Detailed retinal phenotype of Boucher-Neuh äuser syndrome associated with mutations in PNPLA6 mimicking choroideremia.

Conclusions: PNPLA6-associated retinal degenerations can present with predominantly retinal findings and subtle systemic abnormalities and should be considered in the differential diagnosis of diffuse chorioretinal atrophies. PMID: 31135245 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research