Prevention of Blindness in Stickler Syndrome

Abstract

Stickler syndromes are inherited conditions caused by abnormalities of structural proteins in the eye, inner ear and cartilage. The risk of retinal detachment, particularly due to the development of giant retinal tears, is high. Stickler syndrome is the most common cause of childhood retinal detachment. Although retinal detachment surgery in the general population has a high success rate, outcomes from surgical repair in Stickler syndrome patients are notoriously poor, providing a strong argument for prophylactic intervention. Variable case selection, absence of molecular genetic sub-typing and inconsistent treatment strategies have all contributed to the historic uncertainty regarding the safety and efficacy of prophylactic treatment. This paper reviews the major published clinical studies that have evaluated different methods and strategies for prophylaxis. Based on the current body of literature, there is extremely strong evidence from cohort comparison studies demonstrating the efficacy and safety of prophylactic retinopexy to reduce, but not eliminate, the risk of retinal detachment in Stickler syndrome patients. It is vital that this body of evidence is provided to Stickler syndrome patients, to enable them to make their own fully informed choice about whether to receive prophylaxis for themselves and particularly on behalf of their affected children, to reduce the risk of retinal detachment.

Keywords: COL11A1; COL2A1; cryotherapy; giant retinal tear; laser retinopexy; retinal detachment prophylaxis; stickler syndrome.

Figure 1

Prophylactic 360-degree cryoretinopexy in Type 1 Stickler syndrome according to Cambridge Prophylactic Cryotherapy Protocol. White circles show locations of individual cryotherapy applications, which are contiguous with one another and include the ora serrata (red line).

Figure 2

Retinal detachment due to a giant retinal tear in a patient type 1 Stickler syndrome. Note previous laser prophylaxis is too posterior to prevent detachment. Arrow = Giant retinal tear, arrow head = equatorial laser prophylaxis. Reproduced with permission from Snead, MP (2022): Retinal detachment in childhood. Chapter in: Paediatric Ophthalmology and Strabismus 6th Edition. Editors Lyons C & Hoyt C. Elsevier Saunders. In press.

Figure 3

Laser retinopexy to arrest the progression of a giant retinal tear in type 1 Stickler syndrome (no previous prophylaxis). Reproduced with permission from Snead, MP (2022): Retinal detachment in childhood. Chapter in: Paediatric Ophthalmology and Strabismus 6th Edition. Editors Lyons C & Hoyt C. Elsevier Saunders. In press.