COURSE OUTLINE
typically have lighter skin and hair
1. Albinism
A. Description
a. Melanin
B. Classification
C. Forms Of Albinism
D. Signs & Symptoms
E. Characteristics
F. Effect on Vision
G. Management
Albinism
What is Albinism?
Albinism
● From the Latin word “Albus" meaning white.
● A lifelong condition that is a group of heritable conditions
that is present at birth associated with the absence of
melanin in ectoderm derived tissues specifically the hair,
skin, and eyes.
Melanin
What is Melanin?
● Produced by Melanocytes (Melanosomes).
● Melanogenesis.
● It is responsible for the pigment in our hair, eyes, and skin.
● It protects the cells from the damage coming from the
sunlight by absorbing harmful UV rays.
2 TYPES OF MELANIN
Black or brown coloration and protects the
Eumelanin skin through absorption of rays and their
carcinogenic DNA cross-linking effects.
Not UV protective and people associated
Pheomelanin with this are Fitzpatrick scale 1, with red or
blonde hair and light colored ruddy skin.
Classification
Nonsyndromic Albinism
● Nonsyndromic albinism is a genetic disorder that affects
the pigmentation of the skin, hair, and eyes. It is
characterized by a reduction or absence of melanin, which
can lead to vision problems and a high susceptibility to skin
cancer. There are six genes and one chromosomal region
associated with nonsyndromic oculocutaneous albinism
(OCA). Molecular analysis has become an important tool
for classifying types of OCA, which facilitates genetic
counseling and can guide the development of new
therapies.
● Nonsyndromic albinism refers to a group of genetic
disorders characterized by a reduction or absence of
melanin in the eyes, skin, and hair, without other
associated health problems. Melanin is the pigment
responsible for the coloration of these tissues. In
individuals with nonsyndromic albinism, the lack of melanin
can result in varying degrees of vision impairment and light
sensitivity, as well as skin and hair that are lighter in color
than usual.
Key Features of Nonsyndromic Albinism
The most common and prominent feature
of nonsyndromic albinism is vision
impairment. Reduced pigmentation in the
eyes can lead to abnormal development
Vision
of the optic nerve and abnormal routing of
Impairment
the nerve fibers between the eyes and the
brain. Nystagmus (involuntary eye
movement) and strabismus (crossed or
misaligned eyes) are also common.
Individuals with nonsyndromic albinism
compared to others in their family or
Skin and Hair
ethnic group. The degree of pigmentation
Pigmentation
can vary, and some individuals may tan
slightly with sun exposure, but they are
generally more susceptible to sunburn.
The ocular features of nonsyndromic
albinism include reduced pigmentation of
the iris (the colored part of the eye), which
Ocular
can result in a lack of eye color or a blue-
Features
gray appearance. The retina may also
lack normal pigmentation, affecting visual
function.
Nonsyndromic albinism is typically
inherited in an autosomal recessive
manner, meaning that both parents must
Genetic carry a mutation in the same gene for their
Basis child to be affected. Several genes have
been associated with nonsyndromic
albinism, including OCA1, OCA2, TYR,
and others.
There are different subtypes of
nonsyndromic albinism, classified based
Subtypes on the specific genetic mutations
involved. Each subtype may have slightly
different clinical features.
Isolated Ocular Albinism
● Isolated ocular albinism (IOA) refers to a subtype of
albinism that primarily affects the eyes, causing ocular
(eye-related) symptoms without significant involvement of
the skin or hair. Individuals with isolated ocular albinism
typically exhibit reduced pigmentation in the eyes, leading
to various visual issues, but they do not display the
pronounced changes in skin and hair color characteristic of
other forms of albinism.
● Isolated ocular albinism is just one subtype, and other
forms of albinism may involve more extensive pigmentation
changes affecting the skin and hair.
● Individuals with isolated ocular albinism may benefit from
regular eye examinations, visual aids, and other supportive
measures to address specific visual challenges. Genetic
counseling can also be valuable for families affected by this
condition to understand the inheritance pattern and
potential risks.
Key Features of Isolated Ocular Albinism
Individuals with IOA have reduced
pigmentation in the eyes, particularly in
Eye the iris (the colored part of the eye) and
Pigmentation the retina. This lack of pigmentation can
result in a variety of eye-related
symptoms.
Like other forms of albinism, isolated
ocular albinism is associated with vision
impairment. The reduced pigmentation in
the retina can lead to abnormal
Vision development of the optic nerve and affect
Impairment the routing of nerve fibers between the
eyes and the brain. Common visual
issues include nystagmus (involuntary
eye movement), strabismus (crossed or
misaligned eyes), and sensitivity to light.
Isolated ocular albinism is often inherited
in an X-linked recessive manner. This
means that the gene associated with the
Genetic condition is located on the X
Basis chromosome, and males are more
commonly affected than females.
Females may carry the gene without
displaying symptoms.
 The term "isolated" in isolated ocular Forms of Albinism
albinism reflects the fact that pigmentation
No Skin or
changes are limited to the eyes, and OCA1
Hair
individuals with this condition typically do Autosomal Recessive
Involvement
not exhibit the lighter skin and hair
Tyrosinase hydroxylates L-tyrosine to L-DOPA and
associated with other forms of albinism. →
oxidates L-DOPA to DOPAquinone
Syndromic Albinism
OCA2
● Syndromic albinism refers to a group of genetic disorders Autosomal Recessive
that involve albinism as one of the features, but individuals
also present with additional health issues or abnormalities The OCA2 gene product is the OCA2 melanosome
→
affecting various organs and systems. Unlike transmembrane protein P.
nonsyndromic albinism, which primarily affects
pigmentation without other associated health problems, OCA3
Autosomal Recessive
syndromic albinism is characterized by a broader range of
symptoms. → TYRP1 gene product is tyrosinase-related protein 1.
● It's important to note that syndromic albinism is often
caused by mutations in genes that play roles in various OCA4
cellular processes beyond pigmentation. The additional Autosomal Recessive
features associated with these syndromes can vary widely, The SLC45A2 gene codes for a solute carrier family
and individuals may experience a range of health → 45, member 2 membrane-associated transport protein
challenges affecting the skin, hair, eyes, immune system, (MATP).
and nervous system.
● Management of syndromic albinism involves addressing OCA5
the specific symptoms and complications associated with Autosomal Recessive
each syndrome. This may include measures to improve
vision, treatment of infections, and supportive care for other → Not identified.
affected organs and systems. Genetic counseling is OCA6
important for families affected by syndromic albinism to Autosomal Recessive
understand the inheritance pattern and potential risks for
future generations. The SLC24A5 gene codes for Na/K/Ca cation
→
exchange protein similar to OCA4.
Several syndromes associated with albinism exist, and OCA7
each has its own distinct features. Some examples of Autosomal Recessive
syndromic albinism include:
The LRMDA gene codes for a protein, role in
→
melanocyte differentiation.
This is a rare genetic disorder that
affects multiple organs and is Hermansky-Pudlak syndrome (HPS)
characterized by albinism, bleeding Autosomal Recessive
disorders due to platelet HPS1 gene (HPS1), AP3B1 gene (HPS2), HPS3
Hermansky-Pudlak dysfunction, and storage of an gene (HPS3), HPS4 gene (HPS4), HPS5 gene
Syndrome (HPS) abnormal fatty substance (ceroid
→ (HPS5), HPS6 gene (HPS6), DTNBP1 gene (HPS7),
lipofuscin) in various tissues. HPS BLOC1S3 gene (HPS8), BLOC1S6 gene (PLDN),
has several subtypes, each AP3D1 gene (HPS10).
associated with mutations in
different genes. Chediak-Higashi syndrome (CHS)
Autosomal Recessive

This is a rare autosomal recessive The LYST gene code for a protein that directly
→
disorder characterized by partial deliver materials into lysosomes.
albinism, recurrent infections, and a
Chediak-Higashi Ocular albinism (OA1)
tendency to develop an abnormal
Syndrome (CHS) X-Linked
type of white blood cell called giant
granules. CHS is caused by The GPR143 gene product is a G-protein coupled
mutations in the LYST gene. →
receptor.

This is a group of rare genetic Signs and Symptoms

disorders characterized by
albinism, immune system Skin
dysfunction, and neurological ● Very pale skin and patches of missing skin pigment.\Skin
Griscelli Syndrome problems. There are several is sensitive to light and sun, and people with albinism are
subtypes of Griscelli syndrome, at higher risk of developing skin cancer.
each associated with mutations in
different genes, including MYO5A, Hair
RAB27A, and MLPH. ● Pale or light color of hair.
● Hair color can range from white to brown, and in some
This is another rare syndrome cases, there may be patches of missing hair pigment.
characterized by albinism, Eye Color
Cross-McKusick- intellectual disability, and
● Light colored.
Breen Syndrome neurological abnormalities. The
● May appear blue and the irises to be pale making it
specific genetic basis of this
sensitive to light.
syndrome is not yet well-defined.
Vision
This syndrome involves albinism ● Vision problems.
Oculocutaneous
and immunodeficiency, leading to ● Sensitivity to light, rapid eye movement, crossed eyes
Albinism with
an increased susceptibility to (strabismus), farsightedness, or nearsightedness. People
Immunodeficiency
infections. OCAID is associated with albinism may also experience frequent nosebleeds,
(OCAID)
with mutations in the LYST gene. easy bruising, or long-term infections.
 Characteristics Yellow or Orange Retina
● A change in the retinal appearance due to hypomelanosis
Type A has a complete absence of of the retinal epithelium, which loses its normal red color
melanin, while Type B, also known as and has prominent choroidal vessels.
OCA1
"yellow OCA," has some residual TYR Selective Visual Evoked Potential
function. ● A test that confirms retinostriate nerve fibers have
excessively crossed at the optic chiasm, helping to rule out
Classic OCA2 presents with creamy
optic nerve atrophy.
white or tan skin, yellow, blond, or light
OCA2
brown hair, and blue, hazel, brown, or Management
gray irides.
What are the managements?
Affects dark-skinned individuals, leading ● Primarily focuses on eye care and monitoring skin for
to brown or "rufous" skin, red or reddish problems. Regular eye exams, prescription glasses, and in
OCA3 yellow hair, hazel or light brown irides, some cases, surgery on eye muscles to reduce nystagmus
and sometimes undetectable visual are recommended.
● For skin care, people with albinism should use sunscreen
impairment.
with an SPF of at least 20 and protect their skin from sun
exposure.
Similar to classic OCA2, with cream-
● It is essential to monitor skin for changes such as freckles,
OCA4 colored to tan skin, and blue, hazel to moles, and lentigines, as there is a higher risk of skin
light brown irides. cancer.
Each presents with specific skin, hair, and ● Additionally, people with albinism may need support from
OCA5, OCA6, mental health counselors or support groups to cope with
eye color characteristics, as well as visual
OCA7 social and emotional challenges.
deficits.
Subjects have white to olive skin. Hair is
white to brown. Irides are hypopigmented
HPS
witH nystagmus, foveal hypoplasia, and
iris transillumination.
Subjects have partial OCA and exhibit
increased susceptibility to pyogenic
CHS
infections, neutropenia, peripheral
neuropathy, mild coagulopathy.

Hypopigmentation is limited to the eye,

with perhaps slightly paler skin and eyes
OA1
only when compared to other family
members.

Effect on Vision
Photophobia or Photodysphoria
● Sensitivity to light or discomfort in bright light, which can be
caused by various factors such as refractive errors, foveal
hypoplasia, and nystagmus.
Refractive Errors
● Common issues with vision, including astigmatism (73%),
myopia (24%), and hyperopia (3%), as reported by one
study.
Foveal Hypoplasia
● A condition characterized by the lack of a foveal reflex
during a dilated eye exam, which can indicate a visual
deficit.
Involuntary Pulsatile Horizontal Nystagmus
● A rhythmic back-and-forth movement of the eyes, typically
occurring in children between 1.5 and 4 months of age. It
can be exacerbated by fatigue, illness, pain, or stress.
Strabismus
● A misalignment of the eyes due to misrouted optic nerve
fibers at the chiasm, resulting in exotropia, esotropia, or
vertical misalignment.
Reduced Stereopsis and Binocular Vision
● A decrease in depth perception and the ability to see two
objects as a single image due to strabismus.
Reduced Iris Pigmentation
● A variable iris color that can range from pink to light blue,
green, gray, or light brown.
Iris Transillumination
● A "spoke wheel" appearance of the iris when light reflects
off the retina and back through the iris, as seen during
ambient light or on a slit lamp examination.