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Resident’s Day at Academy 2012, Phoenix: Case Report Submission
Jill Kronberg, OD
Pediatrics Resident 2012-2013
School of Optometry
University of California, Berkeley
Abstract:
This case report reviews Norrie’s disease, an X-linked recessive disease. Emphasis is
placed on the differential diagnosis for leukocoria in infants, evaluating functional vision,
and optometric participation in the management of infants with Norrie’s disease.
I. Case History
a. Demographics: 1 year 1 month old Hispanic male presenting to our clinic
August 24, 2012.
b. Chief Complaint: Referred by a vision impairment specialist with Blind
Babies Foundation for a functional visual assessment as well as a 2nd opinion
regarding SCL and glasses.
i. Pt presented to clinic without any corrective lenses.
1. Pt was fit in SCL for aphakia in August 2012 but patient’s
mother was unable to insert the lenses in that morning. Pt
does not currently have a spectacle Rx.
ii. Mother reports improvement with nystagmus
c. Ocular History:
i. 4 months old (October 27, 2011) presented to pediatric
ophthalmologist with complaint of child not tracking or fixating.
Diagnosed with Norrie’s disease with associated findings of bilateral
congenital cataracts OD>OS, funnel-shaped retinal detachments OU,
and nystagmus.
ii. VEP performed 11/17/2011: flat tracing OU, OD, OS. 0 dB flicker 1.9
Hertz shows a flat wave form. Suggestive of poor cortical activity
iii. Fundus OD
1. Fibrovascular stalk with broad base extending from ONH.
Scattered lacunaue in mid-periphery, atrophic peripheral
retina, (-) RD, severe vessel attenuation with no identifiable
arcades or macular structure
iv. Fundus OS
1. Fibrovascular stalk with broad base extending from ONH.
Scattered lacunaue in mid-periphery, atrophic peripheral
retina, (-) RD, severe vessel attenuation with no identifiable
arcades or macular structure
v. B-scans and Fundus photos obtained
d. Ocular Surgeries: January 2012-bilateral cataract extraction
e. Refractive correction: SCL for aphakia first dispensed August 2012
f. Medications: None
g. Medical History: Norrie’s disease
II. Pertinent Findings
a. Clinical:
i. Retinoscopy without cycloplegia
1. Initial:
a. OD: +16.75 -2.75 x180
b. OS: difficult to judge (PCO)
2. Re-test:
a. OD: +13.00 -1.50 x180
b. OS: difficult to judge (PCO)
ii. Visual Acuity: tested with +16.00 DS trial lenses OU
1. UCBSO PL Grating Acuity OU: 0.4/12M or 1 cycle/degree
grating acuity
a. Reduced 6 times from norms
2. Cardiff Cards OU: Plate B @ 50 cm ~20/300 picture acuity
3. Sweep Visual Evoked Potential @ 50 cm: 5.2 cycles/degree
grating acuity
a. Reduced 5 times from norms
iii. Contrast: tested with +16.00 DS OU
1. Mr. Happy contrast test: 8% Michelson contrast
2. Sweep VEP: 1.7% Michelson contrast
iv. Versions
1. Relatively full; cross fixates with OD
v. Cover Test
1. Variable alternating ET; OD preferred fixation
a. Utilizes cross fixation: looks over nose
b. Unable to quantify based on poor fixation
vi. Visual Fields
1. Binocular confrontation visual fields with penlight toy:
relatively full. Pt prefers to look down and to the right.
b. Physical:
i. Behavioral
1. Accurately finds sounds and pulls to stand
2. Actively looks for mother
3. Happy demeanor
ii. Anterior Segment
1. Aphakia OU
a. Dense PCO OS, resulting pupil ~1 mm in diameter in
superior pupil
iii. Posterior Segment
1. Unable to evaluate secondary to small pupils and decreased
cooperation
2. Dilation deferred at this time because followed by OMD
III. Differential Diagnosis1,4,6
a. Retinoblastoma1,2
i. Primary: based on severity
1. Most common intraocular malignancy in childhood2
2. Leukocoria
3. Strabismus
4. Unilateral
b. Persistent hyperplastic primary vitreous5,6
i. Fibrotic white stalk extending from optic nerve head to posterior lens
ii. Generally unilateral
c. Congenital cataract1
i. Leukocoria
d. Coat’s disease1,6
i. Exudative proliferative vasculopathy
ii. Possible retinal detachments
e. Retinopathy of prematurity1,6
i. Abnormal vessel proliferation
ii. Possible retinal detachments
iii. Leukocoria
iv. Bilateral
IV. Diagnosis and discussion
a. Diagnosis: Norrie’s disease with uncorrected hyperopia (aphakia)
b. What is Norrie’s disease?
i. X-linked recessive disorder affecting the Norrie disease protein
(NPD)3
1. NPD encodes protein norrin, responsible for regulating retinal
development and hyaloid vessel regression
ii. Incomplete retinal vascularization
1. Bilateral
2. Symmetric
iii. Affected Populations
1. Males only
2. No associated race
iv. Anterior structure appearance
1. Birth
a. Normal: cornea, lens, intraocular pressure, globe size6
2. Infancy through Childhood
a. Opacification of the lens
b. Atrophy of iris
i. Posterior synechiae
ii. Anterior synechiae
c. Corneal opacification
i. Band keratopathy
d. Decreased intraocular pressure
e. Phthisis bulbi
v. Posterior structure appearance
1. Birth
a. Grayish-yellow fibrovascular mass extending from
posterior lens to ONH
i. AKA psuedogliomas1
b. Retinal detachments
i. Potentially partial, will progress to full during
the first few months of life1,3,7
vi. Vision
1. Non-existent to impaired6
vii. Onset
1. Birth to 3 months6
viii. General Treatment
1. Without full RD: surgery or laser therapy
2. Enucleation in cases of increased IOP (rare)
ix. Management
1. Yearly eye examinations
2. Refer for genetic counseling
3. Advise routine hearing evaluations
4. Behavioral therapy as indicated per individual6
c. Associated Conditions
i. Progressive hearing loss
1. Norrin protein involved with inner ear vascular maintenance3
2. Hearing loss around late teens
3. High frequencies affected first, speech discrimination well
preserved6
4. Similar to tinnitus
5. Waxes and wanes
6. Cochlear implants effective
ii. Peripheral Vascular Disease
1. Varicose veins, peripheral venous stasis ulcers, erectile
dysfunction
2. Onset after age 15
3. Erectile dysfunction does not improve with pharmacologic
intervention7
iii. Cognitive/Behavioral
1. 30-50% of patients have developmental delays6
a. Similar
to
Autism/Autism-like
or
pervasive
developmental disorder7
iv. Neurological
1. Seizure disorders
a. Not commonly associated with Norrie’s but still
prevalent7
V. Treatment, management
a. Continue yearly health checks with Ophthalmologist
b. Continue contact lens wear and regular follow-up
c. Rx single vision spectacles for wear when SCL not used
i. Provide patient with best-corrected vision to utilize remaining vision.
ii. Consider bifocal when pt is older
d. Encourage regular hearing screenings through primary care physician
e. Continue early intervention services with Blind Babies Foundation. The
patient is legally blind and therefore qualifies for services usually through
the Department of Rehabilitation
f. Provided a report summarizing findings of functional vision examination and
importance of constant refractive error correction for aphakia.
VI. Clinical Pearls
a. Leukocoria: multiple etiologies
b. Important to assess ocular health in all infants
c. Determine functional vision to qualify patient for optimal services
VII. Works Cited
1.
Damasco, Veronica C., MD,MC, and Daniel J. Dire, MD. "A Child with
Leukocoria." Pediatric Emergency Care 27.12 (2011): 1170-174. Print.
2.
Dimaras, Helen, Kahaki Kimani, and Elizabeth A. O Dimba. "Retinoblastoma."
Lancet 379 (2012): 1436-446. Print.
3.
Drenser, Kimberly A., Alice Fecko, Wendy Dailey, and Michael T. Trese. "A
Characteristic Phenotypic Retinal Appearance In Norrie Disease." Retina 27.2
(2007): 243-46. Print.
4.
Gogate, Parikshit, Clare Gilbert, and Andrea Zin. "Severe Visual Impairment
and Blindness in Infants: Causes and Opportunities for Control." Middle East
African Journal of Ophthalmology 18.2 (2011): 109-14. Print.
5.
Shastry, Barkur S. "Persistent Hyperplastic Primary Vitreous: Congenital
Malformation of the Eye." Clinical & Experimental Ophthalmology (2009): n.
pag. Print.
6.
Sims, Katherine B. "Summary." NDP-Related Retinopathies. U.S. National
Library of Medicine, 30 July 1999. Web. 23 Aug. 2012.
<http://www.ncbi.nlm.nih.gov/books/NBK1331/?report=printable>.
7.
Smith, Sharon E., Thomas E. Mullen, Dionne Graham, Katherine B. Sims, and
Heidi L. Rehm. "American Journal of Medical Genetics Part A." - Volume 158A,
Issue
8.
N.p.,
11
July
2012.
Web.
22
Aug.
2012.
<http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.v158a.8/issuetoc>.