Article 4 Pediatric Patient with Oculocutaneous Albinism:

A Case Report
Casandra Solis, OD, Akron Children’s Hospital, Akron, Ohio

ABSTRACT
Background: Oculocutaneous albinism (OCA) is a rare genetic disorder that occurs due to a mutation in one of the genes
that affects the melanin biosynthesis pathway. OCA is autosomal recessive and affects people of all ethnic backgrounds.
Oculocutaneous albinism often presents with nystagmus and pale coloring of the skin and hair. The patient with OCA
has normal development, intelligence, fertility, and lifespan.
Case Report: A two-month-old female presented with a new-onset intermittent nystagmus. A complete vision exam
resulted in a diagnosis of oculocutaneous albinism with nystagmus secondary to foveal hypoplasia. The findings were
discussed with the parents, and a follow-up was scheduled. At the five-month follow-up, the patient was progressing well
and had a reduction in the amplitude of her nystagmus.
Conclusion: Oculocutaneous albinism is often discovered first with a visit to the eye care professional due to a recent
onset of nystagmus. Foveal hypoplasia causes an onset of nystagmus between two and three months. Additional ocular
manifestations include reduced visual acuity, strabismus, high refractive error, amblyopia, increased decussation of visual
fibers, color vision defects, photophobia, transillumination, and hypopigmentation of the retinal pigmented epithelium.
Assistance for the child with OCA consists of correcting the refractive error; amblyopia treatment when necessary;
and concurrent physical, occupational, and low vision therapy. Communication and collaboration with other medical
specialties is warranted throughout life.
Keywords: genetic disorder, low vision, nystagmus, oculocutaneous albinism, pediatric

Case Report very fair. The patient was then dilated with one drop of
Initial Visit Cyclomydril OU.
A two-month-old female was taken to the emergency Anterior segment evaluation showed light blue irides
department when her parents noted an onset of what they but was otherwise normal. A mild hyperopic refractive error
described as intermittent shaky movements of the eyes. The of +1.75 sphere OU was found with cycloplegic retinoscopy.
doctor in the emergency department noted intermittent Posterior segment evaluation revealed foveal hypoplasia in both
horizontal nystagmus of high frequency that was more eyes and a pale fundus bilaterally that was transparent enough
prominent in lateral gaze. The patient was referred to the to allow visualization of the underlying choroidal vasculature.
ophthalmology department for a complete eye exam. The remaining posterior ocular structures were unremarkable.
The following week, the patient presented to our office Due to the clinical findings of hypopigmentation
for a complete eye exam. The patient’s mother accompanied and foveal hypoplasia, a diagnosis of ocular albinism
her to the exam. The mother reported the onset of the with secondary nystagmus was given. The discussion of
nystagmus within the past week and believed that it occurred findings with the mother included the strong possibility of
more frequently when the patient was trying to focus on oculocutaneous albinism (OCA) and a high probability of
something in particular. decreased vision for the entirety of the patient’s life. Best
A complete medical history was taken. The child was corrected verbal visual acuity (VA) was unable to be obtained
full term with no complications during birth. She was taking due to age. A more specific VA measurement will be obtained
Zantac (ranitidine) for reflux but was otherwise healthy with no when the child is old enough to complete verbal acuity tests.
known drug allergies. Family ocular history was unremarkable. Tests for recognition VA include but are not limited to Lea
Upon examination, it was noted that the patient fixed Symbols, HOTV, and Allen symbols. A visually evoked
and followed bright, lighted toys binocularly. She was grossly potential (VEP) or forced preferential looking could have
aligned with no strabismus noted during the Hirschberg test. been performed to obtain resolution VA but was not deemed
The pupils were equal in size, round, and reactive to light. necessary at that point in time as they would not alter the
No afferent pupillary defect was noted. A large-amplitude, course of treatment. Close monitoring of the patient and
low-frequency, horizontal jerk nystagmus was observed. reevaluation of visual behavior was deemed to be necessary,
The patient’s overall pigmentation, both skin and hair, was and a six-month follow-up was scheduled.

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 A referral to a local center for children with visual Table 1: Type of OCA, Genes Affected, and Genetic Loci
impairment was provided. The center focuses on young Name Abbreviation Gene Affected Locus
children from birth through preschool. They work with Oculocutaneous OCA1A Tyrosinase (TYR) 11q14.3
children of varying visual deficiencies to help both the patient albinism type IA

and the family learn adaptations in order to provide the Oculocutaneous OCA1B Tyrosinase (TYR) 11q14.3
albinism type IB
best success possible as the child continues to grow. Services
Oculocutaneous OCA2 OCA2 gene (OCA2) 15q12-q13
focus on the individual child and can include any of the albinism type II
following: orientation and mobility, low vision training, Braille Oculocutaneous OCA3 Tyrosinase-related 9p23
instruction, occupational and physical therapy, and speech albinism type III protein (TYRP1)
training. These services allow them to help prepare the visually Oculocutaneous OCA4 Membrane associat- 5p13.2
impaired child for success in mainstream school environments albinism type IV ed transport protein
(SLC45A2)
and beyond.
Ocular albinism OA GPR143 Xp22.2
Information for table taken from Online Mendelian Inheritance in
Five-month Follow-up Examination Man (OMIM)12
The patient returned for follow-up at the age of 6.5
months. Both parents accompanied the patient for the
examination. Neither had any concerns. They noted that to the increasing shift in myopia. When glasses are needed
her hair had fallen out and grown back in very pale, almost they will include both the refraction and a note for medically
white, in color. The parents had begun the relationship with necessary photochromic lenses. The photochromic lenses are
the local center for children with visual impairment and were indicated for the patient’s protection from UV light as well as
very pleased with their interactions thus far. Medical history for comfort. Follow-up was scheduled for six months in order
remained unchanged from the previous visit. to continue to assess visual function and development as well
Gross examination showed pale hair and eyelashes, as as refractive error.
well as very pale, hypopigmented blue irides. At this time,
it was not possible to visualize iris transillumination with Discussion
gross observation. Transillumination of the iris would be best Etiology and Genetics
visualized with the biomicroscope, which was not feasible Oculocutaneous albinism is an autosomal recessive
at this age. Fixation was measured as central, non-steady, disorder that presents with heterogeneous expressivity.
maintained at near OD, OS with a 10Δ base down prism. Albinism can and does affect all ethnic backgrounds.
The patient was aligned by unilateral cover test at near with Prevalence is dependent on subtype but has been reported
no strabismus noted. A horizontal jerk nystagmus was noted to have an overall incidence of 1 in 16,000-20,000 live
to have a small to moderate amplitude and low frequency. At births. Carrier rates have been documented to be as high as
this exam, one drop of cyclopentolate 1% was instilled in each 1 in 70.1-5 Individuals with albinism have normal lifespan,
eye. Cycloplegic refraction revealed -1.00+1.00x090 OD, development, intelligence, and fertility.
-1.00+1.00x090 OS. Fundus examination was unchanged There are four main categories of OCA, each caused by
from the previous exam, showing an albinotic fundus with mutations in a separate gene. The four types, OCA1, OCA2,
foveal hypoplasia OU. OCA3, and OCA4, are due to mutations in tyrosinase, the
At this follow-up examination, a definitive diagnosis OCA2 gene (formerly known as the P gene), tyrosinase-related
of OCA with secondary nystagmus was made. The parents protein (TYRP), and a membrane associated transport protein
stated that the patient’s pediatrician also agreed with the (MATP), respectively, all of which are found at different
diagnosis. Because of the obvious clinical diagnosis, genetic loci (Table 1).1,2,4,6-8 There are many phenotype similarities
testing for verification was not ordered at this time. Decreased amongst the different types of OCA, and the only definitive
visual function and visual impairment were reviewed way correctly to diagnose the type is by genetic testing.
with the parents. It was discussed that due to the patient’s Ocular pigment has two different origins. The uveal
current age, a specific VA was not determined during this melanocytes are derived from the neural crest, while the retinal
exam. Our office did not have a VEP, and as there were no pigment epithelium (RPE) melanocytes are derived from the
indications that monocular amblyopia existed (secondary to neuroectoderm.1,8 This explains why an individual can have
strabismus or anisometropia), it was decided not to pursue different pigmentation throughout the ocular structures. In
forced preferential looking or to refer out for a VEP. The addition, the pigmentation of the iris and skin is determined
parents agreed with the treatment plan. Had they requested not by the melanocytes but by the size and number of
a measurement, the patient would have been scheduled to melanosomes.1 Different proteins are involved in the melanin
return for testing with the Teller Acuity Cards. pathway, and disruption can happen in any of the steps.
While glasses were not prescribed at this exam, the The first type of OCA can be broken down into two
possibility of glasses in the future was discussed today due subtypes, OCA1A and OCA1B. OCA1A is the most severe

234 Optometry & Visual Performance Volume 3 | Issue 4 | 2015, August

form of oculocutaneous albinism. The patient with OCA1A children whose family background contains lighter-pigmented
completely lacks tyrosinase, a key step in the melanogenesis individuals, diagnoses can be delayed.
pathway. Because of this pathway breakdown, no pigment Skin color can fluctuate from no pigment to normal
formation occurs. This will manifest as pale white skin that pigmentation. Furthermore, patients with one type of
does not tan, white hair, and very light blue to pink irides. Due albinism (OCA1B) can develop some pigmentation over the
to the complete lack of pigment, patients with OCA1A tend to first one to three years of life. Hair color, including eyelashes
have the most reduced visual acuity of all albinism patients.1,2,6 and eyebrows, varies from no pigment to brown.
OCA1B has an overall decrease in tyrosinase enzymatic Ocular presentation also has a wide spectrum, and lack
activity that allows the accumulation of some pigment. of pigment will be evident during examination due to iris
Over the course of the first three years of life, the patient transillumination, foveal hypoplasia, and hypopigmentation
may develop some pigmentation of the hair, skin, and eyes. of the RPE. Additional ocular features include nystagmus,
OCA1B also has a temperature-sensitive subtype that presents high refractive error, reduced visual acuity, possible strabismus
with hypopigmented hairs in the warmer-temperature areas of and amblyopia, photophobia, color vision defects, and an
the axial and pubic regions and body hair with pigment in the increase in decussation of optic fibers.1,6-9
colder-temperature extremities.1,6-8 Variability of pigment in the iris structures manifests as a
OCA2 is caused by mutations in the OCA2 gene, range of colors from pink to dark brown. Iris transillumination
which assists in the regulation of the amount of tyrosine. is a rare finding in normal, healthy individuals, even in those
The phenotypes in type 2 OCA vary widely, with even black with lighter pigmentation. Transillumination can range from
hair being reported in some cases. Because the phenotype small specs to so diffuse that the outline of the intraocular
presentation can appear as a very mild form of albinism, visual lens can be seen though the iris.
acuity prognosis is often more positive in patients with this Foveal hypoplasia is a constant in all types of albinism and
genetic mutation.1,2 This form of OCA is more prevalent in is often the visually limiting factor. Visual acuity in patients
sub-Saharan African populations.6 with albinism spans from 20/20 to less than 20/400.2,7-
A mutation in the tyrosinase-related protein gene is the 10
The RPE is often hypoplastic and can be translucent,
cause for OCA3. The mutation of TYRP1 often presents allowing the choroidal vascular structures to be seen with
with red hair and reddish-brown skin. It is far more binocular indirect ophthalmoscopy. This is often viewed
common in patients of southern African descent than other more readily in the mid-peripheral and peripheral retina.1
ethnic backgrounds. Type 4 OCA is related to a mutation The hypopigmentation of the iris and retinal structures
in the MATP gene SLC45A2. It is phenotypically very contributes greatly to the photophobia that is reported by
similar to OCA type 2, with a wide spectrum of clinical the majority of albinism patients.
presentation.1,2,6,7 Nystagmus is not present at birth but develops in the
Ocular albinism (OA) is an X-linked recessive trait. It second to third month of life.7,8 Typically, the fovea begins
presents with the ocular manifestations but lacks the cutaneous to develop during this time period, allowing the eyes to
manifestations found in other forms of albinism. In many cases, fixate on their target. With hypoplasia of the fovea, the eyes
the female carrier presents with a “mud-splattered” fundus, develop a searching motion. In lighter-pigmented families,
patches of pigment next to patches of hypopigmentation the onset of nystagmus is often the first indication of the
in the retina.1,4,7 This appearance is due to lyonization, the disease and warrants a visit to their eye care professional. The
phenomenon that allows X-linked recessive genotypes to be nystagmus seen with albinism falls under the category of
partially expressed. infantile nystagmus syndrome (formally known as congenital
With almost 200 mutations in the TYR gene alone, nystagmus). Nystagmus generally begins with a large
it is highly unlikely that all genetic abnormalities related to amplitude and low frequency. Over time, the nystagmus may
albinism have been discovered.2 Additional research and improve, but it is important to note that any type of nystagmus
case studies are likely going to continue to provide us with is possible: horizontal, vertical, or rotary.1,4,8
additional mutations that contribute to albinism. In an individual without albinism, the nasal retinal fibers,
which make up 55% of the total fibers, cross at the optic
Clinical Presentation chiasm. An individual with albinism has a larger amount, up
The clinical presentation for OCA varies widely depending to 75-85% of the fibers, decussating to the contralateral side.1,8
on the specific genetic mutation. In addition, the heterogeneous The increase in decussating fibers is not due to an increase in
nature of the genetic mutation allows a spectrum of phenotypic nasal fibers, but rather to a portion of the temporal retinal
expression to occur. Typically, skin, hair, and ocular structures fibers also crossing at the chiasm. It was previously believed
are either hypopigmented or lighter in pigment than in other that only patients who had an increase of crossing fibers could
people with the same ethnic background. In families of truly be diagnosed with albinism, but recent literature has
darker-pigmented individuals, diagnosis can often be made documented the genetic mutation for albinism in patients
at birth due to the obvious lack of pigment in the child. In without the abnormal decussation.1 The miswiring of the

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optical system contributes to the increase in strabismus and is older, if there is no concurrent strabismus and/or amblyopia,
reduced stereopsis in this patient population.2,8,9 the visits can be spread out to once per year.
High refractive errors are common in albinism patients. Since many patients have nystagmus, VA may be better
Literature indicates that the refractive errors have no predilection binocularly or when taken through a fogging lens, which helps
for one type and can be hyperopic, myopic, or astigmatic.3,9 to minimize any latent nystagmus that may be present. Even
Due to the high incidence of strabismus and larger refractive still, it is prudent to obtain monocular VA in order to rule
errors, amblyopia can occur and needs to be considered if the out amblyopia. If amblyopia occurs due to refractive error
measured corrected visual acuity is more than one line different differences or strabismus, it is critical to ensure that proper
between the two eyes. If the child is too young to respond treatment is given.
to verbal VA tests, forced preferential looking or a VEP can If necessary, glasses can help improve vision. Many
be utilized to gain insight into their visual abilities. Both tests practitioners believe that visual acuity will still be diminished
will result in resolution visual acuities. While resolution visual and may not provide the option to the parents or the patient.
acuity cannot be compared directly to recognition VA, it can It has been shown that adaptation to glasses, when necessary, is
give the doctor insight as to differences in acuities between the excellent and can improve overall acuity.3 Photochromic lenses
two eyes, and amblyopia treatment can be initiated with more can be very helpful and should be strongly considered, especially
confidence.8 in the pediatric patient who may not be able to verbalize their
discomfort. In addition, these lenses will help to protect the
Associated Syndromes ocular structures from ultraviolet light; a medically necessary
While OCA is generally found without any concurrent indication can be included with their glasses prescription.
systemic conditions, it is also known to be associated with Special testing can help to determine the level of foveal
certain syndromes. Common syndromes in which albinism is hypoplasia and the percentage of optic fibers that decussate.
a component are Hermansky-Pudlak syndrome and Chédiak- Optical coherence tomography can be used to determine
Higashi syndrome. Both syndromes have vesicular formation the true amount of hypoplasia in the macula. This test can
irregularities.1,4,6 be difficult due to the secondary nystagmus, but studies have
Hermansky-Pudlak syndrome is more common in shown its feasibility to help reveal structural changes to the
patients of Puerto Rican descent, with rates of 1 in 1800 retina. Typically, complete foveal hypoplasia will show as
reported.2,11 Vesicles affected include platelets, which can result a tram-track appearance on the scan and a complete lack of
in bleeding problems. Furthermore, some individuals with foveal depression. If some foveal depression exists, better VA
Hermansky-Pudlak syndrome have ceroid lipofuscin deposits, is expected.4,9 Verification of optic fiber decussation to the
which can cause additional health problems. These problems contralateral side can be determined by monocular VEP.
include granulomatous colitis, interstitial lung disease, The VEP can be used to help diagnose albinism in a patient
renal failure, and/or cardiomyopathy.1,6-8,11 Chédiak-Higashi with minimal hypopigmentation but is not necessary for the
syndrome patients have increased susceptibility to bacterial diagnosis in all cases.1,3,4,8
infections.6-8 Due to the additional health complications that Because of the overall reduced acuity, it is crucial to monitor
exist with Hermansky-Pudlak syndrome and Chédiak-Higashi the child’s developmental milestones and to seek assistance
syndrome, additional testing for the patient with OCA may from other specialties such as physical or occupational therapy.
be warranted. Particular care and timely referral should occur As the child begins school, special accommodations may need
in patients with particular backgrounds or frequent bleeding, to be instituted. An individual educational plan (IEP) can
bruising, or infections. be instituted to allow the use of low vision aids and special
Additional syndromes include Griscelli syndrome, accommodations throughout the child’s educational career.
Waardenburg syndrome type II, Elejalde syndrome, Angelman Often higher-contrast papers, magnifiers, and enlargement
syndrome, and Prader-Willi syndrome. In Prader-Willi and machines (closed circuit televisions, iPads, etc.) are the most
Angelman syndromes, the albinism is often OCA2.1,2,8 beneficial. As the patient ages and enters the work force,
additional accommodations such as added time to complete
Ocular Treatment and Follow-Up assignments or special equipment may be necessary.1,2,6,10
Clinical diagnosis of albinism usually requires a referral to
an eye care specialist. In some cases, where the patient’s family Additional Considerations:
has darker pigmentation, diagnosis can be made at birth. Patients with OCA have an increased risk of skin cancer
Complete ocular examination is necessary at diagnosis and will due to their lack of pigment. Avoidance of direct sunlight,
be essential throughout the patient’s life. Due to the increased particularly during the critical times between 10:00 am and
incidence of high refractive error, strabismus, and amblyopia, 3:00 pm when the UVA and UVB rays are at their strongest,
examinations may need to be more frequent during the first is recommended. In addition, the patient should be diligent
few years of life, as frequent as every six months. Once the child about using sunscreen and protective clothing. Referrals

236 Optometry & Visual Performance Volume 3 | Issue 4 | 2015, August

to dermatology should be considered early in life. The have normal development, intelligence, and lifespan. With
dermatologist can discuss more details and risks with the proper care, the life of a patient with albinism is not restricted
patient and parents and will most likely schedule frequent beyond the visual limitations.
exams to check for any abnormal skin changes.2,11
In some situations, patients may have psychological issues References
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instances, genetic testing may be of benefit to the patient or 4. Summers CG. Albinism: Classification, clinical characteristics, and recent
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considering additional children, their risk of having another 5. MacDonald JT, Kutzbach BR, Holleschau AM, Wyckoff S, Summers
child with OCA is one in four. Any unaffected children by CG. Reading skills in children and adults with albinism: The role of visual
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the same parents have a 67% chance of being a carrier of the
6. Beaudoin E, Hildebrand MP, Schmidt K. Newborn With Oculocutaneous
trait. If a patient with oculocutaneous albinism has children, Albinism. J Pediatr Health Care [Internet]. 2013 Oct [cited 2014 Mar 24];
their offspring with either be carriers or will express the trait Available from: http://bit.ly/1Cb3LsY
themselves, depending on the genetics of the second parent. If 7. Basic and clinical science course 2013-2014. [San Francisco, Calif.]: American
the OCA patient’s spouse is a carrier of the trait, the chance of Academy Of Opthalmology, 2013.
their children having OCA increases. The patient and spouse 8. Nelson LB, Olitsky SE. Harley’s Pediatric Ophthalmology, 6th ed. Philadelphia,
may wish to undergo genetic testing before reproduction. PA: Lippincott Williams & Wilkins, 2014.

Prenatal testing is possible if requested, but warrants a detailed 9. Seo JH, Yu YS, Kim JH, Choung HK, et al. Correlation of visual acuity
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Conclusion in visual acuity in albinism in the early school years. J Pediatr Ophthalmol
Albinism is a rare condition that affects individuals of all Strabismus 2012;49:81-6.
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first sign, many of these patients are diagnosed during a visit to
their eye care provider. It is critical for the eye care professional 12. Online Mendelian Inheritance in Man (OMIM). McKusick-Nathans Institute
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In addition, frequent eye exams are necessary during the first
few years of the patient’s life. The examinations must routinely Correspondence regarding this article should be emailed to Casandra Solis, OD
verify any need for glasses as well as ensure that no amblyopia at [email protected]. All statements are the author’s personal opinions and
or strabismus has developed. If necessary, the practitioner must may not reflect the opinions of the the representative organizations, ACBO or
OEPF, Optometry & Visual Performance, or any institution or organization
be prepared to treat these conditions accurately and efficiently. with which the author may be affiliated. Permission to use reprints of this
Permanent vision impairment is a constant in all forms of article must be obtained from the editor. Copyright 2015 Optometric
OCA. Patients and their families may need counseling both Extension Program Foundation. Online access is available at www.acbo.org.au,
to understand and to accept the reality of visual impairment, www.oepf.org, and www.ovpjournal.org.
which has a wide prognosis depending on the expressivity Solis C. Pediatric patient with oculocutaneous albinism: a case report. Optom
of the albinism. As the child ages, an IEP and special Vis Perf 2015;3(4):233-7.
accommodations are often necessary during the school years.
These accommodations can be continued throughout the
patient’s life, even into the working years. Patients with OCA
The online version of this article
contains digital enhancements.

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