SLC7A14 is a cationic amino acid transporter that mediates lysosomal uptake of gamma-aminobutyrate (GABA) and other cationic amino acids 1. The protein is highly expressed in lysosomes of retinal photoreceptors and cochlear inner hair cells, where it functions in nutrient sensing and cellular homeostasis 1. SLC7A14 may act as a GABA sensor regulating mTORC2-dependent insulin signaling and gluconeogenesis, though the complete transport mechanism requires further elucidation. Mutations in SLC7A14 cause autosomal recessive retinitis pigmentosa (arRP), accounting for approximately 2% of arRP cases 2. SLC7A14 is specifically expressed in the mammalian photoreceptor layer, and its expression increases during postnatal retinal development 2. Loss-of-function mutations impair protein trafficking and increase basal autophagy, leading to progressive photoreceptor and inner hair cell degeneration 1. This results in syndromic sensory disease presenting as presynaptic auditory neuropathy and retinitis pigmentosa 1. Additionally, SLC7A14 variants have been identified through genome-wide association studies as candidate genes affecting insulin processing and secretion, with potential relevance to type 2 diabetes risk 3. The phenotypic variability of SLC7A14 mutations, including presentations as both retinitis pigmentosa and Leber congenital amaurosis, demonstrates its critical role in retinal development and visual function 4.