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I.
Keratoconus
A. Case history and findings
B. Disease characteristics
1. most common corneal dystrophy in U.S.; usually bilateral
2. progressive corneal thinning creates corneal bulges in mid-cornea
3. refractive error changes -increasing astigmatism and myopia
4. later corneal swelling and scarring
5. onset – usually late teens early twenties symptoms – blur, glare sensitivity
6. possible causes - inherited corneal abnormality, eye injury, dz associations
C. Associated conditions - retinitis pigmentosa, retinopathy of prematurity, vernal
keratoconjunctivitis, Leber's congenital amaurosis, Ehlers-Danlos syndrome, Down
syndrome, osteogenesis imperfecta
D. Management - change Rx, specialty contacts, worst cases corneal transplant
E. Research - Collaborative Longitudinal Evaluation of Keratoconus Study (CLEK)
II.
Rheumatogenous Retinal Detachment
A. Case history and findings
B. Disease characteristics
1. Presenting symptoms – photopsia, visual field defect, floaters, loss of central
vision
2. Signs- cells and flare, low IOP, opaque appearance in retina, retinal break,
pigment in anterior chamger
C. Associated conditions -Stickler syndrome, Marfan syndrome, homocystinuria, and
Ehlers-Danlos syndrome,Inflammatory or infectious conditions such as acute
retinal necrosis syndrome, CMV retinitis ocular toxoplasmosis, pars planitis
D.
III.
Management1.Practice Guidelines – importance of dilation
2.Sealing break – variety of methods
Retinoblastoma
A.
Case history and findings
B.
Disease characteristics
1.Most common intraocular cancer of childhood
2.More than 90% affected children saved by early detection and tx
3.Onset- usually first years of life
4. 75% of patients first identified by “white pupil”
5.Dif Dx includes congenital cataract, Toxocara canis, Coat’s disease, and
persistent hypertrophic primary vitreous (PHPV)
C. Associated conditions
D. Management
IV.
Ocular Albinism
A.
Case history and findings
V.
B.
Disease characteristics
1.Inherited- eyes lack melanin pigment, skin and hair show normal/near-normal
coloration
2.Reduced visual acuity from 20/60 to 20/400 usually; as good as 20/25 in
African-Americans
3.Nystagmus, Strabismus, Photophobia
4.Blood tests not conclusive ; examination of parents and other family members
C.
D.
Associated conditions
Management – low vision and strabismus treatment
Hemangioblastoma
A. Case history and findings
B. Disease characteristics
1.hemangioendotheliomata - generally seen only in children
2.hemangioblastomas very rare in children
3.most occur in spinal cord or cerebellum
C. Associated conditions – von-Hippel-Landau Disease
D. Management – lab studies, imaging studies, surgical treatmenthormone
replacement therapy. The optical problems associated with SOD are
VI.
Myasthenia Gravis
A. Case history and findings
B. Disease characteristics
1. autoimmune disorder – antibodies produced by body’s own immune system
block, alter, or destroy acetylcholine receptors
2. first symptoms - weakness of eye muscles, difficulty in swallowing, slurred
speech
3. progression varies, chronically waxes and wanes
4. Diagnosis - intravenous administration of edrophonium chloride or Tensilon(r),
nerve conduction studies
C. Associated conditions – associated with other autoimmune conditions including
rheumatoid arthritis, Sjorgrens syndrome, lupus, and pernicious anemia
D. Management
1. anticholinesterase agents
2. immunosuppressive drugs
3. thymectomy
4. plasmapheresis
VII.
Orbital Pseudotumor
A.Case history and findings
B.Disease characteristics
1. non-infectious acute inflammation of orbits presents with orbital swelling or
mass
2. usually unilateral, but may be bilateral
3. may present as proptosis, eye pain, ptosis, lid edema, conjunctivitis with or
without chemosis, limitation of extraocular movements; may be accomparied
by fever, headaches and eye discharge
4. uncommon in children but reported in children as young as 3 mos
5. Dif Dx - orbital cellulitis, orbital abscess, tuberculoma, hematoma,
inflammation secondary to systemic diseases such as Grave's disease,
sarcoidosis, a retained foreign body, leukemia, lymphoma, optic neuritis,
tumors (primary, metastatic and pseudo)
6. Diagnostic testing- ultrasound or CT or orbits showing anterior orbital
inflammation next to the globe with scleral and choroidal thickening; biopsy
rules out lymphoma and leukemia
C.Associated conditions – autoimmune disorders
D.Management – corticosteroids
VIII.
Neurofibromatosis/ Von Recklinghausen's Disease
A. Case history and findings
B. Disease characteristics
1. genetic disorder causes tumors to grow along various nerves; can affect the
development other tissues such as bones and skin.
2. tumors grow anywhere on or in body; can lead to developmental abnormalities
and learning disabilties
3. cafe-au-lait spots, neurofibromas on or under skin; nerves throughout body
can be affected with tumors in brain, cranial nerves, or spinal cord
4. clinical criteria to diagnose
5. Ocular manifestationsa. Glioma primarily occurs in children younger than 5
years
b. most common symptom -asymmetric noncorrectable visual loss
c.Other signs- subtle peripheral field defects, color difficulties, optic nerve pallor,
or proptosis; may occur without visual acuity decrease
C.
Associated conditions – developmental abnormalities and learning disabilities,
scoliosis
D.
Management
1. medical evaluation including height, weight, head circumference, blood
pressure, vision and hearing, evidence of normal sexual development, signs of
learning disability and hyperactivity, and evidence of scoliosis,; skin
examination for café-au-lait spots and neurofibromas
2. blood tests and X-rays may be done to evaluate specific problems
3. healthy children monitored 6-or 12- month intervals
IX.
Sturge-Weber Syndrome/ Encephalotrigeminal Angiomatosis
A.
Case history and findings
B.
Disease characteristics
1. neurocutaneous disorder with angiomas involving the leptomeninges
(leptomeningeal angiomas [LAs]) and skin of the face, typically in ophthalmic
(V1) and maxillary (V2) branches of trigeminal nerve
2. effects vary, depending on location of LAs; may include seizures, hemiparesis
and hemianopia
3. estimates of glaucoma varies from 30 to 71%
4. Dx typical patient presents at birth with facial angiomas; dx may include
imaging other tests
C.
X.
Associated conditions - headaches; developmental disorders,
Management – varies; management of glaucoma; may include laser therapy
DeMorsiers Syndrome/ Septo-optic dysplasia
A. Case history and findings
B. Disease characteristics
1. malformation characterized by absence or dysgenesis of the septum
pellucidum associated with optic nerve hypoplasia.
2. hypothalamicpituitary dysfunction- characterized by growth retardation
secondary to inadequate secretion of GH and TSH
3. visual symptoms-reduced visual acuity and nystagmus
Dx- ophthalmologic examination in conjunction with neuroimagingAssociated
conditions –seizures, jaundice, neurological impairment
D. Management - Treatment symptom-based; may include hormone replacement, low
vision treatment