Ask about this productRelated genes to: LCA5 antibody
- Gene:
- LCA5 NIH gene
- Name:
- lebercilin LCA5
- Previous symbol:
- C6orf152
- Synonyms:
- -
- Chromosome:
- 6q14.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-02-23
- Date modifiied:
- 2019-01-21
Related products to: LCA5 antibody
Related articles to: LCA5 antibody
- Source: PubMed
- To characterize an asymptomatic carrier of ocular albinism without a known family history of visual impairment. Chart review of the patient's medical records. Genetic testing revealed a deletion of exon 3 in her gene (LCA5 c.1273 deletion). The patient showed characteristics of heterozygous carrier status for alterations, including linear pigmentary changes in the fundus. This case is notable for the absence of a known family history of visual impairment and may represent a sporadic deletion. Further studies are needed to examine genetic variants and deletions with ocular albinism type 1. - Source: PubMed
Publication date: 2025/10/31
Flynn ErinCheela IshaKaden Talia R - We assessed the preliminary safety of a recombinant adeno-associated virus serotype 8 vector carrying the native human LCA5 cDNA (OPGx-001) in LCA5-associated Leber congenital amaurosis (LCA5-LCA), a congenital blindness. This phase 1b/2a trial (NCT05616793) is a nonrandomized, single ascending, dose-escalation study. Three subjects with LCA5-LCA (ages 19, 26, and 34 years old) received uniocular subretinal injections of 1E10 vector genome per eye of OPGx-001. There were no serious adverse events related to OPGx-001 or the procedure. Retinal microstructure by spectral-domain optical coherence tomography showed no major changes in retinal lamination of the treated central retina compared with the contralateral control. Efficacy was detectable in these severely affected patients by subjective and objective methods at 1-month post-treatment and persisted for at least 12 months. Chromatic full-field stimulus testing showed improvements in cone-mediated vision averaging ∼1 log unit. Objective pupillometry confirmed perceptual results. Improvements were associated with better performance on a virtual reality orientation and mobility test. Visual acuity returned to baseline or improved in the treated eyes of all participants. The favorable safety profile and efficacy outcomes pave the path for enrolling milder phenotypes with careful dose escalation. - Source: PubMed
Publication date: 2025/07/01
Aleman Tomas SUyhazi Katherine ERoman Alejandro JWeber Mariejel LO'Neil Erin CSwider MalgorzataSumaroka AlexanderMaguire Katherine HAleman Elena MSantos Arlene JKim Rebecca JParchinski Kelsey MBillek AndrewFradin MakaylaChung WilliamMargaritis ParisSun JunweiScoles Drew HWu VivianGarafalo Alexandra VJayagopal AshwathYerxa BenTuller SarahMaguire Albert MBennett JeanCideciyan Artur V - - Source: PubMed
Publication date: 2025/05/19
Athanasiou DimitraAfanasyeva Tess A VChai NiuzhengZiaka KalliopiJovanovic KatarinaGuarascio RosellinaBoldt KarstenCorral-Serrano Julio CKanuga NaheedRoepman RonaldCollin Rob W JCheetham Michael E - This study investigated how clinical and genetic factors impact the effectiveness of orthokeratology lenses in myopia. - Source: PubMed
Publication date: 2025/03/17
Xia RuijingYu XiangyiWu HaoPeng LuluDu ZhenlinYu XiaoguangXing ShilaiLu FanMao Xinjie