eMedicine Specialties > Ophthalmology > Ophthalmology for the General Practitioner

Ocular Manifestations of Albinism: Differential Diagnoses & Workup

Author: Mohammed O Peracha, MD, Assistant Professor, Department of Ophthalmology, Indiana University
Coauthor(s): Frances M Cosgrove, MD, Resident Physician, Department of Ophthalmology, Indiana University School of Medicine; 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; Dean Eliott, MD, Associate Professor, Department of Ophthalmology, Division of Vitreoretinal Surgery, Kresge Eye Institute, Wayne State University
Contributor Information and Disclosures

Updated: Oct 13, 2008

Differential Diagnoses

Albinism
Exotropia, Acquired
Amblyopia
Exotropia, Congenital
Aniridia
Hermansky-Pudlak Syndrome
Aniridia in the Newborn
Low Vision Therapy
Esotropia, Accommodative
Nystagmus, Acquired
Esotropia, Acquired
Nystagmus, Congenital
Esotropia, Infantile

Other Problems to Be Considered

Oculocutaneous albinism and ocular albinism should be distinguished from other disease entities that can present with cutaneous and ocular hypopigmentation, to include the following:

  • Aland Island eye disease (Forsius-Eriksson syndrome)
  • Cross-McKusick-Breen syndrome
  • Waardenburg syndrome
  • Prader-Willi syndrome
  • Angelman syndrome
  • Vitiligo
  • Congenital nystagmus
  • Achromatopsia
  • Piebaldism
  • Kallmann syndrome
  • Chondrodysplasia punctata

Foveal hypoplasia can be present in aniridia and retinopathy of prematurity.

Iris transillumination defects can be present in pseudoexfoliation syndrome, pigment dispersion syndrome, and uveitis.

Workup

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.

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.2 They found that these measurements correlated with the visual prognosis.2

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.

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.

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.

More on Ocular Manifestations of Albinism

Overview: Ocular Manifestations of Albinism
Differential Diagnoses & Workup: Ocular Manifestations of Albinism
Treatment & Medication: Ocular Manifestations of Albinism
Follow-up: Ocular Manifestations of Albinism
References
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References

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Further Reading

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Keywords

ocular manifestations of albinism, albinism, ocular albinism, oculocutaneous albinism, melanin, pigmentation abnormality

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Contributor Information and Disclosures

Author

Mohammed O Peracha, MD, Assistant Professor, Department of Ophthalmology, Indiana University
Disclosure: Nothing to disclose.

Coauthor(s)

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 and Association for Research in Vision and Ophthalmology
Disclosure: Nothing to disclose.

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, and Society for Neuroscience
Disclosure: Nothing to disclose.

Dean Eliott, MD, Associate Professor, Department of Ophthalmology, Division of Vitreoretinal Surgery, Kresge Eye Institute, Wayne State University
Dean Eliott, MD is a member of the following medical societies: American Academy of Ophthalmology and American Medical Association
Disclosure: Nothing to disclose.

Medical Editor

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 and Wilderness Medical Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

J James Rowsey, MD, Former Director of Corneal Services, St Luke's Cataract and Laser Institute, Florida
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, Pan-American Association of Ophthalmology, Sigma Xi, and Southern Medical Association
Disclosure: Nothing to disclose.

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
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, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.

 
 
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