Rafael C Caruso
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Explore the profile of Rafael C Caruso including associated specialties, affiliations and a list of published articles.
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29
Citations
846
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Recent Articles
1.
Thavikulwat A, Lopez P, Caruso R, Jeffrey B
Doc Ophthalmol
. 2015 Oct;
131(3):177-88.
PMID: 26474906
Purpose: To define the normal ranges for the slow oscillations (SO) and fast oscillations (FO) of the electro-oculogram (EOG) recorded to International Society for Clinical Electrophysiology of Vision (ISCEV) standards....
2.
Biscette O, Caruso R, Smaoui N, Rubin B, Crawford M, Meltzer M, et al.
Retin Cases Brief Rep
. 2014 Nov;
1(4):232-5.
PMID: 25390987
Purpose: To report variations in the inheritance pattern and clinical presentation of crystalline retinopathies. Methods: Two different families with crystalline retinopathy were studied with a complete family history and ophthalmologic...
3.
Duncan J, Biswas P, Kozak I, Navani M, Syed R, Soudry S, et al.
Ophthalmic Genet
. 2014 Jul;
37(1):44-52.
PMID: 25007332
Background: Characterization of retinal degeneration (RD) using high-resolution retinal imaging and exome sequencing may identify phenotypic features that correspond with specific genetic defects. Materials And Methods: Six members from a...
4.
Levin S, Baker E, Zein W, Zhang Z, Quezado Z, Miao N, et al.
Lancet Neurol
. 2014 Jul;
13(8):777-87.
PMID: 24997880
Background: Infantile neuronal ceroid lipofuscinosis is a devastating neurodegenerative lysosomal storage disease caused by mutations in the gene (CLN1 or PPT1) encoding palmitoyl-protein thioesterase-1 (PPT1). We have previously reported that...
5.
Feuillan P, Ng D, Han J, Sapp J, Wetsch K, Spaulding E, et al.
J Clin Endocrinol Metab
. 2011 Jan;
96(3):E528-35.
PMID: 21209035
Objective: Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder of the primary cilium associated with obesity. In BBS mouse models, ciliary dysfunction leads to impaired leptin signaling and hyperleptinemia before...
6.
Vijayasarathy C, Sui R, Zeng Y, Yang G, Xu F, Caruso R, et al.
Hum Mutat
. 2010 Sep;
31(11):1251-60.
PMID: 20809529
Retinoschisin (RS1) is a cell-surface adhesion molecule expressed by photoreceptor and bipolar cells of the retina. The 24-kDa protein encodes two conserved sequence motifs: the initial signal sequence targets the...
7.
Nichols 2nd L, Alur R, Boobalan E, Sergeev Y, Caruso R, Stone E, et al.
Hum Mutat
. 2010 Jun;
31(6):E1472-83.
PMID: 20513135
Leber congenital amaurosis (LCA) is a congenital retinal dystrophy characterized by severe visual loss in infancy and nystagmus. Although most often inherited in an autosomal recessive fashion, rare individuals with...
8.
Salchow D, Kohlhase J, Miller M, Kadom N, FitzGibbon E, Caruso R, et al.
J Pediatr Ophthalmol Strabismus
. 2010 May;
47(3):187-91.
PMID: 20507004
A female infant with horizontal nystagmus and normal ophthalmic examination had isolated absence of the optic chiasm on magnetic resonance imaging. Eye movements were recorded on video and reviewed. Horizontal...
9.
Caruso R, Aleman T, Cideciyan A, Roman A, Sumaroka A, Mullins C, et al.
Invest Ophthalmol Vis Sci
. 2010 May;
51(10):5304-13.
PMID: 20484585
Purpose: To quantify the retinal disease in Rpe65-deficient mice across a wide age span and compare the results to those in humans with Leber congenital amaurosis (LCA) caused by RPE65...
10.
Bishop R, Ding X, Heller 3rd C, Illei G, Caruso R, Cunningham D, et al.
Retina
. 2010 Mar;
30(8):1272-7.
PMID: 20224467
Purpose: The purpose of this study was to report the clinical and pathologic findings of three cases of rapid vision loss associated with fludarabine toxicity. Methods: A retrospective, single-center case...