Authors : Vishaka D. Naik, Ugam P.S. Usgaonkar, Vedvati. H. Albal
DOI : 10.18231/2455-8478.2018.0019
Volume : 4
Issue : 1
Year : 0
Page No : 67-72
Introduction: Mucopolysaccharidosis 1- Hurler’s disease (MPS) is a rare, life threatening, autosomal recessive, inborn error of lysosomal metabolism which is known to have ocular manifestations.
Aim: To identify and document retinal findings in a case of mucopolysaccharidosis type 1.
Subjects and Methods: A male child, 12 years old, born out of consanguinity, was referred to Ophthalmology OPD, Goa Medical College with decreased vision for evaluation. He underwent a detailed ophthalmological examination.
Results: Fundus- showed pseudopapillitis with retinal pigment epithelium changes, and hypopigmented lesions in the parafoveal region. OCT- revealed increased retinal thickness, with accumulation of GAGs in outer retinal layers; ILM-RPE central subfield thickness: 281µm.
Conclusions: Patients with MPS require regular ophthalmological assessment to diagnose, monitor and treat ocular complications. Ophthalmological assessment becomes important because signs of raised intracranial pressure such as papilledema may be picked up. Regular ophthalmological assessments may help to provide a better quality of life in these children.
Keywords: Fundus, Mucopolysaccharidosis, Retina.