Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Leber's congenital amaurosis (LCA) is a rare inherited retinal degeneration (IRD) that causes severe vision loss, nyctalopia, and nystagmus within the first few years of life. RPE65 gene mutations cause approximately 6% of LCA cases and have become the target for therapy since voretigene neparvovec-rzyl became the first U.S. Food and Drug Administration-approved gene therapy product for IRDs in 2017. The surgery involves pars plana vitrectomy with subretinal injection of a viral vector that carries a functional copy of the RPE65 gene. Intraoperative optical coherence tomography is a useful adjunctive tool to confirm the injection has reached the subretinal space.
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PMID:Subretinal Injection of Voretigene Neparvovec-rzyl in a Patient With RPE65-Associated Leber's Congenital Amaurosis. 3167 Dec 2

Congenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) characterized by night blindness, photophobia, and nystagmus, and distinctive electroretinographic features. Here, we report bi-allelic RIMS2 variants in seven CRSD-affected individuals from four unrelated families. Apart from CRSD, neurodevelopmental disease was observed in all affected individuals, and abnormal glucose homeostasis was observed in the eldest affected individual. RIMS2 regulates synaptic membrane exocytosis. Data mining of human adult bulk and single-cell retinal transcriptional datasets revealed predominant expression in rod photoreceptors, and immunostaining demonstrated RIMS2 localization in the human retinal outer plexiform layer, Purkinje cells, and pancreatic islets. Additionally, nonsense variants were shown to result in truncated RIMS2 and decreased insulin secretion in mammalian cells. The identification of a syndromic stationary congenital IRD has a major impact on the differential diagnosis of syndromic congenital IRD, which has previously been exclusively linked with degenerative IRD.
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PMID:Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement. 3288 10


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