MACULAR HOLE–RELATED RETINAL DETACHMENT COMPLICATING AUTOSOMAL RECESSIVE BESTROPHINOPATHY: CLINICAL FEATURES, MULTIMODAL IMAGING, AND SURGICAL OUTCOME

To report a case of full-thickness macular-hole related retinal detachment in a patient with autosomal recessive bestrophinopathy.A 3-year-old boy presented for squint assessment. In the examination, there were typical features of autosomal recessive bestrophinopathy in the left eye and a macular hole-related retinal detachment in his right eye. Color fundus photography, autofluorescence, fundus fluorescence angiography, and spectral-domain optical coherence tomography were recorded.Optical coherence tomography of the right eye showed a full-thickness macular hole retinal detachment. The retina showed retinoschisis affecting the inner and outer nuclear layer at the fovea and parafoveal region. Also, hyperreflective dots were seen at the hole and on the inner retinal surface. The left eye showed subretinal fluid with stalactite-like extensions into the subretinal space, and hyperreflective material seen above the retinal pigment epithelium. Fundus autofluorescence showed hyperautofluorescence at the fovea of the right eye and punctate hyperautofluorescent spots in the mid-periphery of the left eye. After pars plana vitrectomy and temporal internal limiting membrane flap, the hole was closed and all the schitic cavities collapsed at the sixth-week follow-up visit.A full-thickness macular hole-related retinal detachment can develop in autosomal recessive bestrophinopathy in the pediatric age group. Pars plana vitrectomy with temporal internal limiting membrane flap may be helpful for successful surgical repair.