Menkes' syndrome: ophthalmic findings

To report the prevalence and clinical significance of ocular findings in 20 patients with Menkes' syndrome recruited for a clinical trial at the National Institute of Child Health and Human Development (NICHHD).

Retrospective observational case series.

Twenty patients with Menkes' syndrome enrolled in a clinical trial at the NICHHD, who underwent ophthalmic evaluation at the National Eye Institute from 1990 through 1997.

Review of clinical ophthalmic examination records, photographs, and visual evoked potential recordings.

Prevalence of ophthalmic signs of unusual frequency in patients with Menkes' syndrome.

There was a high prevalence of very poor visual acuity (8 patients), myopia at 21 months old or younger (5 of 9 patients this age who underwent cycloplegic refraction), strabismus (11 of 18 patients whose motility was evaluated), blue irides (15 of 16 patients whose iris color was documented), iris stromal hypoplasia and bilateral peripheral transillumination (7 and 3 patients, respectively), peripheral retinal hypopigmentation (7 of 18 patients whose retinal periphery was noted at the initial examination), and aberrant eyelashes (5 patients).

Patients with Menkes' syndrome exhibit a high prevalence of several ocular findings, including some (very poor visual acuity, myopia, strabismus) that may warrant special care. Early ocular examination is thus indicated for patients with Menkes' syndrome, particularly those with mild variants of the disease, whose neurologic status is better and lifespan is longer.