Retinitis pigmentosa associated with a mutation in BEST1

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Retinitis pigmentosa associated with a mutation in BEST1 Lauren A. Dalvin, Jackson E. Abou Chehade, John Chiang, Josefine Fuchs, Raymond Iezzi, Alan D. Marmorstein American Journal of Ophthalmology Case Reports Volume 2, Pages 11-17 (July 2016) DOI: 10.1016/j.ajoc.2016.03.005 Copyright © 2016 The Authors Terms and Conditions

Fig. 1 Optos ultra-widefield fundus photos of the right (A) and left (B) eyes demonstrate extensive bone spicules and retinal vascular attenuation in the peripheral retina of both eyes. More magnified views of the bone spicules are shown in the insets. Montage color fundus photos of the right (C) and left (D) eyes further support the presence of extensive bone spicules in both eyes. American Journal of Ophthalmology Case Reports 2016 2, 11-17DOI: (10.1016/j.ajoc.2016.03.005) Copyright © 2016 The Authors Terms and Conditions

Fig. 2 Optical coherence tomography (OCT) of the right (A) and left (B) eyes taken in Denmark demonstrates mild cystoid macular edema (CME) in both eyes and epiretinal membrane with mild tractional retinoschisis in the left eye prior to the time of referral. OCT of the right (C) and left (D) eyes taken at Mayo Clinic demonstrates massive CME in both eyes that has progressed since the patient was examined in Denmark. OCT of the right (E) and left (F) eyes taken back in Denmark demonstrates resolution of CME in both eyes after 2–3 weeks of treatment with sustained-release oral acetazolamide 250 mg BID. American Journal of Ophthalmology Case Reports 2016 2, 11-17DOI: (10.1016/j.ajoc.2016.03.005) Copyright © 2016 The Authors Terms and Conditions

Fig. 3 Optical coherence tomography angiography of the right (A and B) and left (C and D) eyes reveals inner retinal microvascular capillary loss and remodeling in both eyes. American Journal of Ophthalmology Case Reports 2016 2, 11-17DOI: (10.1016/j.ajoc.2016.03.005) Copyright © 2016 The Authors Terms and Conditions

Fig. 4 Visual field testing (30-2, size V, FASTPAC) in the right (A) and left (B) eyes demonstrates constriction of the visual field within 20° in both eyes. Testing was highly reliable with no fixation losses, false positives, or false negatives in either eye. 60-4 testing using a size V target with FASTPAC algorithm revealed no viable peripheral vision between 30 and 60° in the right (C) or left (D) eyes. American Journal of Ophthalmology Case Reports 2016 2, 11-17DOI: (10.1016/j.ajoc.2016.03.005) Copyright © 2016 The Authors Terms and Conditions

Fig. 5 Full-field scotopic Ganzfeld electroretinogram (ERG) testing of both eyes (A–C) revealed attenuation of rod responses with depressed amplitudes throughout. Photopic full-field ERG (D–E) showed trace residual cone responses. Scotopic 0.2 cd-Sec/M2 showed diminished responses with time to 0.05 μV predicted at 29.9 years OD and 23.9 years OS. American Journal of Ophthalmology Case Reports 2016 2, 11-17DOI: (10.1016/j.ajoc.2016.03.005) Copyright © 2016 The Authors Terms and Conditions