Ocular Manifestations of Albinism Clinical Presentation

Updated: Jun 18, 2018
  • Author: Mohammed O Peracha, MD; Chief Editor: Hampton Roy, Sr, MD  more...
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Presentation

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. [6]

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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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