8.1.2   Prophylaxis for Retinal Detachment - Stickler Syndrome

Stickler syndrome (SS) is a dominantly inherited connective tissue disease which can affect the eye, ear, orofacial and skeletal systems. A minority have no family history from a de novo mutation.[1] Timely diagnosis offers the opportunity for prophylactic treatment to prevent rhegmatogenous retinal detachment (RRD). This chapter summarises patient selection, timing and prophylactic techniques.

Snead MP, McNinch AM, Poulson AV, et al. Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. Eye (Lond) 2011;25(11):1389-1400.

Current standard of care for SS includes a molecular diagnosis, based on variants in collagen type II, IX and XI genes, achievable in over 96% of patients tested.[2] Systemic features are supportive but not essential for the diagnosis. The majority (80%) are due to COL2A1 mutations known as type 1 SS.[2] SS may present with early-onset myopia, glaucoma, wedge shaped cataract or incidental perivascular lattice degeneration. Untreated, up to 50% develop RRD and 70-80% of these are bilateral, typically from giant retinal tears (GRT) in the 2nd and 3rd decade. These can often be associated with proliferative vitreoretinopathy (PVR) requiring multiple operations. When RRD occurs in one eye, 80% will develop RRD in the fellow eye after a median of 4 years.[2] Therefore, all molecularly confirmed SS should be offered RRD prophylaxis.

While RRD typically presents between 10 to 30 years, RRD can occur as young as 6 weeks of age. The risk of general anaesthetic in a child with Pierre Robin sequence should be considered when planning bilateral prophylactic treatment. Fellow eye prophylactic treatment should be strongly recommended when repairing RRD. Given RRD can develop even in those over the age of 50, prophylaxis should be offered to SS adults of any age. Mean age at prophylaxis in the largest case series was 10-15 years (range 10 months - 50 years).2 Although some clinicians only perform prophylactic laser on patients with COL2A1 mutations evidence from Linton et al.[3] suggests type 2 SS should also be treated. In patients with COL11A1 mutations, Linton et al.[3] found the RRD rate was 40% with no prophylactic laser as compared to 15% with prophylactic laser.

Fincham GS, Pasea L, Carroll C, et al. Prevention of retinal detachment in stickler syndrome. the cambridge prophylactic cryotherapy protocol. Ophthalmology 2014;121(8):1588-1597.

Linton E, Jalil A, Sergouniotis P, Moussa G, Black G, Charles S, Ivanova T. Laser prophylaxis in Stickler Syndrome: the Manchester Protocol. Retina 2023;43(1):88-93.

Prophylactic treatments aim to strengthen retinal-retinal pigment epithelial (RPE) adhesions through cryotherapy or laser photocoagulation at the ora serrata. The Cambridge (England) protocol stipulates a 360° transconjunctival contiguous single row of cryotherapy spots at the junction of retina with the pars plana. The Manchester (England) protocol requires 3-4 rows of laser posterior to the ora serrata 360°.[3] The laser should include circumferential lattice but not radial lattice that extends posterior to the equator. The Chicago (US) protocol, also known as extended vitreous base laser (EVBL), advocates laser burns ½ to 1 spot size apart to cover the retina between the ora and the equator.[4] Lattice lesions posterior to the equator are not treated.

All rights reserved. No part of this publication which includes all images and diagrams may be reproduced, distributed, or transmitted in any form or by any means, including photocopying, recording, or other electronic or mechanical methods, without the prior written permission of the authors, except in the case of brief quotations embodied in critical reviews and certain other noncommercial uses permitted by copyright law.

Westmead Eye Manual
This invaluable open-source textbook for eye care professionals summarises the steps ophthalmologists need to perform when examining a patient.


Website by WebInjection