Multimodal imaging and genetic characteristics of autosomal recessive bestrophinopathy.

PURPOSE: To report the ocular manifestations, multimodal imaging characteristics and genetic testing results of six patients with autosomal recessive bestrophinopathy (ARB). METHODS: This was an observational case series including 12 eyes of 6 patients who were diagnosed with ARB. All patients underwent a complete ophthalmic examination including refraction, slit-lamp biomicroscopy, dilated fundus examination, fundus autofluorescence, optical coherence tomography and electrooculography. BEST1 gene sequencing was also performed for all patients. RESULTS: The mean age was 22.8years and the male-female ratio was 0.50. All ARB patients had a hyperopic refractive error. A spectrum of fundus abnormalities, including multifocal yellowish subretinal deposits in the posterior pole, subfoveal accumulation of vitelliform material and cystoid macular edema, was observed. Fundus autofluorescence imaging demonstrated marked hyperautofluorescence corresponding to the yellowish subretinal deposits. Optical coherence tomography revealed serous retinal detachment, intraretinal cysts, brush border appearance caused by elongation of the outer segments of photoreceptors, and hyperreflective dome-shaped deposits at the level of the retinal pigment epithelium. Fundus fluorescein angiography showed hyperfluorescence with staining of the yellowish subretinal deposits. Electrooculography showed reduced Arden ratio in all patients. In addition, biallelic pathogenic variants in the BEST1 gene were detected in all patients. CONCLUSION: ARB is a rare autosomal recessive inherited retinal disorder with biallelic pathogenic variants in the BEST1 gene and may present with a wide range of ocular abnormalities that may not be easily diagnosed. Multimodal retinal imaging in conjunction with EOG is helpful to establish the correct diagnosis.

Multicenter study of pars plana vitrectomy for optic disc pit maculopathy: MACPIT study.

PurposeTo evaluate surgical intervention with pars plana vitrectomy (PPV) for correction of optic disc pit maculopathy (ODP-M).Patients and methodsRetrospective chart review from 13 centres of 51 eyes of 50 patients with ODP-M who underwent PPV between 2002-2014. Anatomic and final best-corrected visual acuity (BCVA) outcomes were evaluated for all cases with different adjuvant techniques.ResultsThere were 23 males and 27 females with median age 25.5 (6-68) years. Preoperative median foveal thickness was 694.5 (331-1384) µm and improved to 252.5 (153-1405) µm. Median BCVA improved from 20/200 (20/20000 to 20/40) to 20/40 (20/2000 to 20/20) with 20/40 or better in 31 eyes. Complete retinal reattachment was achieved in 44 eyes (86.3%) at 7.1 (5.9) months. The good surgical outcomes were achieved in different adjuvant groups. Median follow-up was 24 (6 to 120) months.ConclusionsThese results confirm the long-term effectiveness of PPV for ODP-M. Prospective studies are needed to determine the effectiveness of any adjuvant technique in improving the success of PPV for ODP-M.

Central retinal artery occlusion associated with ocular Behçet's disease.

PURPOSE: To report a case of central retinal artery occlusion associated with ocular Behçet's disease (BD) and briefly discuss retinal vasculitis due to BD. CASE REPORT: A 52-year-old man, diagnosed as BD 22 years ago and followed up with ocular involvement for six years presented with sudden loss of vision. The clinical diagnosis was central retinal artery occlusion. RESULTS: No other associated systemic diseases were found and the case was classified as a complication of retinal vasculitis due to BD. CONCLUSIONS: Although the arteries are rarely affected in retinal vasculitis due to BD, it has to be considered in the differential diagnosis of retinal arterial occlusions especially in countries where the disease is prevalent. To our knowledge, this is the first reported case of ocular BD complicated with central retinal artery occlusion.

Factors influencing treatment results in pseudophakic endophthalmitis.

PURPOSE: To evaluate risk factors, therapeutic approaches and factors associated with the poor visual outcome in pseudophakic endophthalmitis. METHODS: Data related to 28 cases with the diagnosis of endophthalmitis after cataract surgery and IOL implantation were gathered retrospectively. RESULTS: Preceding surgery was extracapsular cataract extraction (ECCE) in 18, phacoemulsification in 8 and scleral fixated intraocular lens implantation in two cases. Posterior capsule rupture and diabetes mellitus were considered to contribute to the development of endophthalmitis because of their high incidences (50% and 25%) in the study group. Microbiological studies from aqueous and vitreous humour were done in 85% of the cases and 58% were positive. S. Epidermidis was the most common organism, accounting for 50% of the isolates. All cases were given topical and systemic antibiotics. Inflammation was controlled by addition of subconjunctival antibiotics to this regimen in two, intravitreal antibiotic injection in 14, pars plana vitrectomy, total capsular and lens extraction and intravitreal antibiotic injection in three, lens exchange, intracapsular and intravitreal antibiotic injection in three cases. Six (21%) cases eventually needed evisceration. Visual acuity of 20/40 or better was achieved in 25%, and 20/100 or better in 64%. CONCLUSIONS: Treatment delay (p=0.039), capsular rupture complicating cataract surgery, especially with extracapsular cataract extraction (p=0.015), and initial visual acuity worse than hand motion (p=0.003) were strong predictors of poor visual outcome. The risk of endophthalmitis was not different forplanned ECCCE (0.26%) andphacoemulsification (0.27%) but the prognosis was better with the latter.