A Phenotypically Variable Presentation of Albinism: A Case Report

Background: Albinism refers to a group of hereditary conditions, present at birth, that are characterized by gene mutations resulting in hypopigmentation of the skin, hair, and ocular structures. There are two categories of albinism distinguished by the mode of inheritance as well as the body structures affected: Oculocutaneous Albinism and Ocular Albinism. Case Report A 10 year old Caucasian-Hispanic female was referred to the Low Vision Clinic withvision impairment secondary to albinism, a diagnosis confirmed by the Electrophysiology Department two years prior. Ancillary testing supporting albinism included Visual Evoked Potentials (VEPs) demonstrating abnormal optic nerve fiber decussation and optical coherence tomography (OCT) revealing foveal hypoplasia. Clinical findings consistent with albinism included strabismus with reduced stereopsis, mild but diffuse iris transillumination defects and blonde fundi. The patient had physical characteristics of fair skin, light brown hair, and had normal color vision, moderately reduced visual acuity, and absence of nystagmus, suggesting a mild phenotypic variation of albinism. At her low vision evaluation, the patient appreciated improvement in visual function with the following devices: a dome magnifier for magnification at near, a handheld telescope for magnification at distance, and a light grey tint to reduce photophobia indoors. Additional accommodations were recommended to the school system to employ while in the classroom setting. Conclusion: Clinicians should consider the diagnosis of albinism in patients with reduced vision even when they demonstrate mostly normal skin and ocular pigmentation. Clinical cases associated with a better acuity in albinism patients include some presence of stereoacuity, mild strabismus, absence of nystagmus and near normal levels of iris pigmentation, like the patient described in the case report. Despite the level of visual impairment, the standard of care for patients with decreased vision or visual symptoms should always be a low vision evaluation in order to maximize functional vision.