RBP3-retinopathy - inherited high myopia and retinal dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping

The RBP3 gene encodes for the interstitial retinoid binding protein (IRBP; OMIM: 180290), a glycoprotein expressed by photoreceptors and the pineal gland.1 Expression of IRBP by rod and cone photoreceptors is transactivated by the transcription factor cone-rod homeobox (CRX).2 CRX is a well-established gene associated with retinal dystrophy.3 IRBP is the most abundant protein found in the interphotoreceptor space, the extracellular space between the photoreceptor outer segments and the retinal pigment epithelium (RPE).

Source: American Journal of Ophthalmology - October 6, 2023 Category: Opthalmology Authors: Michalis Georgiou, Kaoru Fujinami, Anthony G. Robson, Yu Fujinami-Yokokawa, Ahmed F. Shakarchi, Marco H. Ji, Sami H. Uwaydat, Angela Kim, Masha Kolesnikova, Gavin Arno, Nikolas Pontikos, Omar A. Mahroo, Stephen H. Tsang, Andrew R. Webster, Michel Michaeli Tags: Original Articles Source Type: research