ABSTRACTBACKGROUND: 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

BACKGROUNDTRISOMY 8ETIOLOGY AND DIAGNOSISThe 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 ATTRIBUTESSystemic 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 CHARACTERISTICSTrisomy 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 SYNDROMEETIOLOGY AND DIAGNOSISTurner 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 ATTRIBUTESIndividuals 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 CHARACTERISTICSThe 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 SYNDROMEETIOLOGY AND DIAGNOSISIndividuals 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 CHARACTERISTICSThose 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 REPORTST 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.

DISCUSSIONA 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 INFORMATIONdmaino@ico.eduwww.ico.edu

Trisomy 8, Turner’s Syndrome and Triple X: A Case ReportDominick M. Maino,OD, MEd, FAAO, FCOVD • Alicia Feis, OD • Illinois College of Optometry

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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

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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

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Table 4

Ocular Health

Tonometry 13mmHg OD and 14mmHg OS

Anterior Unremarkable OD/OS

Internal Unremarkable

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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

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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 SyndromeImage 2: (right) ST conducting computer aided optometric vision therapy