Pseudoxanthoma elasticum and retinitis pigmentosa: dual diagnosis of recessive conditions with ophthalmological consequences.

Conclusions This report highlights an interesting case of two unrelated autosomal recessive diseases presenting in one person, both of which have the potential to manifest with ophthalmological symptoms and signs. Though it is likely that only one condition has caused the ophthalmological findings in this case, it raises the question of how we can distinguish the causative disease when two conditions are present that have a shared target organ. PMID: 32646269 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research