Edouard Augstburger1, Raphaëlle Orès2, Saddek Mohand-Said3, Sarah Mrejen2, Chafik Keilani2, Aline Antonio4, Christel Condroyer4, Camille Andrieu2, José-Alain Sahel5, Christina Zeitz4, Isabelle Audo3. 1. Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Maladies Rares "dystrophies rétiniennes d'origine génétique," Département hospitalo-universitaire Sight Restore, Institut National de la Santé et de la Recherche Médicale, DHOS Centre d'Investigation Clinique 1423, Paris, France. Electronic address: edouard.augst@gmail.com. 2. Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Maladies Rares "dystrophies rétiniennes d'origine génétique," Département hospitalo-universitaire Sight Restore, Institut National de la Santé et de la Recherche Médicale, DHOS Centre d'Investigation Clinique 1423, Paris, France. 3. Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Maladies Rares "dystrophies rétiniennes d'origine génétique," Département hospitalo-universitaire Sight Restore, Institut National de la Santé et de la Recherche Médicale, DHOS Centre d'Investigation Clinique 1423, Paris, France; Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Institut de la Vision, Paris, France. 4. Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Institut de la Vision, Paris, France. 5. Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Maladies Rares "dystrophies rétiniennes d'origine génétique," Département hospitalo-universitaire Sight Restore, Institut National de la Santé et de la Recherche Médicale, DHOS Centre d'Investigation Clinique 1423, Paris, France; Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Institut de la Vision, Paris, France; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Abstract
PURPOSE: To describe outer retinal structure in patients with Best vitelliform macular dystrophy (BVMD) using spectral-domain optical coherence tomography (OCT) and correlate these results with best-corrected visual acuity (BCVA) and patient age. DESIGN: Retrospective cross-sectional study. METHODS: Patients with molecularly confirmed BVMD were compared with normal control subjects (NCs). A complete clinical evaluation was performed, including BCVA, fundus photography, spectral-domain OCT, and fundus autofluorescence. Spectral-domain OCT images were analyzed to determine the stage of the lesion, the central macular thickness (CMT), the foveal outer nuclear layer (ONL) thickness, and tomographic structural changes. RESULTS: Forty-two patients with BVMD (42 eyes) with a molecular diagnosis and 42 NCs (42 eyes) were included. Clinical stages (Gass clinical classification) were distributed as follows: 4.8% for stage 1, 23.8% for stage 2, 16.6% for stage 3, 45.2% for stage 4, and 9.5% for stage 5. The presence of subretinal fluid and vitelliform material was noted in 76% and 79% of the BVMD eyes examined, respectively, and was not associated with BCVA modification (P = .758 and P = .968, respectively). The median ONL thickness was significantly lower compared with the NCs (P < .001). BCVA was significantly correlated with stage (R = 0.710; P < .01), age (R = 0.448; P < .01), CMT (R = -0.411; P < .01), and ONL thickness (R = -0.620; P < .01). The disruption of the external limiting membrane and the ellipsoid zone was associated with a decreased BCVA (P < .001 for both). Among the 32 eyes with subretinal detachment, photoreceptor outer segment length was significantly correlated with BCVA (R = -0.467; P < .01) and ONL thickness (R = 0.444; P = < .01). CONCLUSION: This study shows the correlation between BCVA, age, and spectral-domain OCT features in patients with BVMD. ONL thickness as well as photoreceptor outer segment length are relevant functional correlates and outcome measures to follow photoreceptor impairments and disease progression.
PURPOSE: To describe outer retinal structure in patients with Best vitelliform macular dystrophy (BVMD) using spectral-domain optical coherence tomography (OCT) and correlate these results with best-corrected visual acuity (BCVA) and patient age. DESIGN: Retrospective cross-sectional study. METHODS:Patients with molecularly confirmed BVMD were compared with normal control subjects (NCs). A complete clinical evaluation was performed, including BCVA, fundus photography, spectral-domain OCT, and fundus autofluorescence. Spectral-domain OCT images were analyzed to determine the stage of the lesion, the central macular thickness (CMT), the foveal outer nuclear layer (ONL) thickness, and tomographic structural changes. RESULTS: Forty-two patients with BVMD (42 eyes) with a molecular diagnosis and 42 NCs (42 eyes) were included. Clinical stages (Gass clinical classification) were distributed as follows: 4.8% for stage 1, 23.8% for stage 2, 16.6% for stage 3, 45.2% for stage 4, and 9.5% for stage 5. The presence of subretinal fluid and vitelliform material was noted in 76% and 79% of the BVMD eyes examined, respectively, and was not associated with BCVA modification (P = .758 and P = .968, respectively). The median ONL thickness was significantly lower compared with the NCs (P < .001). BCVA was significantly correlated with stage (R = 0.710; P < .01), age (R = 0.448; P < .01), CMT (R = -0.411; P < .01), and ONL thickness (R = -0.620; P < .01). The disruption of the external limiting membrane and the ellipsoid zone was associated with a decreased BCVA (P < .001 for both). Among the 32 eyes with subretinal detachment, photoreceptor outer segment length was significantly correlated with BCVA (R = -0.467; P < .01) and ONL thickness (R = 0.444; P = < .01). CONCLUSION: This study shows the correlation between BCVA, age, and spectral-domain OCT features in patients with BVMD. ONL thickness as well as photoreceptor outer segment length are relevant functional correlates and outcome measures to follow photoreceptor impairments and disease progression.