A Case Report of Retinal Changes in Mucopolysaccharidosis I

Background: Mucopolysaccharidosis 1- HURLER’S DISEASE 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: With impaired vision, a 12-year-old male child born out of consanguinity was referred to the Ophthalmology OPD at Goa Medical College for assessment. He had a thorough ophthalmological examination.

Results: Fundus-Pseudopapillitis with alterations in the retinal pigment epithelium and hypopigmented lesions in the parafoveal area.

OCT- Increased retinal thickness, with accumulation of GAGs in outer retinal layers; ILM-RPE central subfield thickness: 281µm

Conclusions: Ophthalmological evaluations are required for MPS patients on a regular basis in order to identify, monitor, and treat ocular problems. Signs of increased intracranial pressure, such as papilledema, may be detected during an ophthalmological examination. Regular ophthalmological examinations may aid in improving these children's quality of life.