Retina Society 2026: Retinal detachment rate higher in COL2A1 than COL11A1 Stickler syndrome

At the Retina Society 59th Annual Scientific Meeting, Eileen Hwang, MD, PhD, discussed an individual patient data meta-analysis comparing retinal detachment rates in COL2A1 and COL11A1 Stickler syndrome.

The question arose at Hwang's own institution. Over roughly 15 years, none of its patients with COL11A1 Stickler syndrome had a retinal detachment, whereas several with COL2A1 did.

Higher detachment rate with COL2A1

Pooling patient-level data from published case reports and case series gave the investigators enough patients to compare the 2 genotypes statistically. The retinal detachment rate was 1.78 times higher in COL2A1 Stickler syndrome than in COL11A1 Stickler syndrome (P <.001), with moderate certainty of evidence. Family history explained 29% of the variability in retinal detachment rates. The analysis did not assess detachment characteristics or laterality.

Timing of prophylaxis

Age at retinal detachment did not differ between genotypes. However, 89% of detachments occurred in patients 5 years or older. Hwang said this suggests that treating by age 5 would probably prevent about 90% of detachments. She considers this the most clinically relevant finding, because many patients are diagnosed in infancy.

Prophylaxis for all patients

Hwang recommends prophylactic laser for all patients with Stickler syndrome and makes a stronger case to those with COL2A1 Stickler syndrome or a family history of detachment. "I don't think we need genetic testing to decide whether to recommend prophylaxis," she said, citing benefit shown in 2 recent studies of non-genotyped populations.

She began recommending 360-degree laser routinely after 2 retrospective studies published in 2022, and she does not use cryotherapy. Hwang noted that the true absolute risk remains uncertain, because published studies are subject to referral bias and to bias related to patient age at inclusion.

Closing the referral gap

Hwang said many patients with a known Stickler diagnosis are referred to ophthalmology but not then to retina or pediatric retina for prophylactic laser. She also asks parents to perform monocular vision checks at home, weekly or daily, noting that "monocular vision checks are really valuable" for catching detachments before scarring and proliferative vitreoretinopathy develop.

For general ophthalmologists, she advised genetic testing to rule out Stickler syndrome and retinal dystrophy in children younger than 5 years with significant refractive error, around −3 to −6.

A model for rare disease research

Hwang said a prospective study would not be feasible given the rarity of Stickler syndrome. The investigators emailed the authors of published reports to obtain missing patient-level data. Hwang encouraged wider use of individual patient data meta-analysis to answer questions about rare retinal diseases.