Albinism is a heterogeneous disorder characterized by both dermatological and ophthalmological expressions. In ophthalmological practice, patients with albinism frequently present with nystagmus and reduced visual acuity, the diagnosis having been made previously on dermatological features, or not. Specific ophthalmological features include iris transillumination, macular hypopigmentation, and foveal hypoplasia, all of them being quantifiable clinically using reproducible grading systems. Refractive errors (most often with-the-rule astigmatism and hypermetropia), along with strabismus (both eso- and exotropia), are also commonly encountered. Anatomical anomaly of the visual pathway, specifically chiasmal misrouting of retinal fibers, is a consistent finding. It potentially results in the presence of an abnormal angle lambda, which can manifest as a pseudo-exotropia appearance. The identification and quantification of all clinical signs allow to fully characterize the patient’s phenotype, and often to make the diagnosis of albinism, from infancy to adulthood.
The first step of the ophthalmological management in children consists in screening for amblyopia or amblyogenic factors (such as strabismus and refractive errors). Subsequently, management is typically divided into three key categories. Improvement of visual acuity through cycloplegic refraction and prescription of full optical correction (via spectacles or contact lenses). Management of infantile nystagmus syndrome, which can sometimes benefit from contact lenses, prisms, or surgical interventions. Tailored visual rehabilitation by prescribing spectral filter spectacles and low-vision aids whenever needed.
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