Sharola Dharmaraj
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Explore the profile of Sharola Dharmaraj including associated specialties, affiliations and a list of published articles.
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9
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358
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Recent Articles
1.
Tsimpida M, Dharmaraj S, Luthert P, Reddy M, Sagoo M
Retin Cases Brief Rep
. 2019 Dec;
16(2):204-206.
PMID: 31800504
Background: To present a rare retinal disorder that should be considered in the differential diagnosis of retinoblastoma. Methods: A 2-year-old boy presented with left ocular discomfort, leukocoria, and a left...
2.
Sundin O, Dharmaraj S, Bhutto I, Hasegawa T, McLeod D, Merges C, et al.
Ophthalmic Genet
. 2008 Mar;
29(1):1-9.
PMID: 18363166
Background: Nanophthalmos is a genetic disorder characterized by very small, hyperopic eyes that are without gross structural defects. Recessive nanophthalmos is caused by severe mutations in the MFRP gene, which...
3.
den Hollander A, Koenekoop R, Mohamed M, Arts H, Boldt K, Towns K, et al.
Nat Genet
. 2007 Jun;
39(7):889-95.
PMID: 17546029
Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome...
4.
Dharmaraj S, Azar N
Int Ophthalmol Clin
. 2005 Oct;
45(4):61-81.
PMID: 16199967
No abstract available.
5.
Zernant J, Kulm M, Dharmaraj S, den Hollander A, Perrault I, Preising M, et al.
Invest Ophthalmol Vis Sci
. 2005 Aug;
46(9):3052-9.
PMID: 16123401
Purpose: Leber congenital amaurosis (LCA) is an early-onset inherited disorder of childhood blindness characterized by visual impairment noted soon after birth. Variants in at least six genes (AIPL1, CRB1, CRX,...
6.
Sundin O, Leppert G, Silva E, Yang J, Dharmaraj S, Maumenee I, et al.
Proc Natl Acad Sci U S A
. 2005 Jun;
102(27):9553-8.
PMID: 15976030
Nanophthalmos is a rare disorder of eye development characterized by extreme hyperopia (farsightedness), with refractive error in the range of +8.00 to +25.00 diopters. Because the cornea and lens are...
7.
A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis
Silva E, Dharmaraj S, Li Y, Pina A, Carter R, Loyer M, et al.
Ophthalmic Genet
. 2004 Oct;
25(3):205-17.
PMID: 15512997
Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous severe retinal dystrophy presenting in infancy. To explain the phenotypical variability observed in two affected siblings of a consanguineous pedigree...
8.
Dharmaraj S, Leroy B, Sohocki M, Koenekoop R, Perrault I, Anwar K, et al.
Arch Ophthalmol
. 2004 Jul;
122(7):1029-37.
PMID: 15249368
Objectives: To describe the phenotype of Leber congenital amaurosis (LCA) in 26 probands with mutations in aryl hydrocarbon receptor interacting protein-like 1 protein (AIPL1) and compare it with phenotypes of...
9.
Tucker C, Ramamurthy V, Pina A, Loyer M, Dharmaraj S, Li Y, et al.
Mol Vis
. 2004 May;
10:297-303.
PMID: 15123990
Purpose: Recessive mutations in GUCY2D, the gene encoding the retinal guanylyl cyclase protein, RetGC-1, have been shown to cause Leber Congenital Amaurosis (LCA), a severe retinal dystrophy. The purpose of...