This case report describes a 13-year-old female patient with three rare genetic conditions: Trisomy 8, Turner Syndrome, and Triple X Syndrome. She presented with refractive errors, oculomotor dysfunction, and impaired vision information processing. After 27 optometric vision therapy sessions targeting these issues, her visual skills improved to age-appropriate levels. This is the first reported case of a patient with all three syndromes, demonstrating that vision therapy can effectively treat visual problems in individuals with genetic anomalies.

1. ABSTRACT
BACKGROUND: It is unusual to have a single patient
with multiple genetic anomalies. In this case report we
discuss oculo-visual, visual perceptual findings and op-
tometric vision therapy out comes for a young female
teenager with Trisomy 8, Turner Syndrome, and Triple
X syndrome. Trisomy 8 (T8mS) is characterized by intel-
lectual disability, heart, kidney and other physical defi-
cits. Most patients with T8mS demonstrate a mosaic in-
heritance. The prevalence is 1 in 25 to 50,000 births. The
common eye problems include various ocular health is-
sues and strabismus. Turner syndrome is the most com-
mon chromosomal anomaly of females affecting the X
chromosome. The incidence is 1/2500 births. Physical
features include short stature, short webbed neck, and
ovarian dysegenesis. Oculo-visual problems include am-
blyopia, strabismus, and ptosis. The cognitive and vision
information processing deficits seen include visuospa-
tial, math and memory anomalies. Triple X syndrome re-
sults from non-disjunction during cell division. It occurs
in 1/1000 births. Most women have normal physical/
sexual development but are at risk for intellectual and
psychological problems.
CASE REPORT: ST, a 13 y/o WF, presented with 3 unique
genetic anomalies. The evaluation revealed myopia,
astigmatism, oculomotor dysfunction and numerous vi-
sion information processing problems including below
expected performance on laterality/directionality, visual
discrimination, memory, and form constancy, as well as
sequential memory, figure ground, closure, and sensory-
motor integration. Optometric vision therapy (OVT) was
instituted and followed a standard therapeutic format.
Computer aided OVT included the use of PTS II and Vi-
sion Builder. After 27 OVT visits all visual efficiency/vi-
sion information processing skills were at or above ex-
pected levels for her mental age.
CONCLUSIONS: This is the first and only report in the
literature of a child with Trisomy 8, Turner’s syndrome,
and Triple X syndrome. This case demonstrates the po-
tential efficacy of using OVT as a treatment of visual ef-
ficiency and vision information processing disorders for
individuals with genetic anomalies. The primary care
optometrist should diagnose and treat or refer out for
treatment children who present with the developmental
disabilities diagnosed with these various syndromes.
Key Words:Trisomy 8, Turner’s Syndrome, Triple X, opto-
metric vision therapy
BACKGROUND
TRISOMY 8
ETIOLOGY AND DIAGNOSIS
The etiology of Trisomy 8 (T8mS) is currently under
investigation, but a possible hypothesis is that T8mS
is an immune-mediated block in apoptosis that re-
sults in dysplasia and ineffective production and de-
velopment of blood cells in the bone marrow. In most
cases, a trisomy results in miscarriage. Since chromo-
somal mosaicism is common with this syndrome con-
siderable phenotypic variation exists, making clinical
diagnosis difficult due to only slight physical abnor-
malities, with mild cases going unrecognized for sev-
eral years or even into adulthood. Diagnosis can be
made by genetic testing. High amounts of T8mS cells
in the extra-embryonic tissues allow for early identi-
fication through amniocentesis and fetal blood sam-
pling. The exact incidence of live-born children with
T8mS is not known as of 2005, but one study did note
that one child with the condition was seen out of
34,910 newborns.
CLINICAL ATTRIBUTES
Systemic presentation can vary widely among T8mS
patients. Mild to moderate mental retardation, heart
defects, kidney abnormalities, and GI anomalies are
typical characteristics. Also found are facial dysmor-
phism such as a prominent forehead, low set ears,
broad upturned nose, everted lower lip and a high
arched palate possibly causing poor speech articulation.
Skeletal abnormalities such as restricted joint motion,
abnormal vertebrae, and scoliosis are possible. Other
physical characteristics include deep palmar and plan-
tar furrows, long slender trunk, and a narrow pelvis.
Growth is variable; patients range from short to tall.
OCULO-VISUAL CHARACTERISTICS
Trisomy 8 ocular findings often includes strabismus,
corneal opacities, congenital cataracts, hypertelorism,
and microphthalmia. Also noted are prominent epi-
canthal folds, deep set eyes, ptosis and nystagmus.
Poor adduction and Duane’s Syndrome have also been
reported. Fundus findings could include: optic atro-
phy, small optic discs, foveal hypoplasia and streak
hemorrhages.
TURNER SYNDROME
ETIOLOGY AND DIAGNOSIS
Turner Syndrome (TS) is a chromosome abnormality af-
fecting about 1/ 2,000 female births and accounts for
up to10% of all miscarriages. It is due to the absence
of all or part of the X chromosome. Many of these
individuals are mosaics resulting in characteristics that
are milder than in those who exhibit the full syndrome.
The diagnosis of this disorder is frequently made using
amniocentesis and then evaluating the karyotype.
CLINICAL ATTRIBUTES
Individuals with TS demonstrate several clinical attri-
butes such as high blood pressure, kidney problems,
diabetes, cataracts, osteoporosis and thyroid prob-
lems. You may also note other physical features such
as a webbed neck, low hairline, low-set ears, and
swollen hands and feet.
OCULO-VISUAL CHARACTERISTICS
The oculo-visual findings can include a wide variety of
eye and vision problems including amblyopia, strabis-
mus, significant refractive error, and numerous func-
tional vision anomalies. Vision information processing
anomalies have been noted as well.
TRIPLE X SYNDROME
ETIOLOGY AND DIAGNOSIS
Individuals with Triple X Syndrome (Trisomy X or
47, XXX) have an extra X chromosome. It is noted in
1/1,000 newborn females and is not inherited but
rather its etiology is believed to be caused by a ran-
dom event during the formation of reproductive cells.
CLINICAL ATTRIBUTES
Females with this condition may be taller than aver-
age, but otherwise this genetic may not cause any
other unusual physical features. There have been
some cases where large frontalles, syndactyly, cleft lip,
ear and kidney malformations, seizures and meningo-
myelocele have been noted.
OCULO-VISUAL CHARACTERISTICS
Those with 47, XXX syndrome may exhibit an in-
creased risk of learning disabilities, delayed speech,
language skills, and motor skills, as well as, hypotonia.
Various behavioral and emotional difficulties are also
seen. [For a more complete listing of the physical, Sys-
temic, neurological, perceptual and oculo-visual char-
acteristics of Trisomy 8, Turner Syndrome, and Triple X
Syndrome see table 1.]
CASE REPORT
ST a 13-year-old Caucasian female in 7th grade present-
ed to the eye clinic for an ocular health evaluation and
a visual information processing assessment. ST was re-
ferred from the neurology service of Children’s Memorial
Hospital in Chicago for testing because her neurologist
believed that she had a spatial disorder due to a lack of
awareness of the world around her. Her developmental
age (Woodcock-Johnson) was at the 5.8 grade level. ST
had complaints of occasional itching that coincided with
her seasonal allergies. Her last vision evaluation was ap-
proximately one year where she received glasses for com-
pound myopic astigmatism. ST’s ocular history was sig-
nificant for myopic and astigmatism but negative for any
surgeries or injuries. She was born full term with no com-
plications to non-consanguineous Caucasian parents.
Her medical history was significant for Trisomy 8, Turners
Syndrome and Triple X Syndrome which was confirmed
with genetic testing at one year of age. ST is in a normal
classroom and receives special services in the form of ex-
tended time and tutoring for reading and math.
All comprehensive eye evaluation, visual efficiency exami-
nation and vision information processing findings can be
found in Tables 2-5.
Upon the completion of all testing a program of opto-
metric vision therapy was instituted. This program fol-
lowed commonly accepted guidelines that included
monocular, biocular, binocular and integrative/stabili-
zation phases. Vision information processing therapy
was also conducted to address any visual perceptual
anomalies noted. Multiple optometric vision therapy
procedures were instituted including those involving
various computer activities (Vision Building, HTS). After
27 OVT visits all oculo-visual and vision information pro-
cessing findings were at or above the expected level.
DISCUSSION
A comprehensive Medline literature search noted that
this is the first and only case report in the literature of
an individual with Trisomy 8, Turner’s syndrome, and
Triple X syndrome. After a comprehensive eye and vi-
sion and vision information processing assessment,
she was found to have numerous anomalies that were
amenable to optometric intervention. This case dem-
onstrates the potential efficacy of using optometric
vision therapy as a treatment for the many visual ef-
ficiency and vision information processing disorders
that individuals with various genetic disorders often
demonstrate. The primary care optometrist should di-
agnose and treat or refer out for treatment children
who present with the developmental disabilities diag-
nosed with these various syndromes so that appropri-
ate care can be instituted.
CONTACT INFORMATION
dmaino@ico.edu
www.ico.edu
Trisomy 8, Turner’s Syndrome and Triple X: A Case Report
Dominick M. Maino,OD, MEd, FAAO, FCOVD • Alicia Feis, OD • Illinois College of Optometry
2
Trisomy 8 Turner syndrome Triple X syndrome Our Patient
Physical
Low set or
malformed ears,
broad bulbous nose,
palatal deformity,
cryptorchidism,
prominent
forehead, enlarged
nares, full lips,
cupped ears,
camptodactyly of
fingers and toes
Webbed neck, short
stature,
mandibulofacial
disproportion,
cunitis valgus,
masculine chest and
trunk, late
appearance of
public and axillary
hair, amenorrhea,
ovarian dysgenesis,
develop at certain
periods of time
faster than normal
(anomalies in bone
maturation)
Large frontalles,
syndactyly, cleft lip,
gential, brain, ear
and kidney
malformations,
memingomyelocele
Normal stature
Systemic
Congenital
cardiovascular
disorders, urinary
tract abnormalities
Congential
deafness,
coartictation of
aorta
Heart defects
Neurological
Mild to moderate
mental retardation,
poor coordination
Mental retardation,
Deficits in short
term memory and
auditory memory,
delayed speech and
articulation
problems, slower
than normal growth
rate
Intellectual deficits;
slower than normal
growth rate
Perceptual
Visuospatial
deficits, poor spatial
abilities, memory
deficits, poor math
achievement
Verbal processing
deficit, poor recall
of order
information and
weakness in
rehearsal functions
Deficits in
visuospatial skills,
math skills
Ocular
Strabismus,
hypertelorism, deep
set eyes, ptosis
micropthalmia,
narrow palepebral
fissures, epicanthal
folds, optic atrophy,
chorioretinal
defects, optic
atrophy, uveitis,
heterochromia,
cataracts, bilateral
duanes, nystagmus,
foveal hypoplasia,
corneal opacities,
retinal
dystrophy(rare)
Exopthalmos,
hypertelorism,
ptosis, epicanthal
folds, blue sclera,
corneal nebulae,
cataracts,
amblyopia,
strabismus,
hypermetropia,
ptosis, bilateral
epicanthus
Iris coloboma,
microopthalmia,
hyperteleorism
Hyperteleorism,
Refractive error,
Oculomotor
dysfunction,
Binocular vision
dysfunction, allergies
4
Table 3
Initial Oculomotor and Binocular Findings
OD OS OU/Comments
Saccades +2 +2
Pursuits +2 +2
Stereopsis
+ Random
Dot
Cover Test Ortho/Ortho
Amplitudes 16.67 16.67
MEM +0.50 +0.50 Variable
+/- 2.00 flippers 14 cpm 14 cpm 3 cpm
NRA/ PRA +1.75/-1.00
Near Base In Ranges X/16/12
Near Base Out Ranges X/20/18
Color Vision
All Plates
Seen
All Plates
Seen
Table 4
Ocular Health
Tonometry 13mmHg OD and 14mmHg OS
Anterior Unremarkable OD/OS
Internal Unremarkable
Table 5
Vision Information Processing Before/After Optometric Vision Therapy
Test Initial Score Post OVT
Piaget Right-Left Awareness Significantly Below At or Above
Gardner Reversals Frequency Expected
TVPS
Visual Discrimination Significantly Below At or Above
Visual Memory Significantly Below At or Above
Visual Form Constancy Significantly Below At or Above
Visual Sequential Memory Significantly Below At or Above
Visual Figure Ground Significantly Below At or Above
Visual Closure Mildly Below At or Above
Visual Spatial Relations Expected Level
VMI Mildly Below At or Above
Wold Sentence Copy Expected Level
DEM Saccadic Dysfunction Expected Level
(Type IV)
Table 1: Physical, Systemic, Neurological, Perceptual and Oculo-visual
Characteristics of Individuals with Trisomy 8, Turner Syndrome and Triple X
Syndrome Compared to Our Patient
Table 2
Table 3: Initial Oculomotor and Binocular findings
Table 4
Table 5
3
Table 2
Refractive Findings
Habitual Refractive Error OD -3.00 -1.00 x 160 20/20 OS -3.00 -1.00 x 005 OS 20/25+ (Snellen)
Cycloplegic OD -3.00 -1.00 x 165 20/20 OS-2.75 -1.25 x 165 20/20.
Subjective OD -3.00 -1.00 x 165 20/20 OS -3.00 -1.25 x 165 20/20
Image 1: (left) Note facial characteristics of this child with Trisomy 8, Turner
Syndrome and Triple X Syndrome
Image 2: (right) ST conducting computer aided optometric vision therapy