Case #72: A Family of Bestrophinopathies

Case #72: A Family of Bestrophinopathies – Page 76 of 76

Comments: Hi Dr. Sherman,Thank you for forwarding along Dr. Legge’s case series! This is quite interesting given the pedigree she has built and the beautiful images of the different family members she has. My comments/questions are below:The phenotype in the AR case, daughter E in family 2, is interesting given

Case #72: A Family of Bestrophinopathies – Page 76 of 762025-01-22T14:19:33+00:00

Case #72: A Family of Bestrophinopathies – Page 75 of 76

Author: Dr. Amanda Legge graduated from PCO at Salus University in 2012. She obtained an advanced studies in retina certification during her studies at PCO with additional coursework and retina-centric internships.Her retina interests include Age-related Macular Degneration, inherited retinal disease, and diabetic and hypertensive retinopathy. She is also a

Case #72: A Family of Bestrophinopathies – Page 75 of 762025-01-19T04:34:10+00:00

Case #72: A Family of Bestrophinopathies – Page 74 of 76

References:  Pasquay C. et al. Bestrophin I – phenotypes and functional aspects in Bestrophinopathies. Ophthalmic Genetics, Early Online, 1–20, 2013.Sepah, Yasir, et al. Fundus autofluorescence imaging: Fundamentals and clinical relevance. Saudi J Ophthal. 2014 Apr;28(2):111-6.Guziewicz K.E. et al. Bestrophinopathy: An RPE-Photoreceptor Interface Disease . Prog Retin Eye Res. 2017 May ;

Case #72: A Family of Bestrophinopathies – Page 74 of 762025-01-19T04:29:35+00:00

Case #72: A Family of Bestrophinopathies – Page 73 of 76

Benefits of Genetic Testing: There are potential benefits to knowing the underlying genetic cause of a person’s IRD. It may help confirm or refine a diagnosis. Knowing the mutated gene can help a person understand how the disease may affect their vision during their lifetime. It can also guide the testing

Case #72: A Family of Bestrophinopathies – Page 73 of 762025-01-19T04:26:55+00:00

Case #72: A Family of Bestrophinopathies – Page 72 of 76

My Retina Tracker: FREE Genetic Testing My Retina Tracker Registry is provided by the Foundation Fighting Blindness, a US-based non-profit organization with the mission to help find treatments and cures for the inherited retinal diseases.Foundation Fighting Blindness hosts My Retina Tracker RegistryFor eye care professionals - This offers free genetic testing

Case #72: A Family of Bestrophinopathies – Page 72 of 762025-01-19T04:26:15+00:00

Case #72: A Family of Bestrophinopathies – Page 71 of 76

Grandson, D, age 13 (10/2024): Visual AcuityOD      20/30OS      20/30 Optical Coherence TomographyOD: pseudohypopyon inferior to this scan, increase in subretinal fluid over timeOS: progressive disruption of vitelliform material, increase in subretinal fluid over time OD OS Optovue Solix

Case #72: A Family of Bestrophinopathies – Page 71 of 762025-01-19T04:24:28+00:00

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Grandson, D, age 13 (10/2024): Visual AcuityOD      20/30OS      20/30 Fundus AutofluoresenceOD: disruption of vitelliform material with layering pseudohypopyonOS: central egg yolk Best lesion with progressive disruption of vitelliform material Optos Daytona

Case #72: A Family of Bestrophinopathies – Page 70 of 762025-01-19T04:19:44+00:00

Case #72: A Family of Bestrophinopathies – Page 69 of 76

Grandson, D, age 13 (10/2024): Visual Acuity OD      20/30 OS      20/30 Color Fundus PhotographyOD: continued vitelliform material disruption with layering pseudohypopyon. Mild RPE disturbances seen.OS: vitelliform material OS early disruption, early pseudohypopyon. Mild RPE disturbance central.

Case #72: A Family of Bestrophinopathies – Page 69 of 762025-01-21T14:03:55+00:00

Case #72: A Family of Bestrophinopathies – Page 68 of 76

Grandson, D, age 4: baseline imaging (07/2014): Visual AcuityOD      20/25OS      20/25 Optical Coherence TomographyOD: central Best lesion with disruption of vitelliform material and subretinal fluidOS: central Best vitelliform egg yolk lesion with early disruption of vitelliform material and minimal subretinal fluid OD OS

Case #72: A Family of Bestrophinopathies – Page 68 of 762025-01-19T04:11:44+00:00

Case #72: A Family of Bestrophinopathies – Page 67 of 76

Grandson, D, age 4: baseline imaging (07/2014): Visual AcuityOD      20/25OS      20/25 Fundus AutofluoresenceOD: central egg yolk Best lesion with early pseudohypopyon formationOS: central egg yolk Best lesion with early disruption of vitelliform material Optos Daytona

Case #72: A Family of Bestrophinopathies – Page 67 of 762025-01-19T04:08:00+00:00