Related Experiment Video
Updated: Sep 10, 2026
Retinal Detachment Model in Rodents by Subretinal Injection of Sodium Hyaluronate
Published on: September 11, 2013
Clinical Features, Retinal Detachment Rates, and Retinal Detachment Prophylaxis in Patients with Genetically
Prethy Rao1, Emmanuel Chang1, Emily Spoth2
1Retina and Vitreous of Texas, Houston, Texas.
Purpose:
Knobloch syndrome (KS) is a rare autosomal recessive condition characterized by lack of functional collagen type XVIII (COL18A1), occipital defects, high myopia, and vitreoretinal degeneration. The purpose is to (1) report clinical/systemic features, (2) retinal detachment (RD) rates, and (3) the role of RD prophylaxis in a US-based genetically confirmed cohort.
Design:
Retrospective, nonrandomized multicenter case cohort.
Subjects:
Genetically confirmed Knobloch patients from 12 US -based pediatric retina tertiary referral centers.
Main Outcome Measures:
Baseline characteristics, RD rates, RD risk with or without a history of prophylactic treatment.
Results:
A total of 72 eyes (36 patients) were included. Mean follow-up was 5.2 years. Fourteen patients (38.9%) were women. Most common systemic features included (1) occipital defects (n = 17 [47.2%]), (2) intracranial abnormalities (n = 10 [27.8%]; polymicrogyria, plagiocephaly, cortical dysplasia, encephalomalacia, periventricular heterotopia), and (3) skin (n = 5 [13.9%]); hemangioma, eczema). Mean ± SE refractive error was -9.85 (range, -20.12 to +7.50). Eighteen eyes (25.0%) had cataracts, 16 (20.0%) iris defects (transillumination defects, absent crypts, pupillary membrane), 40 (57.1%) optically empty/vitreous condensations, and 64 of 70 eyes (91.4%) had macular abnormalities ranging from tessellated fundus to generalized macular atrophy. Of 72 eyes, 23 (31.9 %) experienced an RD, including 12 (52.2%) at baseline. Two eyes (8.7%) had a concurrent macular hole. Mean age at RD was 6.24 years and RD time was 18.6 months (0 to 86). Twenty eyes (87.0%) underwent RD surgery (laser, scleral buckle [SB], pars plana vitrectomy [PPV], or PPV + SB). Single-surgery and final anatomic success were 60% and 85%. Twenty-one of 72 eyes (29.2%) received laser or SB prophylaxis - only 2 of which (9.0%) developed an RD. Age-adjusted generalized estimating equation logistic model demonstrated lower odds of RD in eyes that received prophylaxis than not (odds ratio 0.20; P = 0.022). Four of 19 fellow eyes (21%) developed an RD (n = 1 with previous RD prophylaxis). There was a nonsignificant lower odds of RD in fellow eyes that received RD prophylaxis versus no prophylaxis (odds ratio = 0.42; P = 0.41).
Conclusions:
In genetically confirmed KS, RD rates are high, and RD prophylaxis reduced odds of RD. Early diagnosis and prophylaxis may play a preventive role in this population.
Financial Disclosure(S):
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
