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P169 Ocular changes in patients with mucopolysaccharidosis of different forms. 5-year experience
  1. SUKHANOVA NV,
  2. NAMAZOVA-BARANOVA LS,
  3. VASHAKMADZE ND,
  4. GEVORKYAN AK,
  5. GUSEVA MR
  1. National Scientific and Practical Centre of Children’s Health

Abstract

Objective To describe ocular changes in patients with mucopolysaccharidosis of different forms.

Materials and methods We analysed the results of 78 children examination (156 eyes) at the age from 1,5 to 18 years, of them 11 children-with MPS I type, 38 children- with the MPS II Hunter, 18 – with the MPS III Sanfilippo, 4 patients with IV type and 6 children with the MPS VI Maroteaux-Lamy. The ophthalmic investigation included visometry, IOP measurement ( noncontact air-puff tonometry), biomicroscopy, ophthalmoscopy, retinoscopy, ERG-method.

Results 78 patients were identified with a diagnosis of mucopolysaccharidosis. The anomaly was bilateral in 78 children. The ocular management of patients with mucopolysaccharidosis of different forms were conservative because of their intellectual impairment. Vision remained stable in 10 patients. Deterioration in other 68 patients was related to progressive corneal clouding and refraction errors, amblyopia. 3 patient were diagnosed with having intraocular pressure–related optic nerve damage. 5 patients had simptoms of ocular hypertension. Other 70 patients had no previous studies of the incidence of ocular hypertension or glaucoma. Biomicroscopy in 36 children with megalocornea, the cornea diameter reached 13 mm and dilation of conjunctiva vessels and thickening of deep layers of cornea were detected. In 16 patients, marked corneal opacity bullous regeneration was seen. Minor changes in pigmentary epithelium and chorioids were detected 24 patients with scleral defect walls and edges. In 26 children, the retina vessels had dilation, wall thickening, and normal pathway. In 68 cases on retinoscopy, astigmatism was detected, high- degree hypermetropia, high-degree amblyopia. The ERG method indicates in 6 patients disfunction of the retina with normal to severe changes. Conclusion: In MPS I macrocornea, corneal clouding,conjunctiva vessels dilation, retinal dystrophy and increase in intraocular pressure were detected. In the MPS-II megalocornea, cornea opacity localising in the cornea deep layers and stroma thickening were observed.Pigmentary rethinopathy and non-recordable ERG, pappiloedema was diagnosed in 7 patients. Mucopolysaccharidosis III is characterised by hypertelorism and proptosis, no changes in retina. In the MPS-IV corneal deposits like ‘dust’, fundus changes in the form of optic disk oedema and secondary optic atrophy were seen. ERG abnormalities were reported in this type of MPS.

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