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Grand Rounds Best Disease

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

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Grand Rounds Best Disease

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  1. Grand RoundsBest Disease Mark Sherman MD University of Louisville Department of Ophthalmology and Visual Sciences 04/04/2014

  2. 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

  3. Exam ODOS BCVA: 20/25 20/25 Pupils: 53 53 No APD IOP: 14 14 EOM: Full OU

  4. Anterior Segment SLE:ODOS • L/L WNL WNL • Conjunctiva WNL WNL • K WNL WNL • AC WNL WNL • I/L WNL WNL

  5. DFE Bilateral round, yellow lesions involving the fovea

  6. OCT OD OS Bilateral subretinal lesions with preservation of the retinal architecture

  7. Assessment/Differential Diagnosis Assessment: 45 year old white male with bilateral “yolk-like” subretinal lesions DDx: 1) Adult Vitelliform Dystrophy 2) Best Disease

  8. Adult Vitelliform Pattern Dystrophy • Caused by mutations in the RDS/peripherin gene • 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

  9. Adult Vitelliform Pattern Dystrophy • Usually appears in the fourth to sixth decade of life • Presenting symptoms include: mild blurring of vision and metamorphospia • Over time the lesions fade and leave an area of RPE atrophy • Visual prognosis is guarded and is directly related to the size of the lesion and its location within the macula

  10. Best Disease • Autosomal dominant maculopathy • Caused by mutations in the Best1 (VMD2) gene on chromosome 11 which codes for the protein bestrophin • Bestrophin: functions as a transmembrane chloride channel in the basolateral plasma membrane on the RPE • The dysfunctional ion transport leads to accumulation of lipofuscin

  11. 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

  12. Best Disease • Diagnosis: • Primarily a clinical diagnosis • EOG: Always abnormal • ERG: Typically normal • Prognosis: • Visual prognosis is usually good with most patients maintaining 20/30 acuity • Choroidal neovascularization does occur in approximately 20% of cases

  13. Best Disease vs Adult Vitelliform Dystrophy • 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 • Electro-oculogram (EOG): Abnormal in best disease and normal in adult vitelliform dystrophy

  14. Intravitreal bevacizumab for choroidal neovascularization associated with Best’s Disease • 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

  15. References • 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.

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