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GEPY 6911: Functional Implications of Visual Impairment
Session 8: Wednesday October 28, 2015: Syndromes and Associated Eye Conditions
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Agenda Questions from last week? CVI Assignment
Final Project/Presentation Syndromes and Associated Eye Conditions
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Introduction 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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Classification They can be classified according to the types of disorders they cause: Chromosomal Skeletal Developmental Connective Tissue Hearing They can also be classified according to how they cause their effect: Physcial/Chemical injuries Neural tube defects
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Chromosomal Disorders
Trisomy 21 Turner Syndrome
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Trisomy 21 (Down Syndrome)
Etiology Extra copy of chromosome 21 Most common single cause of human birth defects 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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Trisomy 21 (Down Syndrome)
Ophthalmic Signs and Symptoms 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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Trisomy 21 (Down Syndrome)
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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Turner Syndrome Etiology Systemic Signs and Symptoms
Absence of a set of genes on the X chromosome of affected females Systemic Signs and Symptoms 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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Turner Syndrome Ophthalmic Signs and Symptoms Treatment Ptosis
Strabismus Amblyopia Cataracts Red-green color blindness Dry eyes Treatment Monitoring of heart defects Calcium and Vit. D to prevent osteoporosis Cataract surgery Treatments for dry eyes
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Turner Syndrome Prognosis Can have a normal life
Require careful monitoring by a doctor
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Skeletal Disorders Crouzon/Apert Syndrome Treacher-Collins Syndrome
Goldenhar Syndrome Pierre-Robin Syndrome Marfan Syndrome Stickler Syndrome Cockayne Syndrome
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Crouzon/Apert Syndrome
Etiology Caused by premature fusion of the cranial sutures causing a skull deformity Sporadic mutations Autosomal dominant Systemic Signs and Symptoms 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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Crouzon/Apert Syndrome
Ophthalmic Signs and Symptoms 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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Crouzon/Apert Syndrome
Treatment No treatments exist Cosmetic surgeries Prognosis Generally good Can sometimes have high intracranial pressure which can cause death
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Treacher-Collins Syndrome
Etiology Caused by a defective protein Is hereditary Possible mutation on chromosome 5 Systemic Signs and Symptoms Small chin Steep angle of the lower jaw (breathing problems) Prominent nose Underdeveloped ears Hearing loss Heart defects
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Treacher-Collins Syndrome
Ophthalmic Signs and Symptoms 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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Treacher-Collins Syndrome
Prognosis Normal intelligence and life span Must be followed for any systemic complications
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Goldenhar Syndrome Etiology Systemic Signs and Symptoms Unknown
Sporadic occurrence, AD and AR inheritance 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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Goldenhar Syndrome 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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Goldenhar Syndrome Treatment Prognosis
Surgery can be done on the bones of the face Repair of ptosis, strabismus surgery, removal of larger dermoids Prognosis Dependent on associated complications
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Pierre-Robin Syndrome
Etiology Unknown AR inheritance Systemic Signs and Symptoms 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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Pierre-Robin Syndrome
Ophthalmic Signs and Symptoms Congential glaucoma High myopia Retinal detachment Congenital cataracts Microphthalmos Esotropia
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Pierre-Robin Syndrome
Treatment Treatment of systemic complications Respiratory/feeding problems Airway obstruction Treatment of glaucoma, cataracts, strabismus as needed Prognosis Depends on complications Mortality rates of up to 30% due to airway obstruction and feeding difficulties
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Marfan Syndrome Etiology Systemic signs and symptoms AD disorder
Mutation on chromosome 15 Systemic signs and symptoms Long fingers and toes Taller for age Dislocations of hips and mandible Cardiovascular defects
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Marfan Syndrome Ophthalmic Signs and Symptoms Lens dislocation
Large, flat corneas Myopia Cataract Miosis Glaucoma Retinal detachment Ptosis Strabismus Incomplete choroidal formation
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Marfan Syndrome Treatment Prognosis
Treatment of systemic complications Hormone therapy Heart surgery Correction of refractive errors and treatment of associated eye findings Prognosis Depends on severity of cardiovascular problems
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Stickler Syndrome Etiology Systemic Signs and Symptoms AD inheritance
Mutation on chromosome 12 Systemic Signs and Symptoms Flattened face Depressed nasal bridge Short nose Deafness Dental abnormalities Cleft palate Scoliosis Short sature Arthritis
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Stickler Syndrome Ophthalmic Signs and Symptoms 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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Stickler Syndrome Treatment Hip replacement Hearing aids
Correction of myopia Retinal detachment surgery Good prognosis Vision loss is most severe complication Arthritis can decrease quality of life in older patients
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Cockayne Syndrome Etiology Systemic Signs and Symptoms
Defect in a DNA repair mechanism AR inheritance Systemic Signs and Symptoms 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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Cockayne Syndrome Ophthalmic Signs and Symptoms
Salt-and-pepper retinal pigmentation Optic atrophy Corneal opacity Cataracts Hyperopia Strabismus Nystagmus Decreased lacrimation Photophobia
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Cockayne Syndrome Treatment Prognosis
Specific to specific complications See audiologist for hearing problems Ophthalmologist for eye problems Dentists for dental abnormalities Prognosis Not good Death usually occurs in adolescence or early adulthood
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Developmental Disorders
Bardet-Biedl Prader-Willi Syndrome Septo-Optic Dysplasia CHARGE Syndrome Alstrom
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Bardet-Biedl Etiology Systemic Signs and Symptoms Unknown
AR inheritance 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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Bardet-Biedl Ophthalmic Signs and Symptoms Treatment
RP or progressive pigmentary retinal degeneration or rod-cone dystrophy Nystagmus sometimes present Treatment No specific treatments Manage vision loss Obesity is resistant to treatment
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Prader-Willi Syndrome
Etiology Missing gene on chromosome 15 Missing genetic material on the father’s part of the chromosome Systemic Signs and Symptoms 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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Prader-Willi Syndrome
Ophthalmic Signs and Symptoms 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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Prader-Willi Syndrome
Prognosis Generally good Normal life span Complications, like obesity can shorten life expectancy and quality of life
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Septo-Optic Dysplasia/de Morsier Syndrome
Etiology Defect of normal embryological development Has been linked to young maternal age and in- utero cocaine exposure Rare familiar occurance Systemic Signs and Symptoms Pituitary deficiency (variable degrees) Sometimes seizures Low muscle tone Jaundice at birth Developmental delay
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Septo-Optic Dysplasia/de Morsier Syndrome
Ophthalmic Signs and Symptoms Optic nerve hypoplasia Nystagmus Strabismus Variable degrees of visual impairment Treatment Hormone replacement therapy for hormone deficiencies No treatment for ophthalmic symptoms Prognosis Dependent on the presence and severity of symptoms
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CHARGE Syndrome Etiology Systemic Signs and Symptoms
AD genetic disorder Systemic Signs and Symptoms 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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CHARGE Ophthalmic Signs and Symptoms Treatment Prognosis Coloboma
Micorophthalmos or anophthalmos Treatment Treatment of many medical and physical problems Prognosis Can have many life-threatening issues With advances in medical care, these children can survive and become healthy individuals
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CHARGE
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CHARGE
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Alstrom Etiology Systemic Signs and Symptoms
Caused by a defective gene, but it’s unknown how this gene causes the disorder AR inheritance Systemic Signs and Symptoms 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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Alstom Ophthalmic Signs and Symptoms Treatment Cone-rod dystrophy
Light sensitivity Treatment No specific treatment Treatment for different symptoms Diabetes medication Hearing aids Heart medication Thyroid hormone replacement Prognosis Good Dependent on associated symptoms
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Connective Tissue Disorders
Ehlers-Danlos Syndrome
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Ehlers-Danlos Syndrome
Etiology Genetic defect in collagen and connective tissue synthesis and structure Can be AR, AD or X-linked recessive Systemic Signs and Symptoms 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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Ehlers-Danlos Syndrome
Ophthalmic Signs and Symptoms 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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Ehlers-Danlos Syndrome
Treatment No specific treatment exists Consult ophthalmologist and genetic counsellor Refrain from heavy lifting, contact sports or anything that puts stress on joints Prognosis Normal In Type IV, life expectancy is to about 50 years of age
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Physical/Chemical Injury
Fetal Alcohol Syndrome
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Fetal Alcohol Syndrome
Etiology Women who drink heavily during their pregnancy will produce a child with the features of FAS
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Fetal Alcohol Syndrome
Systemic Signs and Symptoms Craniofacial abnormalities Mid-face hypoplasia Low nasal bridge Thin upper lip Cleft palate Flat philtrum CNS and neurobehavioral anomalies Microcephaly Developmental delay Siezures ADHD Cardiovascular disorders Hearing loss
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Fetal Alcohol Syndrome
Ophthalmic Signs and Symptoms 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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Fetal Alcohol Syndrome
Prognosis Normal life span Quality of life can be impaired Mental health problems later in life Drug and alcohol addictions later in life
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Neural Tube Defects Spina Bifida
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Spina Bifida 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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Spina Bifida 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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Spina Bifida Ophthalmic Signs and Symptoms Treatments
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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Spina Bifida Prognosis Longer life span now with advances in treatment
Shunting of hydrocephalus can lead to near-normal intelligence
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Hearing Disorders Usher Syndrome
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Usher Syndrome Etiology Systemic Signs and Symptoms Unknown
AR inheritance Systemic Signs and Symptoms Sensorineural hearing loss Progressive Developmental delay Cerebral atrophy
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Usher Syndrome Ophthalmic Signs and Symptoms Night blindness
Peaks at 5 years and again between years Retinitis Pigmentosa Progressive vision loss VF become constricted Bull’s-eye maculopathy Cataract Vitreous detachment
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Usher Syndrome Treatment Prognosis No cure
Treatment of different complications Early detection is important Prognosis Visual and auditory prognosis will vary depending on severity No reports on changes in lifespan
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Conclusion 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
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Happy Halloween!!! Next class: Optics and Low Vision Devices
Quiz for tonight’s lecture is due by November 8, 2015
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