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

The authors describe a rare artifact on two different spectral-domain optical coherence tomography (OCT) systems and explain its origin in patient- rather than hardware-related errors. During evaluation on spectral-domain OCT, four patients registered twin foveal depressions on the retinal thickness map display and were initially unable to fixate on the given target. Repeat scans on the same OCT system without changing scan protocol demonstrated no artifact after the patients began to fixate well, except in one patient who had nystagmus. Fundus and autofluorescence evaluation revealed no true duplication of fovea. Performing a repeat scan with greater focus on patient compliance is necessary when such artifactual anomalies are encountered.
Ophthalmic Surg Lasers Imaging Retina
PMID:Foveal duplication artifact with spectral-domain optical coherence tomography. 2341 Aug 16

Foveal hypopalsia (FH) is typically seen in association with diseases like albinism and aniridia, and familial FH (FFH) is very rare. The authors present a case of unique association of FH with dyschromatosis universalis hereditaria (DUH). Family members of this patient had history of nystagmus and dermal pigmentary anomalies, suggesting that this may represent FFH with DUH in X-linked pattern. The authors also discuss the role of pigment anomalies in manifesting as this combination. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:192-195.].
Ophthalmic Surg Lasers Imaging Retina 2019 03 01
PMID:A Rare Case of Foveal Hypoplasia With Dyschromatosis Universalis. 3089 55

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.
Ophthalmic Surg Lasers Imaging Retina 2019 10 01
PMID:Subretinal Injection of Voretigene Neparvovec-rzyl in a Patient With RPE65-Associated Leber's Congenital Amaurosis. 3167 Dec 2