Transcript To See Or Not To See

Failed Eye Exam
Rochelle Cochrane, M.D.
January 13, 2006
Tracy Crnic, M.D.
Case Presentation
• 5 y/o Caucasian Female presents to pediatric
ophthalmology clinic after “failing” school eye
exam
• Mother has not noticed any eye problems up to
this point. Pt has had normal development.
• PMH, PSH, FHx – negative
• Birth Hx – normal pregnancy and birth without
complications
Case Presentation
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VA sc OD 20/400 OS 20/20
Stereo Vision 0/3 Animals, 0/9 Circles
Motility Full OU
OrthoTropic and OrthoPhoric
Bruckner sc brighter reflex OS
Pupils equal, round, reactive to light and
accommodation; No APD OU
Case Presentation
• PLE
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Normal Facial Features
LLL WNL OU
Conj Clear and Quiet OU
Cornea Clear and Compact OU
A/C Deep and Quiet OU
Iris Normal OU
Lens Clear OU
Case Presentation
Cyclopegic Retinoscopy
– OD –3.25 +1.75 x85
– OS +1.00 +0.50 x93
• Fundoscopic Exam
Differential Diagnosis
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Optic Nerve Coloboma
Morning Glory Anomaly
Peripapillary Staphyloma
Optic Disc Drusen
Megalopapilla
Optic Disc Dysplasia
Glaucomatous Cupping
Optic Pits
Differential Diagnosis
– Syndromes
• CHARGE
– Coloboma, Heart defects, choanal Atresia, Retarded growth and
development, Genital and Ear anomalies
• Aicardi – death usually occurs in first few years of life
– Multiple depigmented chorioretinal lacunae clustered around disc,
congenital disc anomalies
– Epileptic seizures, agenesis of corpus callosum, psychomotor
retardation
• Alagille
– Posterior Embryotoxon and retinal pigmentary changes, eccentric
pupils
– Jaundice, heart defects, poor school performance
Differential Diagnosis
– Syndromes
• Edwards
– Optic Atrophy, congenital glaucoma, corneal and lens opacities
– Failure to thrive, heart defects, mental retardation
• Lenz Microphthalmia
– Coloboma, microcornea, microphthalmia
– Severe renal dysgenesis, dental anomalies, severe speech
impairment, short stature
• Patau – fatal in first few months of life
– Coloboma, microphthalmia, cataracts
– Heart defects, cerebral hypoplasia, renal abnormalities, respiratory
involvement, GI disease, urogenital involvement
Fundus Exam
Morning Glory Anomaly
• Named after resemblance of optic nerve to the
Morning Glory flower
• Incidence is unknown, but very rare
• Congenital abnormality
• Sporadic, not inherited – colobomas run in
families
• Usually unilateral – colobomas bilateral
• More common in females – equal in coloboma and
staphyloma
Morning Glory Anomaly
• Pathogenesis unknown
– Abnormal closure of embryonic fissure (like coloboma)
– Abnormal development of distal optic stalk at its
junction with the primitive optic vesicle
• Disc enlarged with funnel-shaped excavation
centrally – coloboma inferior temporal,
staphyloma normal disc sunken and cup shaped
• Central core of whitish glial tissue, either elevated
or recessed, representing persistent hyaloid
remnants - unique
Morning Glory Anomaly
• Surrounding elevated annulus of chorioretinal
pigmentary disturbance – not seen in colobomas
• Increased number of blood vessels, difficult to
distinguish arteries from veins, which emerge in
radial pattern from disc like spokes on a wheel unique
• Unusual phenomenon of contractile movements of
the optic disc due to cuff of smooth muscle tissue
in terminal optic nerve
Morning Glory Anomaly
• Visual potential from 20/20 to NLP, usually
20/100 to 20/200
• Serous retinal detachment develops in about 30%
of patients
• Systemic associations rare
– Frontonasal dysplasia
• Hypertelorism, depressed nasal bridge, hare lip, or cleft palate
• Basal encephalocele, absent corpus callosum, or pituitary
deficiency
– Neurofibromatosis type 2
Work-up, Treatment
and Follow-up
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CT or MRI Head for possible Basal Encephalocele
Referral to pediatrician
Given full glasses prescription
Trial of patching, but should be discontinued if no
improvement
• Regular follow-up for retinal detachment
– Spontaneous reattachment has been reported
• Haik, et al. Ophthalmology. 1984 Dec;91(12):1638-1647
Results
• Obtained CT Head
– normal orbits, symmetrical and normal optic nerves, no
intracranial masses, fluid collections or cystic structures
• Referred to pediatrician
• Given Rx
– OD -3.25 +1.75 x85
– OS plano +0.50 x93
• Patching OS 7 hours/day for 5 days/week
• 5 weeks later VA cc OD 20/200 OS 20/20
• Follow up in 3 months
References
• Kanski, JJ. Clinical Ophthalmology: A Systemic Approach. 5th ed.
Elsevier Science Limited; Philadelphia. 2003.
• Dutton, GN. Congenital disorders of the optic nerve: excavations and
hypoplasia. Eye. 2004;18(11):1038-1048.
• Pollock, S. The morning glory disc anomaly: contractile movement,
classification, and embryogenesis. Doc Ophthalmol. 1987
Apr;65(4):439-60.
• Roy, FH. Ocular Syndromes and Systemic Diseases. 3rd ed. Lippincott
Williams and Wilkins; Philadelphia. 2002.
• Simon, JW, et al. Pediatric Ophthalmology and Strabismus. AAO; San
Francisco. 2005; 339.
• Chan, RT, et all. Morning glory syndrome. Clin Exp Optom.
2002;85(6):383-388.
• Pictures www.atlasophthalmology.com