Anterior segment OCT imaging in mucopolysaccharidoses type I, II, and VI

Abstract

Purpose To describe the anterior segment optical coherence tomography (AS-OCT) characteristics of patients with ocular manifestations of mucopolysaccharidoses type I (Hurler), II (Hunter), and VI (Maroteaux-Lamy). Methods Prospective, observational study of nine consecutive patients with variants of mucopolysaccharidosis (MPS) attending the Paediatric Ophthalmology service at Manchester Royal Eye Hospital, UK. All patients underwent Visante AS-OCT imaging as part of their ophthalmic assessment. Results Ocular involvement tended to be symmetrical. Angle-to-angle distance was significantly lower in MPS VI than in MPS I (P ¼ 0.04). Anterior chamber depth, angle opening distance, trabecular-iris space area, and scleral spur angle tended to be lower in MPS VI than in MPS I, but did not reach statistical significance. Corneal thickness in the central 0-2 mm zone was greater in MPS VI than in MPS I, approaching but not attaining statistical significance (P ¼ 0.07). The 2-5 and 5-7 mm zones were significantly thicker in MPS VI than MPS I (P ¼ 0.04, P ¼ 0.04). There was no difference in corneal thickness between MPS I and MPS VI in the peripheral 7-10 mm zone (P ¼ 0.57). Measurements of the patient with MPS II resembled the mean values of the MPS I group. Conclusion AS-OCT is valuable in quantifying anterior segment pathology in MPS. It suggests more crowded anterior segments and greater corneal thickness in patients with MPS VI than MPS I. AS-OCT is useful in evaluating the risk and mechanism of glaucoma in MPS patients, and may improve our assessment of the efficacy of systemic treatment.

Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis

“…The ocular response analyser, where available, may be used to assess corneal hysteresis, leading to a more reliable measurement of IOP (Fahnehjelm et al 2012a,b). Both ultrasound biomicroscopy and anterior segment OCT may be helpful to assess the anterior chamber angle (Ahmed et al 2014), while the latter technique may also be applied to assess corneal thickness. In addition, posterior segment OCT or ultrasound of the optic nerve can be alternatives for ophthalmoscopy to assess optic disc appearance in patients with MPS.…”

“…Corneal clouding may be present from an early age in MPSI and VI (Ashworth et al 2006;Ferrari et al 2011;. Open-angle glaucoma may be caused by GAG deposits within the trabecular meshwork, causing outflow obstruction, while angle-closure glaucoma may result from changes in anterior segment morphology as a result of GAG accumulation (Ahmed et al 2014). The current literature describes small numbers of MPS patients with glaucoma from single treatment centres with incomplete clinical details, including patients with MPS I (Quigley et al 1975;Spellacy et al 1980;Nowaczyk et al 1988;Mullaney et al 1996), MPS II (Kaiden et al 1982), MPS IV (Cahane et al 1990) and MPS VI (Cantor et al 1989).…”

Multimodal imaging of Hurler syndrome-related keratopathy treated with deep anterior lamellar keratoplasty

“…In our patient, SD-OCT showed diffuse hyperreflectivity, uniformly distributed across the entire corneal thickness and associated with increased CCT. Ahmed et al [ 12 ] found OCT to be useful in mucopolysaccharidosis for assessing CCT and anatomy of the iridocorneal angle. Age-dependent increase in CCT was reported in all mucopolysaccharidosis.…”

Children with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplants

“…Anterior OCT demonstrated open anterior chambers in most of the subjects’ eyes and no iris cysts were found. Anterior OCT was reported to be reliable for measuring the iridocorneal angles and covered a good section of the cornea, despite opacities . According to the literature, the anterior chambers can be more shallow than normal in MPS I .…”