ABSTRACT Choroideremia is a rare X-linked chorioretinal dystrophy that may closely resemble retinitis pigmentosa (RP) in its early stages. We describe two brothers who were initially diagnosed with RP and later found to have choroideremia after multimodal imaging and genetic testing. The proband, a 49-year-old man, presented with progressive visual loss, diffuse chorioretinal atrophy, and bone spicule pigmentation. His 51-year-old brother had advanced disease with no light perception. Both displayed fundus autofluorescence and OCT findings typical of choroideremia. A hemizygous […]

ABSTRACT This update article aims to discuss gene therapies under study for retinal diseases, mainly among the different inherited retinal dystrophies. Inherited retinal dystrophies are considered rare diseases, some are ultra-rare. The use of Luxturna, which was approved by the FDA in 2017 and by Anvisa in 2020, changed the natural history of the retinopathy associated with biallelic variants in RPE65 gene and was a major milestone in ophthalmology. There are still many challenges for this new therapeutic modality, which […]

ABSTRACT Congenital stationary night blindness encompasses a heterogeneous group of inherited retinal dystrophies characterized by impaired scotopic vision from birth. This article provides a comprehensive overview of congenital stationary night blindness, focusing on its genetic underpinnings, clinical manifestations, and diagnostic approaches, with a specific emphasis on variants in the CACNA1F gene. Through a detailed case report of a 49-year-old male with congenital stationary night blindness attributed to a hemizygous variant in CACNA1F, we illustrate typical clinical presentations and correlate them […]

ABSTRACT Reticular pigmentary retinal dystrophy, also known as Sjögren’s reticular dystrophy, is a rare condition characterized by macular lesions with a reticular pattern, which are best seen on fluorescein angiogram. Choroidal neovascularization secondary to this type of dystrophy is even less common. This report describes a case of reticular pigmentary retinal dystrophy with vision loss due to neovascular membrane, which responded well to treatment with anti-vascular endothelial growth factor.