Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy
Purpose: To report retinal findings in two patients with mucopolysaccharidosis type I (MPS I) receiving human recombinant alpha-l-iduronidase (Laronidase) as enzyme replacement therapy. Observations: Patient 1 had visual acuity 20/20 right eye, 20/25 left eye and unremarkable anterior segment and re...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2018-03-01
|
| Series: | American Journal of Ophthalmology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993616303097 |
| _version_ | 1818692128084066304 |
|---|---|
| author | Heather G. Mack R.C. Andrew Symons Gerard de Jong |
| author_facet | Heather G. Mack R.C. Andrew Symons Gerard de Jong |
| author_sort | Heather G. Mack |
| collection | DOAJ |
| description | Purpose: To report retinal findings in two patients with mucopolysaccharidosis type I (MPS I) receiving human recombinant alpha-l-iduronidase (Laronidase) as enzyme replacement therapy.
Observations: Patient 1 had visual acuity 20/20 right eye, 20/25 left eye and unremarkable anterior segment and retinal examination. Optical coherence tomography (OCT) scanning demonstrated parafoveal thinning and subfoveal hyperreflectant material. Patient 2 had visual acuity 20/20 both eyes, with dense nuclear cataract both eyes. Retinal examination demonstrated bull's eye maculopathy both eyes. OCT scanning confirmed parafoveal atrophy and demonstrated similar appearing subfoveal hyperreflectant material, more prominent than in case 1.
Conclusions and importance: These two patients with MPS I receiving Laronidase treatment have developed bull's eye maculopathy changes and subfoveal deposition of hyperreflectant material despite excellent compliance and good tolerance of the standard dose of enzyme therapy for this disorder. Further studies are required to determine the nature of the material, the incidence and the effect of enzyme replacement therapy on these findings in patients with MPS I. |
| first_indexed | 2024-12-17T12:52:51Z |
| format | Article |
| id | doaj.art-f9ebc8a62dfe420b8cb673f69487828d |
| institution | Directory Open Access Journal |
| issn | 2451-9936 |
| language | English |
| last_indexed | 2024-12-17T12:52:51Z |
| publishDate | 2018-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj.art-f9ebc8a62dfe420b8cb673f69487828d2022-12-21T21:47:34ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362018-03-019C1610.1016/j.ajoc.2017.10.006Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapyHeather G. Mack0R.C. Andrew Symons1Gerard de Jong2Department of Surgery (Ophthalmology), University of Melbourne, Grattan St, Parkville, Victoria 3052, AustraliaDepartment of Surgery (Ophthalmology), University of Melbourne, Grattan St, Parkville, Victoria 3052, AustraliaMelbourne Health, 300 Grattan St, Parkville, Victoria 3052, AustraliaPurpose: To report retinal findings in two patients with mucopolysaccharidosis type I (MPS I) receiving human recombinant alpha-l-iduronidase (Laronidase) as enzyme replacement therapy. Observations: Patient 1 had visual acuity 20/20 right eye, 20/25 left eye and unremarkable anterior segment and retinal examination. Optical coherence tomography (OCT) scanning demonstrated parafoveal thinning and subfoveal hyperreflectant material. Patient 2 had visual acuity 20/20 both eyes, with dense nuclear cataract both eyes. Retinal examination demonstrated bull's eye maculopathy both eyes. OCT scanning confirmed parafoveal atrophy and demonstrated similar appearing subfoveal hyperreflectant material, more prominent than in case 1. Conclusions and importance: These two patients with MPS I receiving Laronidase treatment have developed bull's eye maculopathy changes and subfoveal deposition of hyperreflectant material despite excellent compliance and good tolerance of the standard dose of enzyme therapy for this disorder. Further studies are required to determine the nature of the material, the incidence and the effect of enzyme replacement therapy on these findings in patients with MPS I.http://www.sciencedirect.com/science/article/pii/S2451993616303097Enzyme replacement therapyScheieMaculaMucopolysaccharidosis type IIduronidase |
| spellingShingle | Heather G. Mack R.C. Andrew Symons Gerard de Jong Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy American Journal of Ophthalmology Case Reports Enzyme replacement therapy Scheie Macula Mucopolysaccharidosis type I Iduronidase |
| title | Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy |
| title_full | Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy |
| title_fullStr | Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy |
| title_full_unstemmed | Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy |
| title_short | Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy |
| title_sort | bull s eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type i patients on long term enzyme replacement therapy |
| topic | Enzyme replacement therapy Scheie Macula Mucopolysaccharidosis type I Iduronidase |
| url | http://www.sciencedirect.com/science/article/pii/S2451993616303097 |
| work_keys_str_mv | AT heathergmack bullseyemaculopathyandsubfovealdepositionintwomucopolysaccharidosistypeipatientsonlongtermenzymereplacementtherapy AT rcandrewsymons bullseyemaculopathyandsubfovealdepositionintwomucopolysaccharidosistypeipatientsonlongtermenzymereplacementtherapy AT gerarddejong bullseyemaculopathyandsubfovealdepositionintwomucopolysaccharidosistypeipatientsonlongtermenzymereplacementtherapy |