Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis

Ferrari, Stefano; Ponzin, Diego; Ashworth, Jane L.; Fahnehjelm, Kristina Teär; Summers, C. Gail; Harmatz, Paul R.; Scarpa, Maurizio
May 2011
British Journal of Ophthalmology;May2011, Vol. 95 Issue 5, p613
Academic Journal
Ocular pathology is common in patients with mucopolysaccharidosis (MPS), a hereditary lysosomal storage disorder, where the eye as well as other tissues accumulate excessive amounts of glycosaminoglycans. Despite genetic and phenotypic heterogeneity within and between different types of MPS, the disease symptoms and clinical signs often manifest during the first 6 months of life with increasing head size, recurrent infections, umbilical hernia, growth retardation and skeletal problems. Typical ocular features include corneal clouding, ocular hypertension/glaucoma, retinal degeneration and optic nerve atrophy. Visual deterioration and sensitivity to light may substantially reduce the quality of life in MPS patients, particularly when left untreated. As an early intervention, haematopoietic stem cell transplantation and/or enzyme replacement therapy are likely to improve patients' symptoms and survival, as well as visual outcome. Thus, it is of utmost importance to ensure proper detection and accurate diagnosis of MPS at an early age. It is of fundamental value to increase awareness and knowledge among ophthalmologists of the ocular problems affecting MPS patients and to highlight potential diagnostic pitfalls and difficulties in patient care. This review provides insight into the prevalence and severity of ocular features in patients with MPS and gives guidance for early diagnosis and follow-up of MPS patients. MPS poses therapeutic challenges in ocular management, which places ophthalmologists next to paediatricians at the forefront of interventions to prevent long-term sequelae of this rare but serious disease.


Related Articles

  • Ocular manifestations as key features for diagnosing mucopolysaccharidoses. Summers, C. Gail; Ashworth, Jane L. // Rheumatology;Dec2011 Supplement 5, Vol. 50 Issue suppl_5, pv34 

    Diagnosis of mucopolysaccharidosis (MPS) requires awareness of the multisystem disease manifestations and their diverse presentation in terms of time of onset and severity. Many patients with MPS remain undiagnosed for years and progressively develop irreversible pathologies, which ultimately...

  • Attenuated mucopolysaccharidosis: are you missing this debilitating condition? Lampe, Christina // Rheumatology;Mar2012, Vol. 51 Issue 3, p401 

    The author offers clinical information on mucopolysaccharidosis (MPS), a rare condition often misdiagnosed because of the perception that this condition is a childhood disease. He explains that patients with attenuated or slow-progressing MPS will often fail to initially receive a correct...

  • Overview of the mucopolysaccharidoses. Muenzer, Joseph // Rheumatology;Dec2011 Supplement 5, Vol. 50 Issue suppl_5, pv4 

    The mucopolysaccharidoses (MPSs) are a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy. The MPSs are heterogeneous, progressive disorders. Patients typically appear normal at birth, but...

  • Differential distribution of heparan sulfate glycoforms and elevated expression of heparan sulfate biosynthetic enzyme genes in the brain of mucopolysaccharidosis IIIB mice. McCarty, Douglas M.; DiRosario, Julianne; Gulaid, Kadra; Killedar, Smruti; Oosterhof, Arie; Van Kuppevelt, Toin H.; Martin, Paul T.; Haiyan Fu // Metabolic Brain Disease;Mar2011, Vol. 26 Issue 1, p9 

    The primary pathology in mucopolysaccharidosis (MPS) IIIB is lysosomal storage of heparan sulfate (HS) glycosaminoglycans, leading to complex neuropathology and dysfunction, for which the detailed mechanisms remain unclear. Using antibodies that recognize specific HS glycoforms, we demonstrate...

  • Diagnosis of the mucopolysaccharidoses. Lehman, Thomas J. A.; Miller, Nicole; Norquist, Becky; Underhill, Lisa; Keutzer, Joan // Rheumatology;Dec2011 Supplement 5, Vol. 50 Issue suppl_5, pv41 

    The mucopolysaccharidoses (MPSs) often present a diagnostic challenge, particularly for patients who have more slowly progressive disease phenotypes, as early disease manifestations can be subtle or non-specific. However, certain types of bone and joint involvement should always prompt...

  • Systemic hypertension and glaucoma: mechanisms in common and co-occurrence. Langman, M. J. S.; Lancashire, R. J.; Cheng, K. K.; Stewart, P. M. // British Journal of Ophthalmology;Aug2005, Vol. 89 Issue 8, p960 

    Aims: To determine whether systemic hypertension and glaucoma might coexist more often than expected, with possible implications for treatment. Methods: Case-control study using general practitioner database of patients with glaucoma matched with controls for age and sex. Results: Hypertension...

  • Looking for Closure? Gurwood, Andrew S. // Review of Optometry;7/15/2011, Vol. 148 Issue 7, p106 

    A quiz concerning the diagnosis of a 57-year-old female with lacrimation and photophobia in her right eye.

  • Back to the Suture. Gurwood, Andrew S. // Review of Optometry;1/15/2013, Vol. 150 Issue 1, p98 

    A quiz related to the diagnosis of an eye disease in a female patient with the complaint of bilateral foreign body sensation and irritation in eyes is presented.

  • Baffling times. Bates, Jane // Nursing Standard;6/16/2010, Vol. 24 Issue 41, p27 

    In the article the author presents an example of a woman who responds positively when her physician is unable to diagnose her unique eye disorder.


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics