Transcript Syndromes and Associated Eye Conditions

Session 8: Wednesday October 28, 2015:
Syndromes and Associated Eye Conditions
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Questions from last week?
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CVI Assignment
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Final Project/Presentation
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Syndromes and Associated Eye Conditions
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There are a number of syndromes with
systemic manifestations that have ophthalmic
implications
Patients with these syndromes are seen in
ophthalmology clinics to asses and treat their
ocular symptoms
Students with these syndromes may be
referred to you!
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They can be classified according to the types
of disorders they cause:
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Chromosomal
Skeletal
Developmental
Connective Tissue
Hearing
They can also be classified according to how
they cause their effect:
◦ Physcial/Chemical injuries
◦ Neural tube defects
Trisomy 21
Turner Syndrome
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Etiology
◦ Extra copy of chromosome 21
◦ Most common single cause of human birth defects
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Systemic Signs and Symptoms
◦ Short stature
◦ Developmental delay
◦ Flattened facial appearance
 Depressed nasal bridge
◦ Congenital Heart defects
◦ Prevalence of diseases such as leukemia,
hypothyroidism and diabetes mellitus
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Ophthalmic Signs and Symptoms
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Upward slant of palpebral fissures
Strabismus
Nystagmus
Keratoconus
Cataracts
Myopic refractive errors
Treatment
◦ Require multi-systemic evaluations
◦ Correcting refractive error, removing cataracts, etc.
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Prognosis
◦ Serious heart problems and higher risk of leukemia
may lead to early death
◦ Adults with DS have an increased risk of dementia
◦ Generally they are living longer than ever!
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Etiology
◦ Absence of a set of genes on the X chromosome of
affected females
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Systemic Signs and Symptoms
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Short stature
Prone to osteoporosis and renal problems
Webbed, wide neck and low hairline
Scoliosis
Hypertension
Hyperthyroidism
Infertility
Swollen hands and feet
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Ophthalmic Signs and Symptoms
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Ptosis
Strabismus
Amblyopia
Cataracts
Red-green color blindness
Dry eyes
Treatment
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Monitoring of heart defects
Calcium and Vit. D to prevent osteoporosis
Cataract surgery
Treatments for dry eyes
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Prognosis
◦ Can have a normal life
◦ Require careful monitoring by a doctor
Crouzon/Apert Syndrome
Treacher-Collins Syndrome
Goldenhar Syndrome
Pierre-Robin Syndrome
Marfan Syndrome
Stickler Syndrome
Cockayne Syndrome
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Etiology
◦ Caused by premature fusion of the cranial sutures
causing a skull deformity
◦ Sporadic mutations
◦ Autosomal dominant
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Systemic Signs and Symptoms
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Cranium is egg-shaped
Crowding of the teeth
Syndactyly of the fingers and toes (Apert)
Heart and Kidney malformations (Apert)
Short stature
Hearing impairments
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Ophthalmic Signs and Symptoms
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Proptosis (caused by abnormal orbital structure)
Optic nerve compression
Strabismus
Hyperopic refractive errors
Iris colobomas
Nystagmus
Ptosis
Retinal detachments
Congenital cataracts
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Treatment
◦ No treatments exist
 Cosmetic surgeries
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Prognosis
◦ Generally good
◦ Can sometimes have high intracranial pressure
which can cause death
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Etiology
◦ Caused by a defective protein
◦ Is hereditary
◦ Possible mutation on chromosome 5
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Systemic Signs and Symptoms
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Small chin
Steep angle of the lower jaw (breathing problems)
Prominent nose
Underdeveloped ears
Hearing loss
Heart defects
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Ophthalmic Signs and Symptoms
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Strabismus
Downward slant of the eyes
Absence of lashes on the lower lid margin
Sometimes coloboma
Treatments
◦ Genetic counselling
◦ Monitoring heart defects
◦ Cosmetic surgery
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Prognosis
◦ Normal intelligence and life span
◦ Must be followed for any systemic complications
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Etiology
◦ Unknown
◦ Sporadic occurrence, AD and AR inheritance
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Systemic Signs and Symptoms
◦ Facial asymmetry due to abnormal development of
the underlying facial bones
◦ Growths of skin and cartilage around the ear
◦ Hearing loss is common
◦ Cleft lip/palate
◦ Malformations of the spine and skull
◦ Sometimes developmental delay
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Ophthalmic Signs and Symptoms
◦ Overgrowth of normal tissues on the outer coats of
the eye
◦ Dermoids
◦ Upper lid colobomas
◦ Ptosis
◦ Narrowing of the palpebral fissures
◦ Lacrimal system problems
◦ Retinal and optic nerve problems
◦ Strabisums
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Treatment
◦ Surgery can be done on the bones of the face
◦ Repair of ptosis, strabismus surgery, removal of
larger dermoids
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Prognosis
◦ Dependent on associated complications
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Etiology
◦ Unknown
◦ AR inheritance
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Systemic Signs and Symptoms
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Cardiovascular problems
Hyperextendible joints
Small mandible
Foot and hip abnormalities
Scoliosis
CNS problems (50% of cases)
 Language delay, epilepsy and hydrocephalus
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Ophthalmic Signs and Symptoms
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Congential glaucoma
High myopia
Retinal detachment
Congenital cataracts
Microphthalmos
Esotropia
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Treatment
◦ Treatment of systemic complications
 Respiratory/feeding problems
 Airway obstruction
◦ Treatment of glaucoma, cataracts, strabismus as
needed
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Prognosis
◦ Depends on complications
◦ Mortality rates of up to 30% due to airway
obstruction and feeding difficulties
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Etiology
◦ AD disorder
◦ Mutation on chromosome 15
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Systemic signs and symptoms
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Long fingers and toes
Taller for age
Dislocations of hips and mandible
Cardiovascular defects
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Ophthalmic Signs and Symptoms
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Lens dislocation
Large, flat corneas
Myopia
Cataract
Miosis
Glaucoma
Retinal detachment
Ptosis
Strabismus
Incomplete choroidal formation
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Treatment
◦ Treatment of systemic complications
 Hormone therapy
 Heart surgery
◦ Correction of refractive errors and treatment of
associated eye findings
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Prognosis
◦ Depends on severity of cardiovascular problems
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Etiology
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Systemic Signs and Symptoms
◦ AD inheritance
◦ Mutation on chromosome 12
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Flattened face
Depressed nasal bridge
Short nose
Deafness
Dental abnormalities
Cleft palate
Scoliosis
Short sature
Arthritis
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Ophthalmic Signs and Symptoms
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Myopia (8-18 diopters)
Retinal detachments
75% can develop myopia before 20 years of age
Cataracts
Less frequently
 Lens dislocation
 Glaucoma
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Treatment
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Hip replacement
Hearing aids
Correction of myopia
Retinal detachment surgery
Treatment
◦ Good prognosis
◦ Vision loss is most severe complication
◦ Arthritis can decrease quality of life in older
patients
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Etiology
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Systemic Signs and Symptoms
◦ Defect in a DNA repair mechanism
◦ AR inheritance
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Progressive degeneration of CNS and PNS
Dwarfism apparent by one year of age
Microcephaly
Developmental delay
Hearing loss
Thin, dry hair
Narrow nose
Sunken eyes
Dental abnormalities
Photosensitive skin
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Ophthalmic Signs and Symptoms
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Salt-and-pepper retinal pigmentation
Optic atrophy
Corneal opacity
Cataracts
Hyperopia
Strabismus
Nystagmus
Decreased lacrimation
Photophobia
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Treatment
◦ Specific to specific complications
 See audiologist for hearing problems
 Ophthalmologist for eye problems
 Dentists for dental abnormalities
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Prognosis
◦ Not good
◦ Death usually occurs in adolescence or early
adulthood
Bardet-Biedl
Prader-Willi Syndrome
Septo-Optic Dysplasia
CHARGE Syndrome
Alstrom
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Etiology
◦ Unknown
◦ AR inheritance
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Systemic Signs and Symptoms
Obesity
Developmental delay
Kidney abnormalities
Can sometimes have extra fingers/toes or fusion of
fingers/toes
◦ Speech difficulties
◦ Diabetes mellitus
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Ophthalmic Signs and Symptoms
◦ RP or progressive pigmentary retinal degeneration
or rod-cone dystrophy
◦ Nystagmus sometimes present
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Treatment
◦ No specific treatments
◦ Manage vision loss
◦ Obesity is resistant to treatment
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Etiology
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Systemic Signs and Symptoms
◦ Missing gene on chromosome 15
◦ Missing genetic material on the father’s part of the
chromosome
◦ Feeding difficulties in infants resulting in low weight until 6
months of age
◦ Obesity occurs around age 2
◦ Extreme insatiable appetite
◦ Heart problems
◦ Diabetes mellitus
◦ Developmental delay
◦ Short stature
◦ Small hands and feet
◦ Cutaneous hypopigmentation
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Ophthalmic Signs and Symptoms
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Non-accommodative or infantile-type strabismus
Most have blue irides
Iris transillumination defects
Nystagmus (esp. on lateral gaze)
Myopia in ¼ of cases
RPE hypopigmentation
Foveal hypoplasia
Treatment
◦ Must be followed by multiple specialists
◦ Monitor their diet and be physically active
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Prognosis
◦ Generally good
◦ Normal life span
◦ Complications, like obesity can shorten life
expectancy and quality of life
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Etiology
◦ Defect of normal embryological development
◦ Has been linked to young maternal age and inutero cocaine exposure
◦ Rare familiar occurance
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Systemic Signs and Symptoms
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Pituitary deficiency (variable degrees)
Sometimes seizures
Low muscle tone
Jaundice at birth
Developmental delay
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Ophthalmic Signs and Symptoms
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Optic nerve hypoplasia
Nystagmus
Strabismus
Variable degrees of visual impairment
Treatment
◦ Hormone replacement therapy for hormone deficiencies
◦ No treatment for ophthalmic symptoms
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Prognosis
 Dependent on the presence and severity of symptoms
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Etiology
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Systemic Signs and Symptoms
◦ AD genetic disorder
◦ Choanal atresia – back of the nasal sinuses on one or
both sides is narrowed or doesn’t connect with the back
of the throat
◦ Cranial nerve abnormality – difficulty swallowing, facial
paralysis
◦ Heart defect
◦ Growth retardation
◦ Developmental delay
◦ Underdeveloped genitals
◦ Ear abnormalities
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Ophthalmic Signs and Symptoms
◦ Coloboma
◦ Micorophthalmos or anophthalmos
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Treatment
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Prognosis
◦ Treatment of many medical and physical problems
◦ Can have many life-threatening issues
◦ With advances in medical care, these children can
survive and become healthy individuals
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Etiology
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Systemic Signs and Symptoms
◦ Caused by a defective gene, but it’s unknown how this gene
causes the disorder
◦ AR inheritance
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Dark patches of skin
Deafness
Impaired heart function
Obesity
Progressive kidney failure
Slowed growth
Symptoms of type II diabetes
Hypothyroidism
Developmental delay
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Ophthalmic Signs and Symptoms
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Treatment
◦ Cone-rod dystrophy
◦ Light sensitivity
◦ No specific treatment
◦ Treatment for different symptoms
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Diabetes medication
Hearing aids
Heart medication
Thyroid hormone replacement
◦ Prognosis
 Good
 Dependent on associated symptoms
Ehlers-Danlos Syndrome
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Etiology
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Systemic Signs and Symptoms
◦ Genetic defect in collagen and connective tissue synthesis
and structure
◦ Can be AR, AD or X-linked recessive
◦ Stretchable skin
◦ Underlying vessels are diseased and visible through the
skin
◦ Fragile skin
◦ Poor wound healing
◦ Increased joint flexibility
◦ Scoliosis
◦ Respiratory defects
◦ Cardiac problems
◦ Low weight
◦ Short stature
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Ophthalmic Signs and Symptoms
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Found in Type VI ED Syndrome
Retinal detachment
Retinal hemorrhage
Glaucoma
Abnormal coloration of the sclera
In rare cases the globe can rupture
Myopia
Keratoconus
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Treatment
◦ No specific treatment exists
◦ Consult ophthalmologist and genetic counsellor
◦ Refrain from heavy lifting, contact sports or
anything that puts stress on joints
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Prognosis
◦ Normal
◦ In Type IV, life expectancy is to about 50 years of
age
Fetal Alcohol Syndrome
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Etiology
◦ Women who drink heavily during their pregnancy
will produce a child with the features of FAS
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Systemic Signs and Symptoms
◦ Craniofacial abnormalities
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Mid-face hypoplasia
Low nasal bridge
Thin upper lip
Cleft palate
Flat philtrum
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Microcephaly
Developmental delay
Siezures
ADHD
◦ CNS and neurobehavioral anomalies
◦ Cardiovascular disorders
◦ Hearing loss
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Ophthalmic Signs and Symptoms
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Short palpebral fissure
Monocular or asymmetric ptosis
Myopia is common
Strabismus (usually ET)
Optic nerve hypoplasia
Treatment
◦ Treatment of associated birth defects
◦ Medications to treat ADHD
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Prognosis
◦ Normal life span
◦ Quality of life can be impaired
 Mental health problems later in life
 Drug and alcohol addictions later in life
Spina Bifida
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Etiology
◦ Occurs when a growing fetus is not exposed to
enough folic acid between the 17th and 30th day of
gestation.
◦ The neural tube does not close completely or at all,
which causes an incomplete closure of the spinal
column
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Systemic Signs and Symptoms
◦ Hydrocephalus
◦ Spinal cord is not protected by the spinal column
causing the spinal cord to grow into a growth in the
back
◦ Partial paralysis
◦ Bladder/bowel control problems
◦ Learning disabilities
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Ophthalmic Signs and Symptoms
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Microphthalmus or anophthalmos
Choriodial coloboma
Atrophy of retinal ganglion cells and macula
Optic atrophy
Strabismus
Treatments
◦ Can be treated in-utero if detected early enough
◦ Shunts for hydrocephalus
◦ Continuous follow-up from a variety of specialists
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Prognosis
◦ Longer life span now with advances in treatment
◦ Shunting of hydrocephalus can lead to near-normal
intelligence
Usher Syndrome
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Etiology
◦ Unknown
◦ AR inheritance
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Systemic Signs and Symptoms
◦ Sensorineural hearing loss
 Progressive
◦ Developmental delay
◦ Cerebral atrophy
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Ophthalmic Signs and Symptoms
◦ Night blindness
 Peaks at 5 years and again between 15-20 years
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Retinitis Pigmentosa
Progressive vision loss
VF become constricted
Bull’s-eye maculopathy
Cataract
Vitreous detachment
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Treatment
◦ No cure
◦ Treatment of different complications
◦ Early detection is important
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Prognosis
◦ Visual and auditory prognosis will vary depending
on severity
◦ No reports on changes in lifespan
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There are a number of Syndromes that have
associated eye conditions
Think about all of the different functional
implications you’ve learned and how they
would apply to each case
Next class: Optics and Low Vision Devices
Quiz for tonight’s lecture is due by November 8, 2015