Ocular Manifestations of Albinism Differential Diagnoses
- Author: Mohammed O Peracha, MD; Chief Editor: Hampton Roy Sr, MD more...
Garrod AE. Inborn errors of metabolism. Lecture II. Lancet. 1908;2:73-79.
Giordano F, Simoes S, Raposo G. The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. Proc Natl Acad Sci U S A. Jul 19 2011;108(29):11906-11. [Medline]. [Full Text].
Dijkstal JM, Cooley SS, Holleschau AM, King RA, Summers CG. Change in Visual Acuity in Albinism in the Early School Years. J Pediatr Ophthalmol Strabismus. Jul 6 2011;1-6. [Medline].
Merrill K, Hogue K, Downes S, Holleschau AM, Kutzbach BR, MacDonald JT, et al. Reading acuity in albinism: evaluation with MNREAD charts. J AAPOS. Feb 2011;15(1):29-32. [Medline].
Seo JH, Yu YS, Kim JH, et al. Correlation of visual acuity with foveal hypoplasia grading by optical coherence tomography in albinism. Ophthalmology. Aug 2007;114(8):1547-51. [Medline].
Abadi R, Pascal E. The recognition and management of albinism. Ophthalmic Physiol Opt. Jan 1989;9(1):3-15. [Medline].
Carden SM, Boissy RE, Schoettker PJ, et al. Albinism: modern molecular diagnosis. Br J Ophthalmol. Feb 1998;82(2):189-95. [Medline].
Creel D. Problems of ocular miswiring in albinism, Duane's syndrome, and Marcus Gunn phenomenon. Int Ophthalmol Clin. Spring 1984;24(1):165-76. [Medline].
Creel D, Witkop CJ Jr, King RA. Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies. Invest Ophthalmol. Jun 1974;13(6):430-40. [Medline].
Creel DJ, Summers CG, King RA. Visual anomalies associated with albinism. Ophthalmic Paediatr Genet. Sep 1990;11(3):193-200. [Medline].
Davis PL, Baker RS, Piccione RJ. Large recession nystagmus surgery in albinos: effect on acuity. J Pediatr Ophthalmol Strabismus. Sep-Oct 1997;34(5):279-83; discussion 283-5. [Medline].
François J. Albinism. Ophthalmologica. 1979;178(1-2):19-31. [Medline].
Garner A, Jay BS. Macromelanosomes in X-linked ocular albinism. Histopathology. May 1980;4(3):243-54. [Medline].
Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. Feb 1959;14(2):162-9. [Medline].
Ilia M, Jeffery G. Retinal mitosis is regulated by dopa, a melanin precursor that may influence the time at which cells exit the cell cycle: analysis of patterns of cell production in pigmented and albino retinae. J Comp Neurol. Mar 15 1999;405(3):394-405. [Medline].
Jeffery G. The retinal pigment epithelium as a developmental regulator of the neural retina. Eye. 1998;12 (Pt 3b):499-503. [Medline].
Jeffery G, Schutz G, Montoliu L. Correction of abnormal retinal pathways found with albinism by introduction of a functional tyrosinase gene in transgenic mice. Dev Biol. Dec 1994;166(2):460-4. [Medline].
Kerr R, Stevens G, Manga P, et al. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. Hum Mutat. 2000;15(2):166-72. [Medline].
King RA, Hearing VJ, Creel DJ. Albinism. In: Scriver CR, Beauder AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw Hill; 1995:4353-92.
Kinnear PE, Jay B, Witkop CJ Jr. Albinism. Surv Ophthalmol. Sep-Oct 1985;30(2):75-101. [Medline].
Kriss A, Russell-Eggitt I, Harris CM, et al. Aspects of albinism. Ophthalmic Paediatr Genet. Jun 1992;13(2):89-100. [Medline].
Lyle WM, Sangster JO, Williams TD. Albinism: an update and review of the literature. J Am Optom Assoc. Oct 1997;68(10):623-45. [Medline].
O'Donnell FE Jr, Green WR, Fleischman JA, et al. X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. Arch Ophthalmol. Jul 1978;96(7):1189-92. [Medline].
Oetting WS. Albinism. Curr Opin Pediatr. Dec 1999;11(6):565-71. [Medline].
Oetting WS, Brilliant MH, King RA. The clinical spectrum of albinism in humans. Mol Med Today. Aug 1996;2(8):330-5. [Medline].
Oetting WS, King RA. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat. 1999;13(2):99-115. [Medline].
Oetting WS, Summers CG, King RA. Albinism and the associated ocular defects. Metab Pediatr Syst Ophthalmol. 1994;17(1-4):5-9. [Medline].
Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, et al. The ocular albinism type 1 (OA1) protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Hum Mol Genet. Aug 18 2008;[Medline].
Schiaffino MV, Tacchetti C. The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. Pigment Cell Res. Aug 2005;18(4):227-33. [Medline].
Smith SA, Wong PK, Jan JE. Unilateral alpha reactivity: an electroencephalographic finding in albinism. J Clin Neurophysiol. Mar 1998;15(2):146-9. [Medline].
Spritz RA. Molecular genetics of oculocutaneous albinism. Hum Mol Genet. 1994;3 Spec No:1469-75. [Medline].
Summers CG, Knobloch WH, Witkop CJ Jr, et al. Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology. Apr 1988;95(4):545-54. [Medline].
Weleber RG, Pillers DA, Powell BR, et al. Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness. Arch Ophthalmol. Aug 1989;107(8):1170-9. [Medline].
Witkop CJ Jr, White JG, Nance WE, et al. Classification of albinism in man. Birth Defects Orig Artic Ser. Jun 1971;7(8):13-25. [Medline].

