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.
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