Blurred Vision in a Young Male

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

2. Patient Presentation CC “Decreased vision in right eye” HPI 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

5. Anterior Segment Exam

6. Posterior Segment Exam

7. Fundus Photographs - OU

8. OCT - OD

9. OCT - OS

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. DifferentialDiagnosis: • 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

26. OCT

27. OCT

28. Fundus Autofluorescence

29. OCT-A Dansingani KK, Tan ACS, Gilani F, et al. Subretinal Hyperreflective Material Imaged With Optical Coherence Tomography Angiography. American journal of ophthalmology. 2016;169:235-248.

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

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 • NiloofarPiri • 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;169:235-248. • Retina and Vitreous. BCSC series. 2. http://eyewiki.aao.org/Best_Disease 4. The Retinal Atlas, Second Edition. Freund, K. Bailey, MD; Sarraf, David, MD; Mieler, William F., MD; Yannuzzi, Lawrence A., MD

37. Thank you