History

Patients with albinism usually present in early infancy and generally will have any of the following symptoms:

Skin, hair, and eye discoloration are caused by abnormalities of melanin metabolism. However, this might not be as obvious in patients with ocular albinism.
Photophobia
Decreased vision due to foveal hypoplasia, high refractive error, and/or nystagmus
Strabismus due to abnormal decussation of optic nerve fibers
Nystagmus - Earlier onset of nystagmus correlates with degree of foveal hypoplasia.
History of easy bruising or recurrent infections in patients with Hermansky-Pudlak syndrome and Chediak-Higashi syndrome, respectively
Decreased hearing associated with some forms of X-linked ocular albinism

Physical

All children with nystagmus should be evaluated for foveal hypoplasia and transillumination defects. Patients with subtle external pigment changes may be misdiagnosed with congenital motor nystagmus if these signs are missed.

Most patients with albinism generally have a combination of the physical findings discussed below.

Most patients with oculocutaneous albinism have obvious hair and skin discoloration. The range of skin and hair colors can vary depending on the type of albinism. Patients with ocular albinism usually have almost normal skin and hair color, but they tend to have lighter skin and hair color than their siblings, especially in darker skin populations.

The color of the iris usually is blue but can vary from blue to brown. Almost all patients have iris transillumination defects, which can be seen with direct or retroillumination at the slit lamp.

Visual acuity usually is decreased and can range from 20/40 to 20/400. Refractive errors are common and can be either myopic or hyperopic.

Patients usually have monocular vision and poor stereopsis secondary to abnormalities of the optic pathways. Patients have an increased amount of crossed nerve fibers in the optic chiasm. Patients have abnormal retinogeniculostriate projection; many of the temporal hemiretinal nerve fibers decussate rather than project to the ipsilateral geniculate body. Strabismus generally is seen and is mostly esotropic in nature. A pendular type of nystagmus is present.

Foveal hypoplasia with an absent foveal reflex is almost universal,^[7]and the ophthalmoscopic signs of macular and foveal hypoplasia include the following:

Absence of foveal reflex
Absence of yellow macula lutea pigment
Absence of normal hyperpigmentation of foveal pigment epithelium
Failure of retinal vasculature to wreathe the fovea

The fundus, in general, is hypopigmented. Female carriers of X-linked albinism can have macular pigmentary mottling as well as abnormal pigmentation of the peripheral fundus.

McCafferty et al noted that, while foveal hypoplasia is the hallmark of albinism, its morphology and development can be quite variable.^[8]

Causes

Albinism is a hereditary condition. No apparent conditions seem to predispose a person to develop albinism.

Differential Diagnoses

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. 2011 Jul 19. 108(29):11906-11. [QxMD MEDLINE Link]. [Full Text].
Tsang SH, Sharma T. X-linked Ocular Albinism. Adv Exp Med Biol. 2018. 1085:49-52. [QxMD MEDLINE Link].
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. 2011 Jul 6. 1-6. [QxMD MEDLINE Link].
Merrill K, Hogue K, Downes S, Holleschau AM, Kutzbach BR, MacDonald JT, et al. Reading acuity in albinism: evaluation with MNREAD charts. J AAPOS. 2011 Feb. 15(1):29-32. [QxMD MEDLINE Link].
De Filippo E, Schiedel AC, Manga P. Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. J Invest Dermatol. 2017 Feb. 137 (2):457-465. [QxMD MEDLINE Link].
Brücher VC, Heiduschka P, Grenzebach U, Eter N, Biermann J. Distribution of macular ganglion cell layer thickness in foveal hypoplasia: A new diagnostic criterion for ocular albinism. PLoS One. 2019. 14 (11):e0224410. [QxMD MEDLINE Link].
McCafferty BK, Wilk MA, McAllister JT, Stepien KE, Dubis AM, Brilliant MH, et al. Clinical Insights Into Foveal Morphology in Albinism. J Pediatr Ophthalmol Strabismus. 2015 May-Jun. 52 (3):167-72. [QxMD MEDLINE Link].
Filloux FM, Hoffman RO, Viskochil DH, Jungbluth H, Creel DJ. Ophthalmologic features of Vici syndrome. J Pediatr Ophthalmol Strabismus. 2014 Jul 1. 51 (4):214-20. [QxMD MEDLINE Link].
Seo JH, Yu YS, Kim JH, et al. Correlation of visual acuity with foveal hypoplasia grading by optical coherence tomography in albinism. Ophthalmology. 2007 Aug. 114(8):1547-51. [QxMD MEDLINE Link].
Rossi S, Testa F, Gargiulo A, Di Iorio V, Pierri RB, D'Alterio FM, et al. The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report. Case Rep Ophthalmol. 2012 Jan. 3(1):113-7. [QxMD MEDLINE Link]. [Full Text].
Meyer CH, Lapolice DJ, Freedman SF. Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography. Am J Ophthalmol. 2002 Mar. 133(3):409-10. [QxMD MEDLINE Link].
Sepúlveda-Vázquez HE, Villanueva-Mendoza C, Zenteno JC, Villegas-Ruiz V, Pelcastre-Luna E, García-Aguirre G. Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism. Int Ophthalmol. 2014 Oct. 34 (5):1075-81. [QxMD MEDLINE Link].
Sheth V, Gottlob I, Mohammad S, McLean RJ, Maconachie GD, Kumar A, et al. Diagnostic Potential of Iris Cross-sectional Imaging in Albinism Using Optical Coherence Tomography. Ophthalmology. 2013 May 29. [QxMD MEDLINE Link].
Cornish KS, Reddy AR, McBain VA. Concentric macular rings sign in patients with foveal hypoplasia. JAMA Ophthalmol. 2014 Sep. 132 (9):1084-8. [QxMD MEDLINE Link].
Prins D, Hanekamp S, Cornelissen FW. Structural brain MRI studies in eye diseases: are they clinically relevant? A review of current findings. Acta Ophthalmol. 2015 Sep 11. [QxMD MEDLINE Link].
Mohammad S, Gottlob I, Sheth V, Pilat A, Lee H, Pollheimer E, et al. Characterization of Abnormal Optic Nerve Head Morphology in Albinism Using Optical Coherence Tomography. Invest Ophthalmol Vis Sci. 2015 Jul. 56 (8):4611-8. [QxMD MEDLINE Link].
Schulze Schwering M, Kumar N, Bohrmann D, Msukwa G, Kalua K, Kayange P, et al. Refractive errors, visual impairment, and the use of low-vision devices in albinism in Malawi. Graefes Arch Clin Exp Ophthalmol. 2015 Apr. 253 (4):655-61. [QxMD MEDLINE Link].
Gangwe AB, Parchand SM, Azad RV, Agrawal D, Bhatia P. Successful treatment of aggressive posterior retinopathy of prematurity with diode laser in ocular albinism: A case report. Indian J Ophthalmol. 2019 Jun. 67 (6):962-964. [QxMD MEDLINE Link].
Sinha MK, Chhablani J, Shah BS, Narayanan R, Jalali S. Surgical challenges and outcomes of rhegmatogenous retinal detachment in albinism. Eye (Lond). 2016 Mar. 30 (3):422-5. [QxMD MEDLINE Link].
Farahi A, Hashemi H, Mehravaran S. Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism. J Cataract Refract Surg. 2015 Nov. 41 (11):2438-43. [QxMD MEDLINE Link].
Abadi R, Pascal E. The recognition and management of albinism. Ophthalmic Physiol Opt. 1989 Jan. 9(1):3-15. [QxMD MEDLINE Link].
Carden SM, Boissy RE, Schoettker PJ, et al. Albinism: modern molecular diagnosis. Br J Ophthalmol. 1998 Feb. 82(2):189-95. [QxMD MEDLINE Link].
Creel D. Problems of ocular miswiring in albinism, Duane's syndrome, and Marcus Gunn phenomenon. Int Ophthalmol Clin. 1984 Spring. 24(1):165-76. [QxMD MEDLINE Link].
Creel D, Witkop CJ Jr, King RA. Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies. Invest Ophthalmol. 1974 Jun. 13(6):430-40. [QxMD MEDLINE Link].
Creel DJ, Summers CG, King RA. Visual anomalies associated with albinism. Ophthalmic Paediatr Genet. 1990 Sep. 11(3):193-200. [QxMD MEDLINE Link].
Davis PL, Baker RS, Piccione RJ. Large recession nystagmus surgery in albinos: effect on acuity. J Pediatr Ophthalmol Strabismus. 1997 Sep-Oct. 34(5):279-83; discussion 283-5. [QxMD MEDLINE Link].
François J. Albinism. Ophthalmologica. 1979. 178(1-2):19-31. [QxMD MEDLINE Link].
Garner A, Jay BS. Macromelanosomes in X-linked ocular albinism. Histopathology. 1980 May. 4(3):243-54. [QxMD MEDLINE Link].
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. 1959 Feb. 14(2):162-9. [QxMD MEDLINE Link].
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. 1999 Mar 15. 405(3):394-405. [QxMD MEDLINE Link].
Jeffery G. The retinal pigment epithelium as a developmental regulator of the neural retina. Eye. 1998. 12 (Pt 3b):499-503. [QxMD MEDLINE Link].
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. 1994 Dec. 166(2):460-4. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
King RA, Hearing VJ, Creel DJ. Albinism. 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. 1985 Sep-Oct. 30(2):75-101. [QxMD MEDLINE Link].
Kriss A, Russell-Eggitt I, Harris CM, et al. Aspects of albinism. Ophthalmic Paediatr Genet. 1992 Jun. 13(2):89-100. [QxMD MEDLINE Link].
Lyle WM, Sangster JO, Williams TD. Albinism: an update and review of the literature. J Am Optom Assoc. 1997 Oct. 68(10):623-45. [QxMD MEDLINE Link].
O'Donnell FE Jr, Green WR, Fleischman JA, et al. X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. Arch Ophthalmol. 1978 Jul. 96(7):1189-92. [QxMD MEDLINE Link].
Oetting WS. Albinism. Curr Opin Pediatr. 1999 Dec. 11(6):565-71. [QxMD MEDLINE Link].
Oetting WS, Brilliant MH, King RA. The clinical spectrum of albinism in humans. Mol Med Today. 1996 Aug. 2(8):330-5. [QxMD MEDLINE Link].
Oetting WS, King RA. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat. 1999. 13(2):99-115. [QxMD MEDLINE Link].
Oetting WS, Summers CG, King RA. Albinism and the associated ocular defects. Metab Pediatr Syst Ophthalmol. 1994. 17(1-4):5-9. [QxMD MEDLINE Link].
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. 2008 Aug 18. [QxMD MEDLINE Link].
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. 2005 Aug. 18(4):227-33. [QxMD MEDLINE Link].
Smith SA, Wong PK, Jan JE. Unilateral alpha reactivity: an electroencephalographic finding in albinism. J Clin Neurophysiol. 1998 Mar. 15(2):146-9. [QxMD MEDLINE Link].
Spritz RA. Molecular genetics of oculocutaneous albinism. Hum Mol Genet. 1994. 3 Spec No:1469-75. [QxMD MEDLINE Link].
Summers CG, Knobloch WH, Witkop CJ Jr, et al. Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology. 1988 Apr. 95(4):545-54. [QxMD MEDLINE Link].
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. 1989 Aug. 107(8):1170-9. [QxMD MEDLINE Link].
Witkop CJ Jr, White JG, Nance WE, et al. Classification of albinism in man. Birth Defects Orig Artic Ser. 1971 Jun. 7(8):13-25. [QxMD MEDLINE Link].

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Mohammed O Peracha, MD Associate Physician, Midwest Eye Center

Mohammed O Peracha, MD is a member of the following medical societies: American Academy of Ophthalmology

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Frances M Cosgrove, MD Resident Physician, Department of Ophthalmology, Indiana University School of Medicine

Frances M Cosgrove, MD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology

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Enrique Garcia-Valenzuela, MD, PhD Clinical Assistant Professor, Department of Ophthalmology, University of Illinois Eye and Ear Infirmary; Consulting Staff, Vitreo-Retinal Surgery, Midwest Retina Consultants, SC, Parkside Center

Enrique Garcia-Valenzuela, MD, PhD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Retina Specialists, Association for Research in Vision and Ophthalmology, Retina Society, Society for Neuroscience

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Dean Eliott, MD Associate Director, Retina Service, Massachusetts Eye and Ear Infirmary, Harvard Medical School

Dean Eliott, MD is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association

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Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

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J James Rowsey, MD Former Director of Corneal Services, St Luke's Cataract and Laser Institute

J James Rowsey, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American Medical Association, Association for Research in Vision and Ophthalmology, Florida Medical Association, Sigma Xi, The Scientific Research Honor Society, Southern Medical Association, Pan-American Association of Ophthalmology

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Chief Editor

Hampton Roy, Sr, MD † Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

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Additional Contributors

Kilbourn Gordon, III, MD, FACEP Urgent Care Physician

Kilbourn Gordon, III, MD, FACEP is a member of the following medical societies: American Academy of Ophthalmology, Wilderness Medical Society

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Sections Ocular Manifestations of Albinism
Overview
Presentation
- History
- Physical
- Causes
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Workup
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Ocular Manifestations of Albinism Clinical Presentation

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Causes

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