Article Text

PDF

Spontaneous involution of autologous lenses and phacoanaphylaxis reaction in Stickler syndrome
  1. I Habil1,
  2. E Cohen1,
  3. I Karshai1,
  4. D BenEzra1,3,
  5. F Behar-Cohen2,3
  1. 1Pediatric Ophthalmology Unit, Hadassah Hebrew University, Jerusalem, Israel
  2. 2Rothschild Ophthalmic Foundation, Paris, France
  3. 3U598, INSERM, Paris, France
  1. Correspondence to: David BenEzra MD, PhD, Hadassah Hebrew University Hospital, POB 12000 Jerusalem, Israel; benezramd.huji.ac.il

Statistics from Altmetric.com

Stickler syndrome is a “hereditary progressive arthro-ophthalmopathy”1 caused in the majority of cases by mutations of the COL2A1 gene encoding for type II collagen.2 The disease is transmitted as an autosomal dominant trait with high penetrance but variable expressivity.3 Most common ocular manifestations of the disease are myopia, vitreous veils and degeneration, early cataract, retinal peripheral breaks and retinal detachment.3,4

Case report

This patient had typical ocular and extraocular clinical manifestations of Stickler syndrome. She was fitted with contact lenses (−17.00 dioptres) at the age of 1 month. Despite the relatively poor vision, hearing impairment and skeletal problems, she developed well mentally and attended regular school. With glasses (−15.00) the visual acuity (VA) was stable, around 6/21 (20/75) for distance and J2 for near in both eyes.

A mild central opacity of the posterior lens capsule was initially observed in both eyes when she was 7 years old (fig 1A). The IOP was 12 mm Hg, the corneas clear, anterior chambers deep and devoid of any inflammatory signs. Fundus examination disclosed no changes from previous examinations (fig 1B). Refraction and VA in both eyes remained unchanged.

Figure 1

 (A) Mild opacity of the lens posterior capsule of the right eye initially observed at the age of 7 years. (B) Appearance of the fundus demonstrating the retinal pigmentary changes in the periphery and retinal degenerative changes within the posterior pole. (C) Marked opacification and fusion of the lens capsules in the right eye observed at 9 years of age. (D) Mild capsule opacities are still observed 2 years later, at 11 years of age. The refractive error at this stage is +1.25 and the visual acuity for distance is 6/12 (20/40).

On 23 June 2002, at the age of 9 years, she complained of blurred vision in the right eye. Without glasses, VA for distance was 6/60 (20/200) and for near less than J16. Involution of the lens material with marked opacity of the fused capsules was detected (fig 1C). Accurate retinoscopy was not possible. No intraocular inflammatory signs were observed.

On 23 May 2004, the right eye lens opacities reabsorbed. Mild posterior capsule opacity remains (fig 1D). VA without correction was 6/12 (20/40) and J10. Refraction disclosed +1.25 D. The left eye VA and myopia remained unchanged.

Six weeks later sudden pain, redness, and loss of vision in the left eye occurred. A high IOP of 60 mm Hg, hazy cornea, mutton fat keratic precipitates with flare 3+ and cells 4+ were observed in the left eye anterior chamber. She was treated with corticosteroids and antiglaucoma drops. Two weeks later, a central tear of the posterior capsule with large cortical remnants within the capsular bag (fig 2A) and a multitude of floating lens remnants with a granulomatous inflammatory reaction were observed in the vitreous (fig 2B). Following complete arrest of the inflammatory processes and a return to normal of the IOP, medical treatment was discontinued 5 weeks after its initiation.

Figure 2

 (A) Large cortical remnants are seen within the capsular bag remnant in the left eye with an intense flare and many inflammatory cells. The cornea is still mildly hazy 2 weeks after the phacoanaphylactic reaction. (B) The vitreous of the left eye is hazy with many cortical lens remnants observed with transillumination at the slit lamp. (C) Right eye is quiet, the refractive error is +1.25, and the uncorrected visual acuity 6/12 (20/40) despite the presence of mild lens capsule opacities. (D) Left eye is also quiet showing the same characteristics as the right eye.

At her last visit on 21 November 2004, both eyes were quiet. Only mild scattered lens capsule opacities were detected in both eyes (figs 2C and 2D). The VA without correction was 6/12 (20/40) and J10 in both eyes. With correction (+1.25) for distance and near addition (+3.00), the VA in both eyes was 6/9 (20/30) and J1 respectively. Multifocal glasses were prescribed.

Comment

A quiet and uneventful involution of the autologous lens occurred in the right eye when the child was 9 years old. The mechanism of this phenomenon is unclear and may be associated with abnormalities of the lens collagen and/or crystallines. The lens involution in the right eye was not associated with any noticeable symptom but for a drop in vision. Progressive clearing of the lens opacity was followed by emmetropisation of the initial refractive error and visual improvement in the left eye. Two years later, spontaneous involution of the lens in the other eye was associated with a marked intraocular granulomatous inflammatory reaction (“granulomatous uveitis”) reminiscent of a phacoanaphylaxis reaction. This acute reaction was, most probably, associated with the “escape” of immune tolerance towards the autologous lens antigens.

We are not aware of previous reports in the literature describing similar ocular phenomena.

References

View Abstract

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.