Background: Mucopolysaccharidosis 1 (HURLER'S DISEASE) is a rare, life-threatening, autosomal recessive lysosomal metabolic inborn defect with ocular symptoms.
The goal of this study was to detect and document retinal abnormalities in a Mucopolysaccharidosis type 1 case.
Subjects and Methods: A 12-year-old male child born out of consanguinity was referred to the Ophthalmology OPD at Goa Medical College for evaluation due to impaired vision. He underwent a comprehensive ophthalmological examination.
Fundus-Pseudopapillitis with retinal pigment epithelial changes and hypopigmented lesions in the parafoveal region.
ILM-RPE central subfield thickness: 281m OCT- Increased retinal thickness with GAG buildup in outer retinal layers; ILM-RPE central subfield thickness: 281m
Conclusions: MPS patients should have ophthalmological exams on a frequent basis to diagnose, monitor, and treat ocular issues. During an ophthalmological examination, signs of elevated intracranial pressure, such as papilledema, might be identified. Regular ophthalmological checkups may help to improve the quality of life for these youngsters.
Author (S) Details
Vishaka Devidas Naik
Department of Ophthalmology, Goa Medical College, Bambolim, Goa, India.
Ugam P. S. Usgaonkar
Department of Ophthalmology, Goa Medical College, Bambolim, Goa, India.
Vedvati Hemant Albal
Department of Ophthalmology, Goa Medical College, Bambolim, Goa, India.
View Book :- https://stm.bookpi.org/RDMMR-V5/article/view/4192
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