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Ocular Manifestations of Albinism Workup

  • Author: Mohammed O Peracha, MD; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Nov 05, 2015
 

Laboratory Studies

Oculocutaneous albinism and ocular albinism are primarily clinical diagnoses.

The tyrosinase hair bulb incubation test is a simple test that can differentiate between tyrosinase-negative and tyrosinase-positive forms of albinism. Hair bulbs from a patient with albinism are incubated with tyrosine in a test tube. Hair bulbs from tyrosinase-positive patients demonstrate some degree of pigment production, while those from tyrosinase-negative patients have no pigment production. Since most of the albino phenotypes are tyrosinase positive, this test provides limited information in determining the exact type of albinism.

Simple blood clotting tests can be performed if Hermansky-Pudlak syndrome is suspected. The clotting parameters are reduced in patients with this disease because of defective platelets.

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Imaging Studies

The visual-evoked potential (VEP) may be used to help confirm the diagnosis of albinism. Patients with albinism show an asymmetry of VEP between the 2 eyes secondary to misrouting of the optic pathways. This makes VEP a very accurate diagnostic test for albinism.

In a study of 13 patients, Seo and colleagues used optical coherence tomography (OCT) to develop a grading system based on foveal hyporeflectivity, the degree of choroidal transillumination, the presence of a tram-tract sign, and foveal depression.[7] They found that these measurements correlated with the visual prognosis.[7]

Macular OCT can be helpful in making a diagnosis of atypical cases of oculocutaneous albinism as reported by Rossi et al.[8] According to authors, OCT showed high reflectivity across the fovea without foveal depression in an atypical case of oculocutaneous albinism and helped in making the correct diagnosis. These OCT findings are a typical pattern for oculocutaneous albinism.[9]

In a study by Sepúlveda-Vázquez et al, spectral-domain optical coherence tomography (SD-OCT) showed development of inner retinal layers in the fovea, abnormality of the Henle layer, and lack of thickening in the perifoveal area.[10]

Anterior segment OCT can also be used to detect iris abnormalities associated with albinism and can help in making the diagnosis and evaluating the intensity of albinism, as reported by Sheth et al.[11]

A concentric macular ring sign can be seen via infrared reflectance, as reported by Cornish et al.[12]

Prins et al noted that MRI can help in determining the structural changes in brain and visual pathways and can also help as a diagnostic tool and in development of future treatment modalities.[13]

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Other Tests

Light microscopy of the blood smear can be performed in patients suspected of having Chediak-Higashi syndrome. The blood smear from these patients shows neutrophils with large inclusions.

Even though not routinely performed, electron microscopic study of the skin or the hair bulbs is probably the best diagnostic method for albinism.

Even though still not widely available, gene sequence analysis can be performed to differentiate between various forms of albinism.

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Procedures

A skin biopsy can be performed to make the diagnosis of albinism in cases that are not clinically obvious. Skin biopsy also is helpful to determine the female carrier state in cases of X-linked ocular albinism.

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Histologic Findings

Histologic evaluation of the skin, hair, and eyes from patients with oculocutaneous albinism reveals a generalized absence of melanin pigment. There is also an absence of foveal differentiation and generalized deficiency of retinal pigment. Lipidlike deposits can be present in ciliary and iris epithelia. In addition, abnormal melanin macroglobules are present in melanocytes. These macroglobules are present not only in the iris, ciliary epithelium, and retinal pigment epithelium but also in dermal melanocytes. These macroglobules are also present in the skin biopsy of carrier females of X-linked ocular albinism. (It should be emphasized here that, even though the subdivision of albinism into oculocutaneous and ocular forms is helpful to the clinician, it is not entirely accurate histopathologically. All forms of ocular albinism involve, to a small degree, cutaneous pigment abnormalities.) Patients with Hermansky-Pudlak syndrome have a ceroidlike material present in their tissues.

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Contributor Information and Disclosures
Author

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

Disclosure: Nothing to disclose.

Coauthor(s)

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, Association for Research in Vision and Ophthalmology, American Society of Retina Specialists, Retina Society, Society for Neuroscience

Disclosure: Nothing to disclose.

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

Disclosure: Nothing to disclose.

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Disclosure: Received salary from Medscape for employment. for: Medscape.

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, Southern Medical Association, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

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

Disclosure: Nothing to disclose.

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

Disclosure: Nothing to disclose.

References
  1. Garrod AE. Inborn errors of metabolism. Lecture II. Lancet. 1908. 2:73-79.

  2. 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. [Medline]. [Full Text].

  3. 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. [Medline].

  4. 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. [Medline].

  5. 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. [Medline].

  6. 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. [Medline].

  7. 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. [Medline].

  8. 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. [Medline]. [Full Text].

  9. 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. [Medline].

  10. 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. [Medline].

  11. 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. [Medline].

  12. Cornish KS, Reddy AR, McBain VA. Concentric macular rings sign in patients with foveal hypoplasia. JAMA Ophthalmol. 2014 Sep. 132 (9):1084-8. [Medline].

  13. 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. [Medline].

  14. 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. [Medline].

  15. Abadi R, Pascal E. The recognition and management of albinism. Ophthalmic Physiol Opt. 1989 Jan. 9(1):3-15. [Medline].

  16. Carden SM, Boissy RE, Schoettker PJ, et al. Albinism: modern molecular diagnosis. Br J Ophthalmol. 1998 Feb. 82(2):189-95. [Medline].

  17. Creel D. Problems of ocular miswiring in albinism, Duane's syndrome, and Marcus Gunn phenomenon. Int Ophthalmol Clin. 1984 Spring. 24(1):165-76. [Medline].

  18. 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. [Medline].

  19. Creel DJ, Summers CG, King RA. Visual anomalies associated with albinism. Ophthalmic Paediatr Genet. 1990 Sep. 11(3):193-200. [Medline].

  20. 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. [Medline].

  21. François J. Albinism. Ophthalmologica. 1979. 178(1-2):19-31. [Medline].

  22. Garner A, Jay BS. Macromelanosomes in X-linked ocular albinism. Histopathology. 1980 May. 4(3):243-54. [Medline].

  23. 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. [Medline].

  24. 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. [Medline].

  25. Jeffery G. The retinal pigment epithelium as a developmental regulator of the neural retina. Eye. 1998. 12 (Pt 3b):499-503. [Medline].

  26. 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. [Medline].

  27. 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].

  28. 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.

  29. Kinnear PE, Jay B, Witkop CJ Jr. Albinism. Surv Ophthalmol. 1985 Sep-Oct. 30(2):75-101. [Medline].

  30. Kriss A, Russell-Eggitt I, Harris CM, et al. Aspects of albinism. Ophthalmic Paediatr Genet. 1992 Jun. 13(2):89-100. [Medline].

  31. Lyle WM, Sangster JO, Williams TD. Albinism: an update and review of the literature. J Am Optom Assoc. 1997 Oct. 68(10):623-45. [Medline].

  32. 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. [Medline].

  33. Oetting WS. Albinism. Curr Opin Pediatr. 1999 Dec. 11(6):565-71. [Medline].

  34. Oetting WS, Brilliant MH, King RA. The clinical spectrum of albinism in humans. Mol Med Today. 1996 Aug. 2(8):330-5. [Medline].

  35. 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].

  36. Oetting WS, Summers CG, King RA. Albinism and the associated ocular defects. Metab Pediatr Syst Ophthalmol. 1994. 17(1-4):5-9. [Medline].

  37. 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. [Medline].

  38. 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. [Medline].

  39. Smith SA, Wong PK, Jan JE. Unilateral alpha reactivity: an electroencephalographic finding in albinism. J Clin Neurophysiol. 1998 Mar. 15(2):146-9. [Medline].

  40. Spritz RA. Molecular genetics of oculocutaneous albinism. Hum Mol Genet. 1994. 3 Spec No:1469-75. [Medline].

  41. Summers CG, Knobloch WH, Witkop CJ Jr, et al. Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology. 1988 Apr. 95(4):545-54. [Medline].

  42. 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. [Medline].

  43. 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. [Medline].

 
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