| Presentation preference | Poster presentation |
| Title | Pseudoxanthoma elasticum (PXE) retinopathy mimicking serpiginous chorioretinopathy, case report |
| Purpose | This is a case report of a patient with PXE retinopathy and choroidal neovascularisation without pseudoxantoma elasticum skin lesions misinterpreted as serpiginous chorioretinopathy. Insight into previous optical coherence tomography (OCT) and fluorescein angiography (FA) scans performed 8 years ago helped to establish the diagnosis of PXE retinopathy. Gene analysis confirmed a pathogenic variant in the ABCC6 gene. |
| Methods | We describe a patient who was diagnosed with angioid streaks at the age of 32 years and presented to our clinic 8 years later with retinopathy with a serpiginous pattern. Fluorescein angiography (FA), optical coherence tomography (OCT), dermatological examination and genetic analysis were performed to confirm the suspected diagnosis of PXE. Due to lack of skin lesions, skin biopsy was not performed. |
| Results | Fundus autofluorescence (FA) showed a peripapillary serpiginous pattern of hypofluorescence at the BE with hyperfluorescent margins at the RE. FA and ICG confirmed a peripapillary hyporfluorescent and hypocyanescent serpiginous pattern with irregular hyperfluorescence at the margins. Previous OCT and FA documentation performed 8 years ago at another clinic showed typical angioid streaks with acute maculopathy at the BE. As no skin lesions were present, no skin biopsy was performed. Genetic analysis revealed a heterozygous mutation in the ABCC6 gene. |
| Conclusion | An advanced stage of angioid streak retinopathy could be misinterpreted as serpiginous chorioretinopathy. Previous documentation with early stage angioid streaks, skin examination with biopsy and genetic testing should be performed to confirm the diagnosis of PXE. |
| Conflict of interest | No |
Authors 1
| Last name | HURTIKOVA |
| Initials of first name(s) | K |
| Department | Gutblick Augenzentrum |
| City | Aarau |
| Country | Switzerland |
Authors 2
| Last name | Langenegger |
| Initials of first name(s) | S |
| Department | Gutblick Augenzentrum |
| City | Aarau |
| Country | Switzerland |
Authors 3
| Last name | Clare |
| Initials of first name(s) | G |
| Department | Moorfields Eye Hospital |
| City | London |
| Country | United Kingdom |
