1. Grand Rounds “Blurred Vision in a Young Male”
Mohammad Ali Sadiq, MD – PGY2
Nov 09, 2018

2. Patient Presentation CC HPI “Decreased vision in right eye”
31 year old white male with no past medical history presented with:
Decreased vision in OD for the past several months
No other symptoms.

3. History
Past Ocular Hx: Has been diagnosed with a retinal dystrophy in the past. Past Medical Hx: Non contributory Family Hx: Father had blindness Meds: None Allergies: None Social Hx: No smoking/alcohol/drugs ROS: Negative except as in the HPI

4. External Exam OD OS BCVA 20/150 20/30 Refraction +0.75 +0.60 x 50
Pupils
3→2mm, No rAPD
IOP
15 mmHg
EOM
Full
CVF

5. Anterior Segment Exam SLE OD OS External/Lids WNL Conj/Sclera
White and quiet
Cornea
Clear
Ant Chamber
Deep and quiet
Iris
Lens

6. Posterior Segment ExamOD OS
Nerve
Pink and Sharp.
C/D 0.3
Macula
Disciform scar with some RPE hyperplasia
Elevated region centrally with small membrane inferior to fovea and some yellowish deposits.
Vessels
Normal Caliber
Vitreous
Clear
Periphery
No Holes or Tears. Attached 360 Degrees.

7. Fundus Photographs - OU
Bilateral symmetric oval regions in central fibrotic scar tissue, in addition areas of RPE hyperplasia were seen in OD and some yellowish deposits are seen in OS

8. OCT - OD
Compatible with scar area on exam. Intraretinal fluid.

9. OCT - OS
Sub RPE fluid corresponding with a large PED with some hyperreflective deposits inferiorly.

10. Assessment
A 31 year old white male with a family history of legal blindness in father and bilateral symmetric macular lesions with secondary CNVM.
The patient had been previously diagnosed with Best’s disease.
EOG performed showed an arden ratio of 1.1 and a normal ERG.
Differential Diagnosis:
Macular Dystrophy
Best’s disease
Sorsby’s fundus dystrophy
Other pattern dystrophies
Adult-onset Vitelliform Dystrophy
Idiopathic CNVM
Central Serous Chorioretinopathy

11. Plan Diagnosis: Best’s disease with CNVM OU and disciform scar OD
Plan: Treat with Anti-VEGF injections OU

12. Best’s Disease Named after Dr. Friedrich Best in 1905
Hereditary retinal dystrophy involving the RPE
Characteristic bilateral yellow “egg-yolk” appearance of macula
Presents in childhood/early adulthood and is associated with a good visual prognosis.

13. Etiology Autosomal dominant pattern with variable expression
Causative gene BEST1 located on long arm of chromosome 11.
100 different mutations have been described.
Transmembrane protein bestrophin 1, located on basal aspect of plasma membrane of RPE cells
Ca sensitive chloride channel protein

14. Most common in individuals with European ancestry
No gender predilection
Onset is between 3-15 years , with an average of 6 years
However the condition is not detected until later in life when vision goes down

15. Diagnosis
Clinical appearance
Family history
Adjuvant testing

16. Stage I
Previtelliform: Normal macula or subtle RPE changes are seen

17. Stage II
Vitelliform: classic “egg-yolk” lesion. Normal vision or mild visual loss.

18. Stage III
Pseudohypopyon: layering of lipofuscein

19. Stage IV
Vitelleruptive: breakup of material gives “scrambled egg” appearance.

20. Stage V
Atrophic: Central RPE and retinal atrophy. Vision may range from 20/30 – 20/200.

21. CNV: This complication occurs in about
20% of patients.

22. The Stages of Best’s Disease

23. IMAGING

24. Imaging - FP

25. Fluorescein Angiography
Choroidal changes
Thinning of choriocapillaris
Dilation of choroidal vessels
Thickening of walls of outer vascular layers

26. OCT Choroidal changes Thinning of choriocapillaris
Dilation of choroidal vessels
Thickening of walls of outer vascular layers

27. OCT

28. Fundus Autofluorescence
Choroidal changes
Hypoautofluorescence corresponding to sub retinal fluid
Punctate hyperautofluorescence corresponding to elongated photoreceptor outer segments

29. OCT-A
Delayed filling in early phase
Large choroidal venous dilatation
Focal choroidal hyperfluorescence
Dansingani KK, Tan ACS, Gilani F, et al. Subretinal Hyperreflective Material Imaged With Optical Coherence Tomography Angiography. American journal of ophthalmology. 2016;169:

30. Diagnostic Testing
Electro-oculogram (EOG): Universally abnormal, with an Arden ratio (light:dark) of 1.3 or less.
Electro-retinogram (ERG): Completely normal.

31. Prognosis
Visual prognosis is good for at least the first 6 decades of life
Most patients retain reading vision in at least 1 eye
1. Spontaneous resolution in 3-4 months
2. PDT – using standard fluence -600 or reduced fluence -300 can be used.
3. Resolution in about 25% of cases is seen.

32. Management
No medical/surgical management
Anti-VEGF therapy for CNV

33. Purpose:
To describe the presenting features and functional outcomes in a series of patients with choroidal neovascular membrane complicating BEST1-related retinopathy (Best disease and autosomal recessive bestrophinopathy)
Methods:
Retrospective review of consecutive cases at a tertiary care eye hospital. 

34. RESULTS:
The median age at CNVM discovery was 15.5 years (range 6-72).
CNVM were active early in the disease course before vitelliruption.
Seven eyes were treated with intravitreal bevacizumab, 7 eyes were monitored
On average, patients required a single treatment (median = 1, range 1-10).
The median gain in visual acuity was greater in the treated versus the observed group-0.46 versus 0.17 decimalized units of Snellen acuity
A significant reduction in central macular thickness was evident in both groups, 150 μm (treated) and 104 μm (observed)
Active treatment was not associated with greater thinning than observation (P > 0.05 Mann-Whitney U test).
CONCLUSION:
There is a high rate of spontaneous recovery of BEST1-related choroidal neovascular membrane
Active treatment, here with intravitreal bevacizumab, is associated with better functional outcomes than observation alone

35. Acknowledgements
Niloofar Piri
Sidharth Puri

36. References
Dansingani KK, Tan ACS, Gilani F, et al. Subretinal Hyperreflective Material Imaged With Optical Coherence Tomography Angiography. American journal of ophthalmology. 2016;169:
Retina and Vitreous. BCSC series. 2.
4. The Retinal Atlas, Second Edition. Freund, K. Bailey, MD; Sarraf, David, MD; Mieler, William F., MD; Yannuzzi, Lawrence A., MD

37. Thank you