Stickler Syndrome -Part 1

Left: Gunnar Stickler, MD; Right: Michael Shapiro, MD.

This post is dedicated to Gunnar B. Stickler

Dr Stickler was born June 13, 1925 and died on November 4, 2010. Stickler syndrome remains an important cause of pediatric (and adult) blindness that can be largely prevented. His landmark paper was HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY. STICKLER GB, BELAU PG, FARRELL FJ, JONES JD, PUGH DG, STEINBERG AG, WARD LE. Mayo Clin Proc. 1965 Jun;40:433-55.  
I had the pleasure to meet him in 2006. In this photograph I am sitting with Dr Stickler. 
I want to extend a special thank you to Stickler Involved People (SIP) for inviting me to their conference.

A RetCam photograph of a Stickler Disease eye in a young boy at presentation.  It shows a long-standing Giant Retinal Tear with a scrolled edge is seen on the left side and fixed folds around a funnel detachment with a hazy view.  This Giant Retinal Tear is complicated by Proliferative Vireoretinopathy.

Two weeks ago I repaired the retina of a child with clinical stickler disease who had a long standing Giant Retinal Tear and severe PVR. He is pretty typical for about 25% of the cases in children under 12 years of age and probably a larger percentage in even younger kids. They loose their vision but do not really know that it is something to report because it is painless and they can use the other eye. At some point the blind eye will come to the parents attention. In some cases, a minor injury may raise the question about the vision or cause pain that leads to an examination. In other cases, the detached retina cases the eye to degenerate with a cataract, redness and irritation or reduction in size with a drooping lid. Any of these late complications may also bring parental attention to the eye. Late complications usually indicate a poor prognosis for visual recovery.

I did the surgery and the retina has attached, but the vision is very poor because of the long period of detachment. The retina had a retinal cyst which is bad. I hope for improvement, but the general prognosis for this eye is quite guarded.

Fixing a retinal detachment of this sort is challenging and there are some technical issues of interest to retinal surgeons. However, the two major issues regarding Stickler Disease are first, diagnosis and second, prevention.

The biggest worry is the second eye. It has a risk of retinal detachment in the range of 50-70% which is astronomical when compared with the .01% risk in the general population. I prescribed a treatment with laser for prophylaxis.

I perform the prophylactic laser treatment from the ora serrata in a near confluent manner for about 8-12 rows. I will also treat through and around lattice. However, in truth the manner of the prophylaxis remains unresolved. Martin Snead has argued for the superiority of cryotherapy in his important paper on Prophylaxis. Unfortunately, I found his argument unpersuasive. I believe that regardless of the modality that produces the chorioretinal adhesion the key element is treatment to the full circumference from the ora serrata extending posterior and not to areas of lattice alone. Since there is a high rate of giant retinal tears and these are generally not associated with the lattice pathology, it is no surprise that the lattice treatment approach would fail using either cryotherapy or laser. In the past I have also used scleral buckle with good success. Bottom line, A randomized trial would be helpful, but while we would like strong evidence (rather than strong opinion) to determine the best approach, prophylaxis is indicated and Dr Stickler agreed with this in my short conversation with him.

I do not think that treatment is without risk or that it prevents detachment in all cases, rather the risk of 7% bad outcome is better that 70%. Nontheless there remains a large group of ophthalmologists who do not treat preventatively. In adults, they can monitor the eyes for symptoms and perhaps they can get in quickly often before the visual potential is lost. I think regardless of the personal position that the physician must present the opportunity for treatment and ideally a copy of the Snead Paper (Alan Ang, Arabella V. Poulson, Sandy F. Goodburn, Allan J. Richards, John D. Scott, Martin P. Snead, Retinal Detachment and Prophylaxis in Type 1 Stickler Syndrome, Ophthalmology, Volume 115, Issue 1, January 2008, Pages 164-168) After prophylaxis, I still monitor the patient on a 3-4 month basis.

Even more important than the controversy about prophylaxis is the sad situation in which some Ophthalmologist have never heard of this condition and even some Pediatric Ophthalmologists and Retina Specialists remain confused about Stickler Disease. Their patients go undiagnosed and untreated. Pediatric Ophthalmologists and Geneticists need to identify these patients and send them to experienced retinal specialists. My favorite summary about Stickler Disease is in the NIH GeneReviews.  Also another useful resource is Genetics Home Reference.  I will need to write more later about this very important topic, so I will call this part 1.