Abstract
Importance
This review explores the prevalence, diagnostic challenges, associated comorbidities, and potential complications of early-onset glaucoma in individuals with Stickler syndrome. By addressing these aspects, this review aims to enhance clinical awareness, improve patient outcomes and highlight research opportunities within the paediatric Stickler syndrome population.
Methods and results
Of 185 unique studies, 51 duplicates were removed, leaving 15 studies for analysis. The review included data from 679 patients, of whom 82 were reported as being diagnosed with glaucoma, yielding an overall prevalence of 12.1%. The prevalence was 7.5% in patients aged 0–10 years and remained stable through age 20. It then increased to 18% in patients aged 21–40 years, before slightly decreasing to 16.5% in those over 40. Paediatric patients with Stickler syndrome and glaucoma exhibited a higher risk of cataract (56% vs 22%, OR 4.5, p<0.05) and hearing loss (70% vs 31% OR 5.2, p<0.05) compared with those without glaucoma.
Conclusions
Early identification of clinical signs is critical for effective intervention. Paediatric patients with Stickler syndrome, particularly those with cataract or hearing loss, are at higher risk of glaucoma and, therefore, should be closely monitored, in addition to regular retinal assessments. Given the limitations of this review—including small sample sizes and variable diagnostic methods—larger standardised studies are needed to refine glaucoma prevalence estimates and clinical guidelines for Stickler syndrome.
Keywords: Glaucoma, Genetics, Retina
WHAT IS ALREADY KNOWN ON THIS TOPIC
Glaucoma has been reported in Stickler syndrome, but its prevalence, progression and associated features, especially in paediatric patients, remain unclear.
WHAT THIS STUDY ADDS
This study found a 12.1% prevalence of glaucoma in the overall Stickler syndrome population, with a prevalence of 10.2% specifically in paediatric patients. Additionally, cataracts and hearing loss were identified as risk factors that increase the likelihood of developing glaucoma in paediatric Stickler patients.
HOW THIS STUDY MIGHT AFFECT RESEARCH, PRACTICE OR POLICY
Early glaucoma screening in paediatric Stickler syndrome patients, particularly those with cataract or hearing loss, should be closely monitored alongside routine retinal assessments to prevent vision loss.
Hereditary arthro-ophthalmopathy, or the Stickler syndromes, are genetic disorders of connective tissue characterised by skeletal, orofacial and ocular abnormalities. Stickler syndromes were first characterised by Stickler et al1 and are now known to consist of at least eleven subgroups in addition to related connective tissue disorders (summarised in table 1).2
Table 1. Summary of subtypes that belong to Stickler syndrome2.
| Type(MIM) | Gene associated | Clinical features | Inheritance pattern |
|---|---|---|---|
| Type 1(108300) | COL2A1 | Membranous vitreous, congenital megalophthalmos, arthropathy, deafness, Pierre Robin sequence | Autosomal dominant |
| Type 2(604841) | COL11A1 | Fibrillar or beaded vitreous, otherwise similar to type 1 | Autosomal dominant |
| Type 2 Recessive(TBC) | COL11A1 | Fibrillar or beaded vitreous, otherwise similar to type 1 | Autosomal recessive |
| Type 3(184840) | COL11A2 | No ocular involvement, otherwise similar to type 1 | Autosomal dominant |
| Type 4(614134) | COL9A1 | Sensorineural deafness, myopia, vitreoretinopathy, retinal detachment, epiphysial dysplasia | Autosomal recessive |
| Type 5(614284) | COL9A2 | Sensorineural deafness, myopia, vitreoretinopathy, retinal detachment, epiphysial dysplasia | Autosomal recessive |
| Type 6 (TBC) | COL9A3 | Sensorineural deafness, myopia, vitreoretinopathy, retinal detachment, epiphysial dysplasia | Autosomal recessive |
| Type 7 (TBC) | BMP4 | Hypoplastic vitreous, retinal detachment, deafness, arthropathy, palate abnormality, renal dysplasia | Autosomal dominant |
| Type 8 (TBC) | LOXL3 | Congenital myopia, hypoplastic vitreous, palate abnormality, arthropathy | Autosomal recessive |
| Ocular only (609508) | COL2A1 | Membranous vitreous, retinal detachment, congenital megalophthalmos. No systemic features. | Autosomal recessive |
MIM, Mendelian Inheritance in Man.
The condition affects genes responsible for producing connective tissue. Most cases are caused by defects in type 2 collagen.3 Subtypes of Stickler syndrome follow either an autosomal dominant or recessive inheritance. Although clinical features can vary among affected individuals, typical paediatric presentations include sensorineural hearing loss, craniofacial abnormalities, skeletal abnormalities and ocular pathologies. The approximate prevalence of this syndrome is 1 in 7500 to 9000 newborns.4
Ophthalmologists play a crucial role in diagnosing and managing ocular manifestations of Stickler syndrome, which may include retinal detachment, myopia, cataracts and glaucoma. Glaucoma in Stickler syndrome may fit under several subclassifications according to the Classification of Childhood Glaucoma (CGRN) criteria.5 For patients with no previous cataract surgery or retinal detachment, glaucoma is strictly categorised as secondary childhood glaucoma6 associated with non-acquired systemic disease or syndromes, namely Stickler syndromes. If the onset of glaucoma is less than 3 years of age, the whole eye expands and corneal enlargement with or without Haab’s striae and corneal clouding can occur. With raised intraocular pressure (IOP) beyond the age of 3, this enlargement is not seen. If the underlying Sticklers diagnosis is unknown, then these patients may be mistakenly labelled as primary congenital glaucoma (less than 3 years of age) or juvenile open angle glaucoma (over 3 years of age).
Childhood glaucoma is strictly diagnosed when two or more of the following criteria are met: IOP greater than 21 mm Hg, optic disc cupping, corneal changes (corneal diameter >11 mm or Haab striae), progressive myopia or a reproducible visual field defect. IOP testing can be difficult under age 3, optic nerve examination and imaging difficult under age 6 and field testing unreliable under 8 or even 10 years of age. Therefore, glaucoma diagnosis in young patients often relies on IOP, corneal enlargement, Haab striae and corneal oedema. Examination under anaesthetic may be required, and clinicians must remain vigilant. Clinicians must remain vigilant for other signs that may indicate glaucomatous disease, even in the absence of classic symptoms.
As Stickler patients pass through childhood, the possibility that they will need cataract or retinal detachment repair increases. Glaucoma following childhood cataract surgery is a separate CGRN classification that is then applied. However, the childhood glaucoma classification system fails to include a category for glaucoma that follows surgery for retinal detachment. Such secondary glaucoma can be influenced by the need for scleral buckling, vitrectomy with or without oil, iridectomies and postoperative factors like proliferative vitreoretinopathy and redetachments. The younger the patients the more complicated the retinal surgery due to anatomic factors, as well as to delayed presentations. Additional classification ambiguity arises as angle closure can occur post cataract or retinal surgery.6
Although the prevalence of glaucoma secondary to Stickler syndrome is relatively low, understanding this association is critical for effective glaucoma surveillance in affected individuals. Early identification of primary glaucoma as a clinical sign could improve diagnostic accuracy, enable timely intervention and ultimately enhance visual outcomes.
The pathophysiology of childhood glaucoma secondary to Stickler syndrome is not fully understood. It is believed to result from structural abnormalities and trabecular meshwork dysfunction. Structural changes include shallower anterior chamber and long iris processes. These could cause trabecular meshwork dysfunction or rather be associated with it. Type 1 and 2 collagen is crucial for the development of the trabecular meshwork,7 therefore, dysfunctional type 1 and 2 collagen, as seen in Stickler syndrome, may lead to impaired trabecular function.
This comprehensive review examines the literature regarding prevalence, diagnostic challenges, comorbidities and potential complications associated with paediatric glaucoma in individuals with Stickler syndrome. By addressing these aspects, we aim to raise clinical awareness, improve patient outcomes and identify opportunities for further research in the paediatric population. Additionally, by considering other clinical manifestations of Stickler syndrome, this review seeks to enhance clinicians’ awareness of when to suspect glaucoma. Specifically, this review seeks to (1) systematically evaluate the literature on the occurrence of glaucoma in individuals with Stickler syndrome across different age groups and (2) assess the appearance of clinical manifestations that may guide clinicians of when to suspect glaucomatous Stickler syndrome in paediatric patients.
Methods
Literature search
A comprehensive search was performed in accordance with Preferred Reporting Items for Systemic Reviews and Meta-Analyses (PRISMA) in PubMed, EMBASE, OVID Medline, Web of Science and Scopus databases.A comprehensive review of the literature was performed to determine the copresentation and outcomes of people with Stickler syndrome and paediatric glaucoma (search terms detailed in online supplemental material S1).
The search was limited to literature published in English on human populations, covering the period from the definition of Stickler syndrome in 1964 to August 2024. Initially, articles were screened by assessing their titles and abstracts for relevance. Relevant articles were then read in full and evaluated based on inclusion and exclusion criteria. The inclusion criteria allowed for studies focusing on the prevalence of the copresentation of primary glaucoma and Stickler syndrome in children and related outcomes such as morbidity, visual impairment or clinical features. Exclusion criteria involved removing studies that did not focus on the copresentation of paediatric glaucoma and Stickler syndrome, and studies lacking human subjects, for example, animal studies. Full-text articles that met the criteria were also searched for additional references not discovered in the initial search.
Data analysis
Information relevant to the prevalence of glaucoma was extracted and subdivided into age groups. Paediatric patients were defined as individuals from birth up to 20 years of age, based on the classification used in most of the included studies. All information regarding comorbidities such as myopia, cataracts, retinal detachment and non-ocular/systemic features was collected for the glaucomatous Stickler syndrome population. Glaucoma prevalence was calculated as a simple percentage by dividing the patients with both Stickler syndrome and glaucoma by the number of patients with Stickler syndrome in that age group. Identical calculations were performed to understand the prevalence of comorbidities in the glaucomatous Stickler syndrome population. A Fisher’s exact test was used to determine the differences in glaucoma prevalence by age. We also used this test to evaluate the rate of clinical manifestations between the glaucomatous and non-glaucomatous Stickler syndrome groups.
Results
Literature search
The literature search identified 185 unique studies, with 51 duplicates excluded. Of the 134, 53 were potentially relevant and proceeded to a full-text review. Out of these studies, 38 were excluded for not addressing the copresentation, outcomes or complications associated with Stickler syndrome and glaucoma in the paediatric population. 11 studies on paediatric glaucoma and 4 with unspecified ages provided data on the prevalence of glaucoma in Stickler syndrome8,23 and were included for data extraction (figure 1). Most studies diagnosed Stickler syndrome through genetic testing (n=8, 53%), while others relied on clinical signs, such as retinal detachment, facial dysmorphism, enlarged eyes at birth, and hearing loss (n=5, 33%). One study did not specify the diagnosis method used. The approach to diagnosing glaucoma was not always clearly described. In some articles (n=5, 33%), it was simply noted that an ophthalmological assessment was conducted. Five articles provided more detail, specifying the types of tests performed, such as IOP measurement, gonioscopy, axial length assessment and/or posterior pole evaluation. The remaining five articles did not offer any details on how glaucoma was diagnosed.
Figure 1. PRISMA flow diagram detailing article selection for this review, as per PRISMA guidelines. Generated using Shiny app developed by Haddaway et al.38 PRISMA, Preferred Reporting Items for Systemic Reviews and Meta-Analyses.
Among the 11 articles focused on the paediatric population, 3 were case studies16 18 22 and 1 article was a case series of a family presenting with Stickler syndrome along with other ocular pathologies.9 The seven remaining studies provided data for a total of 134 patients aged 0–10 years, 134 patients aged 11–20 years, 131 patients aged 21–40 years and 103 patients over the age of 40.
Glaucoma in the Stickler syndrome population
A total of 12 articles reported on the prevalence of glaucoma in patients with Stickler syndrome.8,1517 19 Among 679 patients across these studies, 82 were diagnosed with glaucoma, yielding an overall prevalence of 12.1%. While four case studies identified congenital glaucoma in patients with Stickler syndrome, these studies did not provide prevalence data.16 18 22 23
Seven studies that reported glaucoma prevalence stratified by age are illustrated in figure 2 and detailed in online supplemental table S28 10 12 13 17 19 21 In patients aged 0–10 years, the prevalence was 7.5%, and this rate remained stable until the age of 20. The prevalence then increased to 18% in patients aged 21–40 years, followed by a slight decrease to 16.5% in patients older than 40 years. Five additional studies, which did not stratify patients by age, included 169 Stickler syndrome patients, 20 of whom were diagnosed with glaucoma, resulting in an overall prevalence of 11.8% (online supplemental table S3).9 11 14 15 20
Figure 2. Glaucoma prevalence in patients with Stickler syndrome stratified by age. The overall prevalence across ages was 12.2% (n=62/510). *p<0.05; ns, not significant.
Most studies (n=9) did not specify the age at which glaucoma was diagnosed. However, six studies reported age data for 49 patients: of these, 5 patients were diagnosed with congenital or infantile glaucoma before the age of 1, indicating a 10.2% prevalence of paediatric glaucoma.9 10 12 13 19 21 A survey by Stickler et al involving 315 Stickler syndrome patients (ages not defined) found that 7% of patients self-reported developing glaucoma without retinal detachment.17
Comorbidities in the glaucomatous population
Understanding comorbidities in individuals with Stickler syndrome, particularly those with, or at risk of glaucoma, is essential for appropriate monitoring and management. While the studies included in this review did not explore all ocular conditions associated with Stickler syndrome, a summary of the reviewed conditions is provided in table 2. Several studies reported the prevalence of conditions such as myopia,8,1012 16 18 19 21 high myopia,8 10 12 16 18 19 21 22 cataracts,8 12 16 18 19 21 22 retinal detachment,8,1216 18 19 21 22 Pierre Robin Sequence,8 9 16 22 midfacial hypoplasia,8,1216 18 22 cleft palate,8 10 12 16 18 21 22 arthropathy8,1216 18 22 and hearing loss (table 2).8,1216 18 21 22
Table 2. Prevalence of clinical manifestations in glaucomatous Stickler syndrome in paediatric patients.
| Comorbidity | Glaucomatous | Non-glaucomatous |
|---|---|---|
| Myopia | 9/11 (82%) | 78/85 (92%) |
| High myopia† | 8/9 (89%) | 55/83 (66%) |
| Cataract | 5/9 (56%)* | 18/83 (22%) |
| Retinal detachment | 5/11 (45%) | 38/85 (45%) |
| PRS | 3/7 (43%) | 7/31 (23%) |
| Midfacial hypoplasia | 7/10 (70%) | 50/72 (69%) |
| Cleft palate | 6/8 (75%) | 31/67 (46%) |
| Arthropathy | 5/7 (71%) | 25/65 (38%) |
| Hearing loss | 7/10 (70%)* | 19/61 (31%) |
All values are presented as the number of patients with a specific clinical manifestation (numerator) over the total number of patients within each subgroup (denominator). The denominator for each subgroup may vary because not all studies report the same clinical findings for every patient. Patients included are aged 0–20. All ocular comorbidities were included if present in one or both eyes. Bold values indicate statistically significant clinical manifestations, when compared with those without a glaucoma diagnosis
Statistically significant (p<0.05).
High myopia includes patients with refractive error less than −5D in either eye.
PRS, Pierre Robin sequence.
Paediatric patients with glaucoma exhibited a significantly higher likelihood of presenting with cataracts (56% vs 22%, OR 4.5, p=0.0403) or hearing loss (70% vs 31%, OR 5.2, p=0.0308), compared with the non-glaucomatous paediatric group. These findings suggest that clinicians should especially be alert for glaucoma in Stickler syndrome patients who present with cataract or hearing loss (in patients under 20 years of age). Online supplemental Table S4 provides the clinical characteristics of individuals with glaucoma and Stickler syndrome, including the age of diagnosis where available.
Discussion
This study highlights the prevalence of glaucoma in individuals with Stickler syndrome, with a specific emphasis on the paediatric population and associated comorbidities. Our review found a 12.1% prevalence of glaucoma in the overall Stickler syndrome population, with a slightly lower prevalence of 10.2% in paediatric patients (n=5/49 patients). These findings underscore the importance of closely monitoring individuals under 20 years of age with Stickler syndrome for glaucomatous changes.
Previous research has also reported the similar prevalence of glaucoma in the general Stickler syndrome population. Boysen et al found that 11% of patients with Stickler syndrome were diagnosed with glaucoma (40 of 377 patients from 10 studies).24 Similarly, a survey of 315 Stickler syndrome patients reported a 7% prevalence of glaucoma, even in the absence of retinal detachment.17
Glaucoma is a chronic condition that imposes a treatment burden on patients and a significant economic impact, depending on disease severity.25 In the general population, the prevalence of childhood glaucoma is approximately 0.00229% people under the age of 20 in the USA.26 Additionally, the global prevalence of glaucoma in individuals aged 40–80 years is estimated to be 3.54%.27 Given that approximately 1 in 10 individuals with Stickler syndrome will develop glaucoma, determining the age of high risk for glaucomatous changes is crucial for appropriate counselling and management. Our review found a notable increase in glaucoma prevalence (+11.5%) in individuals aged 21–40, compared with younger patients. However, the 7.5% prevalence in paediatric Stickler syndrome patients under 20 years of age should not be overlooked.
It has been suggested that glaucoma in Stickler syndrome often arises as a secondary complication of retinal detachment and proliferative vitreoretinopathy.3 Glaucoma secondary to retinal detachment is frequently documented as a leading cause of glaucoma in Stickler syndrome.28 The prevalence of retinal detachment in Stickler syndrome increases from 26% in individuals aged 10–19 to 61% in those aged 20–40.17 This increase is mirrored by the risk in glaucoma prevalence from 7% to 34% following retinal detachment.17 As such, patients with Stickler syndrome, particularly those who have experienced retinal detachment, should be monitored for ocular hypertension and age-appropriate field and optic nerve examination and imaging. However, this review highlights the incidence of glaucoma in younger Stickler patients most of whom have not had retinal detachment. Thus, abnormalities in trabecular meshwork structure or function alone may contribute to its development.
Cataracts and hearing loss were found to be significantly more common in the paediatric cohort with glaucoma compared with those without. Glaucoma following cataract surgery has been consistently reported as a risk factor for paediatric patients.29,32 While the exact cause remains unclear, factors such as early intraocular lens extraction (before 3 months of age), aphakia and underlying systemic conditions may contribute to the increased risk of glaucoma.30 Additionally, although an inflammatory response to cataract surgery is believed to contribute to angle-closure glaucoma, the mechanism behind open-angle glaucoma remains poorly understood.30 The relationship between glaucoma and hearing loss is also unclear, with conflicting reports in the literature.33 34 Some studies suggest that impaired microvascular circulation, neurodegeneration or mitochondrial dysfunction may contribute to both conditions by affecting the optic nerve and cochlea.33 Additionally, pseudoexfoliation glaucoma has been linked to hearing loss, though findings remain inconsistent, with some studies attributing the association to shared risk factors such as age, male sex and elevated triglyceride levels. However, further research is needed to clarify these mechanisms. Early identification of these clinical features can help reduce the disease burden through prompt diagnosis and management. These findings highlight the importance of early assessment in children with these characteristics, as they may indicate an increased risk of glaucoma in individuals with Stickler syndrome.
The heterogeneity and lack of standardised diagnostic criteria for Stickler syndrome make it challenging to diagnose. The studies in this review used diagnostic approaches, including Snead’s early criteria and genetic testing.35 With increasing uptake of genetic testing, we expect to gain more insights into the diagnosis of Stickler syndrome and polygenic risk associated with its comorbidities.
The current review was limited by small sample sizes in studies reporting the prevalence of glaucoma in Stickler syndrome patients, making it difficult to gauge the accuracy of the data. The studies included in this review were susceptible to bias, as they were either based on a single family or individual (47%), relied solely on clinical findings for diagnosis without genetic testing (27%) or were based on patients’ self-reported diagnoses (7%). Additionally, reporting across studies could be improved. Details such as surgical and medical history, including whether patients had a retinal detachment or underwent cataract surgery, and at what age were mostly omitted. Furthermore, consistent reporting of the age of glaucoma diagnosis would have been valuable. The absence of this information limited our ability to assess comorbidities in the adult population; therefore, we were limited only to the paediatric population, which had clear age of diagnosis within childhood. Given that infantile cataract surgery and other intraocular surgeries increase the risk of glaucoma,32 36 this information is essential for assessing any potential causative effects. Future studies could benefit from an international effort to review medical records from tertiary practices and hospitals.37 Additionally, further longitudinal research with larger, more diverse cohorts is needed to confirm the presence of primary glaucoma in Stickler syndrome and explore its associations with other comorbidities.
The heterogeneity of the study designs included in this review presents a limitation. The approach to diagnosing glaucoma was not consistently detailed, with 33% of articles providing no information, and another 33% diagnosing glaucoma based only on ophthalmological assessment without further specifics. As a result, this review may overestimate the prevalence of glaucoma in the overall Stickler syndrome population. Additionally, most articles did not specify the age at which glaucoma was diagnosed (47%), while 3 articles (20%) mentioned diagnoses occurring in adulthood. These factors may have influenced the reported prevalence. Future studies should establish stricter inclusion criteria for glaucoma diagnosis, and prospective studies should aim to report a standardised method for diagnosing glaucoma.
Stickler syndrome is a degenerative condition with limited diagnostic criteria, often resulting in delayed diagnosis until complications, such as retinal detachment, occur. However, paediatric Stickler patients may not initially present with retinal detachment and are at risk of other ocular complications. This study has found that paediatric Stickler patients may be at an increased risk of glaucoma, particularly in the presence of cataract or hearing loss. Therefore, this prompts consistent monitoring for secondary glaucoma, alongside retinal surveillance. Nonetheless, the studies included in this review exhibit significant limitations and biases in reporting. We recommend more robust documentation of clinical manifestations and diagnoses, as well as detailed medical and surgical histories, to improve our understanding regarding glaucoma in paediatric Stickler syndrome.
Supplementary material
The funders had no involvement in the design, data collection and analysis, or publication of the current study.
Footnotes
Funding: SAG is supported by the Felton Bequest Philanthropic Grant. LA is supported by a National Health and Medical Research Council Investigator Grant (GNT#1195713). RCHD received funding from the Perth Eye Foundation. The Centre for Eye Research Australia wishes to acknowledge the support of the Victorian Government through its Operational Infrastructure Support Program (VIC, Australia). This research received no specific grant from any funding agency in the public, commercial or not-for-profit sectors.
Provenance and peer review: Not commissioned; externally peer reviewed.
Patient consent for publication: Not applicable.
Patient and public involvement statement: There was no patient or public involvement in the design, conduct or dissemination plans of this review article.
Ethics approval: Ethical approval was not required for this study as it is a review article based on previously published literature and does not involve the collection or analysis of new patient data.
Data availability statement
All data relevant to the study are included in the article or uploaded as supplementary information.
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Supplementary Materials
Data Availability Statement
All data relevant to the study are included in the article or uploaded as supplementary information.