Ocular albinism, first described by Nettleship1 in 1887, is a condition in which only the eye is lacking in pigmentation and the rest of the body is normally pigmented. It is a classic example of a disease transmitted as a sex-linked recessive. In typical ocular albinism there is a pendular nystagmus, a diaphanous iris which transilluminates, and a fundus which is lacking in pigmentation so that the choroidal vessels are plainly visible by ophthalmoscope. In addition, there is a hypoplasia or aplasia of the fovea and a decrease in visual acuity. The disease may be accompanied by myopia or astigmatism; head nodding may also be present at an early age. Ocular albinism is to be differentiated from hypoplasia or aplasia of the macula with nystagmus and from isolated congenital nystagmus.
In 1941 Vogt2 first described changes in the female heterozygote carriers of this disease. Since then the carrier
OCULAR ALBINISM. JAMA. 1963;185(8):661-662. doi:10.1001/jama.1963.03060080057018