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Ocular Manifestations of Albinism Clinical Presentation

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

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
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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, 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.[5]

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Causes

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

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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.

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