris atrophy (yellow arrow) with slight corectopia (white arrow) (b) multiple patches of iris atrophy with corectopia (c) ectropion uvea with a distorted pupil (d and e) iris atrophy, iris holes and severe corectopia (f) diffuse corneal edema with iris details visible faintly (g) broad PAS seen on gonioscopy (yellow arrow) (h) “hammered silver” appearance of endothelium seen on slit lamp biomicroscopy (white arrow) | Malhotra, C., Seth, N. G., Pandav, S. S., Jain, A. K., Kaushik, S., Gupta, A., Raj, S., & Dhingra, D. (2019). Iridocorneal endothelial syndrome: Evaluation of patient demographics and endothelial morphology by in vivo confocal microscopy in an Indian cohort. Indian journal of ophthalmology, 67(5), 604–610. https://doi.org/10.4103/ijo.IJO_1237_18

In vivo confocal microscopy (IVCM):

High resolution imaging technique that represents a useful diagnostic tool in ICE syndrome, also in patients with corneal edema.
  • Presence of “ICE-cells” on the corneal endothelium and the structural changes of the anterior chamber angle
Representative in vivo confocal microscopy images showing (a) ICE – variant of endothelial cells (large cells with widely spaced yet centrally placed hyperreflective nuclei) (b) ICE + variant of endothelial cells (smaller cells with more tightly packed, eccentrically placed hyper reflective nuclei) | Malhotra, C., Seth, N. G., Pandav, S. S., Jain, A. K., Kaushik, S., Gupta, A., Raj, S., & Dhingra, D. (2019). Iridocorneal endothelial syndrome: Evaluation of patient demographics and endothelial morphology by in vivo confocal microscopy in an Indian cohort. Indian journal of ophthalmology, 67(5), 604–610. https://doi.org/10.4103/ijo.IJO_1237_18

Ultrasound biomicroscopy (UBM):

Detection of changes of the anterior chamber angle structures in ICE syndrome, especially in the presence of corneal edema that does not allow gonioscopy visualization

Differential diagnosis:

  • Corneal endothelial disorders:
    • Posterior polymorphous dystrophy (PPCD)
    • Fuchs endothelial dystrophy
  • Iris disorders:
    • Axenfeld-Rieger syndrome
    • Iris melanoma
    • Inflammatory iris nodules
    • Aniridia

Management

Final therapeutic target is the prevention and management of the visual impairing complications, namely, corneal edema and glaucoma.

Topical antiglaucomatous medications

First line of treatment, since a reduction in intraocular pressure can also improve corneal edema
  • Suppressants of aqueous humor production:
    • Topical beta blockers
    • Alpha agonists
    • Carbonic anhydrase inhibitors
  • Miotics

Corneal surgery

To improve visual function and reduce pain.
  • Penetrating keratoplasty (PK)
  • Descemet stripping with endothelial keratoplasty (DSEK)

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