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Petra Jo
WJB Dorn VA Medical Center, Columbia, SC
[email protected]
352-283-6923
August 31, 2012
AAO Residents Day – Case Report
Clinical Findings, Diagnosis and Management of Adult-Onset Macular Vitelliform
Dystrophy
Abstract
Adult-onset macular vitelliform dystrophy is a hereditary dystrophy, typically presenting in the
4th-6th decade with mild to moderate decrease in vision. This case report reviews the clinical
findings, diagnosis and management of patients with such condition.
Case History

Patient demographics
o
75-year-old white male presented as a new patient for an annual eye exam first in
January 2007, and has been followed by our optometry clinic for the past five
years

Chief complaint
o
Initially complained of a gradual decrease in vision in both eyes

Ocular, medical history
o
Unremarkable personal and family ocular history; no eye injuries, no eye
surgeries
o
Systemic history positive for renal cell carcinoma, hypertension, hyperlipidemia,
coronary artery disease, diabetes mellitus type 2, and nonspecific abnormal
findings in stool content
o
Surgical history included nephrectomy, hydrocelectomy, and prostate laser
surgery

Medications
o
No ocular medications
o
Systemic medications as of 8/2012

Simvastatin 40mg for hyperlipidemia

Glipizide 5mg for hyperglycemia

Amlodipine 10mg/Benazepril HCl 20mg for hypertension

Aspirin 81mg

Clopidogrel bisulfate 75mg for coronary artery disease
o
No known drug allergies
 Other salient information: None
Pertinent findings
 Clinical
o
Preliminary testing and visual acuity

Pupils were round, equal, responsive to light with no APD; extraocular
motility displayed full range of motion OU; confrontation fields were full
to finger count OD/OS

Best-corrected visual acuity (BCVA) was 20/25-2 OD and 20/40-2 OS,
with subjective refraction of +5.00-2.50x100 OD and +3.25-2.75x085 OS
(1/2007)

BCVA was 20/40+ OD and 20/50- OS, with subjective refraction of +3.752.25x110 OD and +2.00-2.00x085 OS (8/2012)
o
Anterior segment evaluation

Intraocular pressures were 17mmHg OD and OS with Goldmann
tonometry

Slit lamp exam revealed dermatochalasis OU, white and quiet bulbar and
palpebral conjunctiva OU, mild corneal edema with diffuse pigment on
endothelium OU, deep and quiet anterior chamber with no cells or flare
OU, and flat and intact iris with no neovascularization OU

Estimation of anterior chamber angles was 4/4 OU by Van Herrick
method
o
Posterior segment evaluation

Dilated with one drop of the following in both eyes: Tropicamide 1% and
Phenylephrine 2.5%

Dilated fundus exam revealed 2+ nuclear sclerosis of the lens OU, distinct
optic nerve heads with no pallor and cup-to-disc ratios of 0.3/0.3 OU,
normal vessels OU, and flat and intact peripheral retina OU

Macula of the right eye was flat and intact with disruption of the retinal
pigment epithelium (RPE) inferior to fovea, approximately one-half of
disc diameter in size. Macula of the left eye displayed a yellow, wellcircumscribed lesion at fovea, approximately one-third of disc diameter in
size and negative Watzke-Allen sign. No macular hemorrhage, exudates,
drusen or choroidal neovascular membrane (CNVM) were noted. Macular
findings have appeared stable OU since 1/2007.

Physical: None

Laboratory studies: None

Radiology studies: None

Others:
o
Photos/Fluorescein angiography (FA): left eye showed no auto-fluorescence of
the macular lesion, but displayed later hyperfluorescence corresponding to the
subfoveal yellow lesion; no evidence of a CNVM OU (*color, red-free and FA
photos to be included)
o
Multifocal electroretinogram (mfERG): great central response with pericentral
abnormality OD; central and pericentral abnormality OS (*printouts to be
included)
o
Stratus optical coherence tomography (OCT) of macula: normal macular scan
with central thickness of 228 microns OD; subfoveal hyperreflective lesion within
o
the RPE and central macular thickness of 208 microns OS (*printout to be
included)
Cirrus OCT to be scheduled for 9/2012
Differential diagnosis

Primary/leading
o
Adult-onset macular vitelliform dystrophy1

Presents in the 4-6th decade with bilateral, symmetrical, round or oval,
slightly elevated subfoveal deposits about one-third of disc diameter in
size

Others
o
Age-related macular degeneration (ARMD)2,3,4

Common misdiagnosis for adult-onset macular vitelliform dystrophy

Differentiate from leading diagnosis by clinical findings, OCT and FA
o
Best’s disease1,5

Early/juvenile onset

Larger macular “egg-yolk” lesion ranging from half to two disc diameters
in size during childhood

Differentiate from leading diagnosis by age of onset, larger lesion size and
poorer visual prognosis
o
Impending macular hole1

Flattened foveal depression with an underlying yellow spot (stage 1a)

Differentiate from leading diagnosis by OCT imaging
o
Central serous chorioretinopathy1

Typically presents as a unilateral dome-shaped detachment of sensory
retina

Differentiate from leading diagnosis by OCT and FA
o
Other pattern dystrophies1

Butterfly-shaped macular dystrophy: presents in the 2nd-3rd decade with
yellow pigment at the fovea in triradiate manner

Multifocal pattern dystrophy simulating fundus flavimaculutus: presents in
the 4th decade with multiple, widely-scattered, yellow lesions

Macroreticular pattern dystrophy: presents during early childhood with
pigment granules and later reticular degeneration into periphery

Differentiate from leading diagnosis by age of onset, clinical findings,
OCT and FA
o
Other macular dystrophies1

Central areolar choroidal dystrophy: present in the 3rd-4th decade with
foveal granularity and RPE atrophy, progressing to geographic atrophy
and poor visual prognosis by 6-7th decade

Differentiate from leading diagnosis by clinical findings and age of onset
Diagnosis and discussion

Elaborate on the condition
Presents in the 4-6th decade with or without symptoms and bilateral, symmetrical,
round or oval, slightly elevated, subfoveal deposits about one-third of disc
diameter in size1
o
May have associated retinal cuticular or large drusen1,6,7
o
Condition has been genetically linked and may result from the mutation of RDS
gene and BEST1 gene1
o
The vitelliform lesions result from accumulation of lipofuscin and photoreceptor
debris in the subretinal space8,9
o
Progression involves disruption and alterations in the IS/OS interface, pigment
migration, and fluid accumulation10,11
o
May progress to geographic atrophy or present with rare complications including
CNVM, full-thickness macular hole and retinal detachment 2,4,12
o
Electrodiagnostic testing, including electroretinogram (ERG) and
electrooculogram (EOG), may be normal or mildly abnormal2,13
o
FA appearance varies depending on disease progression; initial stages show
localized hyperfluorescence and later stages show the typical central
hypofluorescence with surrounding rings of hyperfluorescence.1,2,14

The subfoveal, yellow lesion corresponds to area of hyperfluorescence on
FA1
o
OCT shows well-defined, central, subretinal thickening with hyperreflective
dome-shaped deposit within or lying on the retinal pigment epithelium (RPE)
with slight separation between the RPE and photoreceptor layers2,3,10,13

No cascade or shadowing optical effects, which differs from ARMD
where fibrosis results in shadowing2
Expound on unique features
o
The patient’s decreased visual acuity is likely from combination of macular
findings, nuclear sclerosis and corneal edema secondary to Fuch’s corneal
dystrophy
o
The patient’s condition is not bilaterally symmetrical

Unilateral vitelliform maculopathy phenotypes have been reported15

The patient’s condition may by atypical or a variant of adult-onset macular
vitelliform dystrophy
o

Treatment, management

Treatment and response to treatment
o
Patient’s macular dystrophy continues to be monitored, with patient reporting
good visual function as of 8/2012
o
Fuch’s corneal dystrophy has been managed by sodium chloride 5% QID OU
o
Spectacles prescribed to correct refractive error/presbyopia
o
Cataracts have been monitored since 2007, and recent referral was made for
cataract surgery consultation
o
Currently no effective treatment for adult-onset macular vitelliform dystrophy,
however good visual prognosis2
o
Patients should be monitored with home Amsler grid and annual, or twice per
year, dilated fundus exams, OCT, photos, and possibly electrodiagnostics3
Low vision devices and therapy may be beneficial to patients with decreased
vision from complications such as CNVM3,4
Refer to research where appropriate
o
Intravitreal anti-VEGF injections with ranibizumab or bevacizumab have been
shown to improve BCVA, metamorphopsia symptoms, or the condition’s
morphology in patients with misdiagnosed or suspected CNVM;2,4,16 however one
case study did not find any improvements17
o
Photocoagulation, corticosteroids, vitamins A, and vitamin E have not shown any
treatment benefits4
o
Photodynamic therapy (PDT) with verteporfin has not shown any benefits and
even showed negative long-term effects12,18, 19
Bibliography, literature review encouraged
o
1. Kanski J, Bowling B. Clinical Ophthalmology: A Systematic Approach. 7th ed.
Edinburgh: Elselvier; 2011:531,629,665-70.
o
2. Gallego-Pinazo R, Dolz-Marco R, Pardo-Lopez D, et al. Primary intravitreal
ranibizumab for adult-onset foveomacular vitelliform dystrophy. Graefes Arch
Clin Exp Ophthalmol. 2011;249(3):455-8.
o
3. Rodman J, Duchnowski E. Optical coherence tomography in adult-onset
vitelliform dystrophy. Optometry. 2011;82(3):148-51.
o
4. Montero JA, Ruiz-Moreno JM, De La Vega C. Intravitreal bevacizumab for
adult-onset vitelliform dystrophy: a case report. Eur J Ophthalmol.
2007;17(6):983-6.
o
5. Hodges VM, McGonigal WM. Adult vitelliform maculopathy management:
from anti-VEGF to low vision. Review of Optometry. 2012. Available:
http://www.revoptom.com/content/c/35171/. Accessed Aug 20, 2012.
o
6. Finger RP, Issa PC, Kellner U, et al. Spectral domain optical coherence
tomography in adult-onset vitelliform macular dystrophy with cuticular drusen.
Retina. 2010;30(8):1455-64.
o
7. Lima LH, Laud K, Freund KB, et al. Acquired vitelliform lesion associated
with large drusen. Retina. 2012;32(4):647-51.
o
8. Dubovy SR, Hairston RJ, Schatz H, et al. Adult-onset foveomacular pigment
epithelial dystrophy. Retina. 2000;20(6):638-49.
o
9. Arnold JJ, Sarks JP, Killingsworth MC, et al. Adult vitelliform macular
degeneration: a clinicopathological study. Eye. 2003;17:717-26.
o
10. Puche N, Querques G, Benhamou N, et al. High-Resolution spectral domain
optical coherence tomography features in adult onset foveomacular vitelliform
dystrophy. Br J Ophthalmol. 2010;94(9):1190-6.
o
11. Querques G, Forte R, Querques L, et al. Natural course of adult-onset
foveomacular vitelliform dystrophy: a spectral domain optical coherence
tomography analysis. Am J Ophthalmol. 2011;152(2):304-13.
o
12. Do P, Ferrucci S. Adult-onset foveomacular vitelliform dystrophy. Optometry.
2006;77(4):156-66.
o
13. Schatz P, Abrahamson M, Eksandh L, et al. Macular appearance by means of
OCT and electrophysiology in members of two families with different mutations
in RDS (the peripherin/RDS gene). Acta Ophthalmol Scand. 2003;81:500-7.
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14. Jarc-Vidmar M, Kraut A, Hawlina M. Fundus autofluorescence imaging in
Best’s vitelliform dystrophy. Klin Monbl Augenheilkd. 2003;220(12):861-7.
15. Subash M, Rotsos T, Wright GA, et al. Unilateral vitelliform maculopathy: a
comprehensive phenotype study with molecular screening of BEST1 and PRPH2.
Br J Ophthalmol. 2012;96(5):719-22.
16. Lee JY, Lim J, Chung H, et al. Spectral domain optical coherence tomography
in a patient with adult-onset vitelliform dystrophy treated with intravitreal
bevacizumab. Ophthalmic Surg Lasers Imaging. 2009;40(3)319-21.
17. Kandula S, Zweifel S, Freund KB. Adult-onset vitelliform detachment
unresponsive to monthly intravitreal ranibizumab. Ophthalmic Surg Lasers
Imaging. 2010;41(Suppl):S81-4.
18. Ergun E, Costa D, Slakter J, et al. Photodynamic therapy and vitelliform
lesions. Retina. 2004;24(3):399-406.
19. Abengoechea-Hernandez S, Elizalde-Montagus J, Fideliz de la Paz-Dalisay
M. Photodynamic therapy in adult-onset foveomacular vitelliform dystrophy.
Arch Soc Esp Oftalmol. 2007;82(2):117-20.
Conclusion

Clinical pearls, take away points if indicated
o
Clinical findings of adult-onset macular vitelliform dystrophy include usually
bilateral, symmetrical, small, subfoveal, yellow lesions; typically presents in the
4th-6th decade
o
Diagnosis is based on clinical appearance and diagnostic testing, which may
include OCT, FA, and electrodiagnostics
o
No treatment available and patients should be monitored once or twice per year;
anti-VEGF injection may be beneficial especially if CNVM is suspected; low
vision devices and services should be offered to patients with severe vision loss