Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.

Autosomal recessive bestrophinopathy (ARB) has been reported as clinically heterogeneous. Eighteen patients (mean age: 22.5 years; 15 unrelated families) underwent ophthalmological examination, fundus photography, fundus autofluorescence, and optical coherence tomography (OCT). Molecular genetic testing of the BEST1 gene was conducted by the chain-terminating dideoxynucleotide Sanger methodology. Onset of symptoms (3 to 50 years of age) and best-corrected visual acuity (0.02-1.0) were highly variable. Ophthalmoscopic and retinal imaging defined five phenotypes. Phenotype I presented with single or confluent yellow lesions at the posterior pole and midperiphery, serous retinal detachment, and intraretinal cystoid spaces. In phenotype II fleck-like lesions were smaller and extended to the far periphery. Phenotype III showed a widespread continuous lesion with sharp peripheral demarcation. Single (phenotype IV) or multifocal (phenotype V) vitelliform macular dystrophy-like lesions were observed as well. Phenotypes varied within families and in two eyes of one patient. In addition, OCT detected hyperreflective foci (13/36 eyes) and choroidal excavation (11/36). Biallelic mutations were identified in each patient, six of which have not been reported so far [c.454C>T/p.(Pro152Ser), c.620T>A/p.(Leu207His), c.287_298del/p.(Gln96_Asn99del), c.199_200del/p.(Leu67Valfs*164), c.524del/p.(Ser175Thrfs*19), c.590_615del/p.(Leu197Profs*26)]. BEST1-associated ARB presents with a variable age of onset and clinical findings, that can be categorized in 5 clinical phenotypes. Hyperreflective foci and choroidal excavation frequently develop as secondary manifestations.

An optical coherence tomography study of residual subfoveal fluid after successful pars plana vitrectomy in patients with diabetic tractional macular detachment.

PURPOSE: To analyze the prevalence of residual subfoveal fluid (RSF) after pars plana vitrectomy in patients with proliferative diabetic retinopathy complicated by tractional detachment of the macula and the effect of RSF on the postoperative visual outcome. METHODS: This study was a prospective observational case study of the optical coherence tomography (OCT) records of 23 patients (24 eyes) with macula-off diabetic tractional retinal detachment (TRD) who underwent successful 23-gauge pars plana vitrectomy between July 2012 and December 2015. RESULTS: The prevalence of RSF on OCT examination was 100% at 1 and 2 months, 91.7% at 3 months, 70.8% at 6 months, 25.0% at 9 months and 4.2% at 12 months after surgery (p < 0.001). Internal drainage of subretinal fluid (SRF) during primary surgery was performed in 13 (54.2%) eyes. The significant risk factor that was predictive of long-standing RSF was non-drainage of SRF (p = 0.04). CONCLUSION: Persistent RSF is a common OCT finding after clinically successful vitrectomy surgery for the treatment of macula-off diabetic tractional retinal detachment. Internal drainage of SRF with active aspiration can be attempted if intraoperative breaks are found or if faster recovery is required. To date, observation seems to be the best option.