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Items: 1 to 20 of 121

1.

Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision.

Kubal A, Dagnelie G, Goldberg M.

J AAPOS. 2009 Dec;13(6):610-2. doi: 10.1016/j.jaapos.2009.09.015.

PMID:
20006830
2.

Clinical Insights Into Foveal Morphology in Albinism.

McCafferty BK, Wilk MA, McAllister JT, Stepien KE, Dubis AM, Brilliant MH, Anderson JL, Carroll J, Summers CG.

J Pediatr Ophthalmol Strabismus. 2015 May-Jun;52(3):167-72. doi: 10.3928/01913913-20150427-06.

3.

Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography.

Chong GT, Farsiu S, Freedman SF, Sarin N, Koreishi AF, Izatt JA, Toth CA.

Arch Ophthalmol. 2009 Jan;127(1):37-44. doi: 10.1001/archophthalmol.2008.550.

PMID:
19139336
4.

Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

Khordadpoor-Deilamani F, Akbari MT, Karimipoor M, Javadi G.

Mol Vis. 2015 Jul 10;21:730-5. eCollection 2015.

5.

Correlation of visual acuity with foveal hypoplasia grading by optical coherence tomography in albinism.

Seo JH, Yu YS, Kim JH, Choung HK, Heo JW, Kim SJ.

Ophthalmology. 2007 Aug;114(8):1547-51. Epub 2007 Mar 6.

PMID:
17337060
6.

Isolated foveal hypoplasia: clinical presentation and imaging findings.

Karaca EE, Çubuk MÖ, Ekici F, Akçam HT, Waisbourd M, Hasanreisoğlu M.

Optom Vis Sci. 2014 Apr;91(4 Suppl 1):S61-5. doi: 10.1097/OPX.0000000000000191.

PMID:
24637485
7.

Concentric macular rings sign in patients with foveal hypoplasia.

Cornish KS, Reddy AR, McBain VA.

JAMA Ophthalmol. 2014 Sep;132(9):1084-8. doi: 10.1001/jamaophthalmol.2014.1715.

PMID:
24945710
8.

[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].

Sanabria D, Groot H, Guzmán J, Lattig MC.

Biomedica. 2012 Jun;32(2):269-76. doi: 10.1590/S0120-41572012000300015. Spanish.

9.

Foveal depression and albinism.

Harvey PS, King RA, Summers CS.

Ophthalmology. 2008 Apr;115(4):756; author reply 756-7. doi: 10.1016/j.ophtha.2007.11.006. No abstract available.

PMID:
18387418
10.

Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1)

Lam BL, Fingert JH, Shutt BC, Singleton EM, Merin LM, Brown HH, Sheffield VC, Stone EM.

Ophthalmic Genet. 1997 Dec;18(4):175-84. Erratum in: Ophthalmic Genet 1998 Sep;19(3):173.

PMID:
9457748
11.

The functional significance of foveal abnormalities in albinism measured using spectral-domain optical coherence tomography.

Mohammad S, Gottlob I, Kumar A, Thomas M, Degg C, Sheth V, Proudlock FA.

Ophthalmology. 2011 Aug;118(8):1645-52. doi: 10.1016/j.ophtha.2011.01.037. Epub 2011 May 12.

PMID:
21570122
12.

A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

Hutton SM, Spritz RA.

Invest Ophthalmol Vis Sci. 2008 Mar;49(3):868-72. doi: 10.1167/iovs.07-0791.

PMID:
18326704
13.

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.

Fukai K, Holmes SA, Lucchese NJ, Siu VM, Weleber RG, Schnur RE, Spritz RA.

Nat Genet. 1995 Jan;9(1):92-5.

PMID:
7704033
14.

'Congenital' nystagmus may hide various ophthalmic diagnoses.

Holmström G, Bondeson ML, Eriksson U, Åkerblom H, Larsson E.

Acta Ophthalmol. 2014 Aug;92(5):412-6. doi: 10.1111/aos.12250. Epub 2013 Jul 29.

15.

Diagnosis of oculocutaneous albinism with molecular analysis.

Summers CG, Oetting WS, King RA.

Am J Ophthalmol. 1996 Jun;121(6):724-6.

PMID:
8644824
16.

Variable expression of vision in sibs with albinism.

Summers CG, Creel D, Townsend D, King RA.

Am J Med Genet. 1991 Sep 1;40(3):327-31.

PMID:
1951438
17.

Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism.

Sepúlveda-Vázquez HE, Villanueva-Mendoza C, Zenteno JC, Villegas-Ruiz V, Pelcastre-Luna E, García-Aguirre G.

Int Ophthalmol. 2014 Oct;34(5):1075-81. doi: 10.1007/s10792-014-9912-1. Epub 2014 Feb 14.

PMID:
24526317
18.
19.

Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography.

Meyer CH, Lapolice DJ, Freedman SF.

Am J Ophthalmol. 2002 Mar;133(3):409-10.

PMID:
11860983
20.

A girl with Hermansky-Pudlak syndrome.

Suzuki T, Ohga H, Katayama T, Egi K, Fujiwara H, Mizushima M.

Acta Ophthalmol (Copenh). 1991 Apr;69(2):256-60.

PMID:
1872148

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