Transcript Best Disease - University of Louisville Department of Ophthalmology

Grand Rounds
Best Disease
Mark Sherman MD
University of Louisville
Department of Ophthalmology and Visual Sciences
04/04/2014
Subjective
CC: Distorted vision x several months
HPI: 45 year old white male presented to general clinic
with complaint of worsening distortion of vision in
both eyes for several months. Patient stated he had
noticed a deterioration in his vision in his early 30s but
the distortion was new over the past several months.
Patient denied any other ocular complaints.
POH: None
PMH: COPD
Meds: Inhalers, Prednisone
FH: Uncle: Best Dz, Grandfather: AMD
Exam
BCVA:
OD
20/25
OS
20/25
Pupils:
53
53
No APD
IOP:
EOM:
14
14
Full OU
Anterior Segment
SLE:
L/L
 Conjunctiva
 K
 AC
 I/L
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OD
OS
WNL
WNL
WNL
WNL
WNL
WNL
WNL
WNL
WNL
WNL
DFE
Bilateral round, yellow lesions involving the fovea
OCT
OD
OS
Bilateral subretinal lesions with preservation
of the retinal architecture
Assessment/Differential Diagnosis
Assessment: 45 year old white male with bilateral
“yolk-like” subretinal lesions
DDx:
1) Adult Vitelliform Dystrophy
2) Best Disease
Adult Vitelliform Pattern Dystrophy
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Caused by mutations in the RDS/peripherin gene
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Characterized by:
Yellow subfoveal lesions that are bilateral
 Round or oval shape
 Typically one-third disc diameter in size
 Often contain a central pigmented spot
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Adult Vitelliform Pattern Dystrophy
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Usually appears in the fourth to sixth decade of life
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Presenting symptoms include: mild blurring of vision
and metamorphospia
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Over time the lesions fade and leave an area of RPE
atrophy
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Visual prognosis is guarded and is directly related to the
size of the lesion and its location within the macula
Best Disease
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Autosomal dominant maculopathy
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Caused by mutations in the Best1 (VMD2) gene on
chromosome 11 which codes for the protein bestrophin
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Bestrophin: functions as a transmembrane chloride channel
in the basolateral plasma membrane on the RPE
The dysfunctional ion transport leads to accumulation of
lipofuscin
Best Disease
Affected individuals present with a yellow, yolk-like
(vitelliform) macular lesion in childhood or early
adulthood
 The lesion eventually breaks down, leaving a mottled
geographic atrophic appearance
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Best Disease
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Diagnosis:
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Primarily a clinical diagnosis
EOG: Always abnormal
ERG: Typically normal
Prognosis:
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Visual prognosis is usually good with most patients
maintaining 20/30 acuity
Choroidal neovascularization does occur in approximately
20% of cases
Best Disease vs Adult Vitelliform
Dystrophy
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Lesion size: Usually larger in Best disease, typically 1/3 disc
diameters in adult vitelliform dystrophy

Age of presentation: Childhood to early adulthood in Best
disease and typically between the fourth and sixth decade
in adult vitelliform dystrophy
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Electro-oculogram (EOG): Abnormal in best disease and
normal in adult vitelliform dystrophy
Intravitreal bevacizumab for choroidal
neovascularization associated with Best’s Disease
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Case report of a 27 year old woman who presented with
20/200 vision in her right eye; was found to have
intraretinal hemorrhage in the macula with a neurosensory
detachment
The left eye showed a vitelliform lesion in the macula
Best disease was confirmed with EOG
Patient was given a single dose of intravitreal Avastin
Four weeks after treatment the vision had improved to
20/25 and remained stable for 12 months of follow up
References
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BCSC: Retina and Vitreous. Vitelliform Degenerations. Pgs: 236-237
Boon CJ, Levering BJ, Leroy BP, Hoyng CB, et al. The spectrum
of ocular phenotypes caused by mutations in BEST1 gene. Prog
Retin Eye Res. 2009;28(3):187-205
Fishman GA, Baca W, Alexander KR, et al. Visual acuity in
patients with Best vitelliform macular dystrophy. OphthalmologyI.
1993;100(11):1665-1670
Petrukhin K, Koisti MJ, et al. Identification of the gene
responsible for Best macular dystrophy. Nat Genet.
1998;19(3)241-247.
Velazquez-Villoria D, Macia C, et al. Intravitreal bevacizumab
for choroidal neovascularization associated with Best’s Disease.
Arch Soc Esp Opht. 2014.