Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer

Purpose: To describe congenital stationary night blindness (CSNB) with negative electroretinogram, hypoplastic discs, nystagmus and thinning of the inner nuclear layer (INL). Methods: Retinal structure was analyzed qualitatively with spectral domain optical coherence tomography and wide field imaging. Retinal function was evaluated with full-field electroretinography (ffERG). Molecular genetic testing included next-generation sequencing (NGS) of the known genes involved in CSNB. Results: Patients presented with CSNB presented with nystagmus, high myopia, hypoplastic discs and negative ffERG with no measurable rod response. The retinas appeared normal and automated segmentation of retinal layers demonstrated a relative reduction of thickness of the INL. There was no significant change in the ffERG after prolonged 2 hour dark adaptation compared to standard 30 minute dark adaptation. Affected family members harboured the homozygous 1-bp deletion c.2394delC in exon 18 of the TRPM1 gene, whereas their unaffected parents were heterozygous carriers. Conclusions: This data expands the genotype and phenotype spectrum of CSNB. The lack of improvement of rod responses after prolonged dark adaptation, together with thinning of the INL, is compatible with postreceptoral transmission dysfunction in the bipolar cells. Such knowledge may prove useful in future development of treatment for outer retinal dystrophies, using opsin genes to restore light responses in survivor neurons in the inner retina

Frequency, Genotype, and Clinical Spectrum of Best Vitelliform Macular Dystrophy: Data From a National Center in Denmark

PURPOSE: To estimate the prevalence, genotype, and clinical spectrum of Best vitelliform macular dystrophy (Best disease). DESIGN: Retrospective epidemiologic and clinical and molecular genetic observational study. METHODS: SETTING: National referral center. PARTICIPANTS: Forty-five individuals diagnosed with Best disease. OBSERVATION PROCEDURES: Retrospective review of patients diagnosed according to clinical findings and sequencing of BEST1. Patients with recently established molecular genetic diagnosis were followed up including multifocal electroretinography (mfERG), spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) imaging. MAIN OUTCOME MEASURES: BEST1 mutations, SD-OCT and FAF findings, mfERG amplitudes, prevalence estimate of Best disease. RESULTS: BEST1 mutations described previously in Danish patients with Best disease are reviewed. In addition, we identified a further 8 families and 1 sporadic case, in whom 6 BEST1 missense mutations were found, 4 of which are novel. The mutation c.904G>T (p.Asp302Asn) was identified in members of 4 unrelated families. Structural alterations ranged from precipitate-like alterations at the level of the photoreceptor outer segments (OS) to choroidal neovascularization. The extent of the former correlated with the reduction of retinal function. A prevalence estimate of Best disease in Denmark based on the number of diagnosed cases was 1.5 per 100 000 individuals. CONCLUSIONS: Our data expand the mutation spectrum of BEST1 in patients with Best disease. Alterations of the OS overlying lesions with subretinal fluid are similar to those seen in central serous retinopathy and may indicate impaired turnover of OS. Our frequency estimate confirms that Best disease is one of the most common causes of early macular degeneration. (Am J Ophthalmol 2012;154:403-412. (c) 2012 by Elsevier Inc. All rights reserved.

Preservation of macular structure and function after intravitreal aflibercept for choroidal neovascularization associated with serpiginous choroiditis

Lund Univ, Scane Cty Univ Hosp, Dept Ophthalmol, Clin Sci, Lund, SwedenKing Khalid Eye Specialist Hosp, Vitreoretinal Div, Riyadh, Saudi ArabiaOFTALMOLOGICA, San Miguel De Tucuman, ArgentinaFed Univ Sao Paulo UNIFESP, Dept Ophthalmol, Sao Paulo, BrazilJohns Hopkins Univ, Sch Med, Wilmer Eye Inst, Retina Div, Baltimore, MD 21205 USADepartment of Ophthalmology, Universidade Federal de São Paulo (UNIFESP), Sao Paulo, BrazilWeb of Scienc

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1

Purpose: To describe the clinical and genetic findings in two consanguineous families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the bestrophin-1 (BEST1) gene. Methods: Ophthalmologic examination was performed in eight members of two families originating from Spain and Denmark. Mutation screening was performed using the Vitelliform Macular Dystrophy mutation array from Asper Biotech, and by the directed genomic sequencing of BEST1. Results: Two homozygous mutations were detected in these families. Mutation c.936C>A (p.Asp312Glu) has been reported previously in a Danish family; here, we describe four additional individuals in this family demonstrating findings compatible with a severe dominant BVMD, albeit with reduced penetrance in heterozygotes. In the Spanish family, a novel homozygous missense mutation in exon 4, c. 388 C>A (p.Arg130Ser), was identified in the siblings. Homozygous siblings demonstrated evidence of multifocal vitelliform retinopathy, whereas heterozygous family members presented findings ranging from isolated reduction of the electrooculogram Arden ratio to normal values on all clinical parameters. Conclusions: As demonstrated in these consanguineous families, a great clinical variability is associated with homozygous mutations in BEST1, ranging from severe dominant BVMD with reduced penetrance in heterozygotes to autosomal recessive bestrophinopathy

Minimally interface vitrectomy for rhegmatogenous retinal detachment with a single break in young patients

Purpose: This study evaluates a new surgical technique consisting of minimal vitreous removal under air (minimal interface vitrectomy; MIV) to reduce postoperative complications while preserving the ability to address surgical factors at the retinal break. Methods: This retrospective analysis examined the outcomes of minimal interface vitrectomies in consecutive cases, with a minimum 12-month follow-up period, of primary rhegmatogenous retinal detachment (RRD), recurrent RRD after pars plana vitrectomy (PPV), or failed surgery after primary scleral buckling surgery (SBS). Results: Twelve eyes of 12 patients with RRD underwent MIV. The total surgical duration was 190-300 s (mean, 245.25 s). Eight (66.7%) eyes were treated with cryotherapy, and 4 (33.3%) with endolaser to seal the retinal break. Successful, complete retinal reattachment was achieved in all eyes and maintained during follow-up. No intra- or postoperative complications occurred and no patients developed inflammation or cataract during follow-up. Conclusion and importance: We effectively removed traction and subretinal fluid and treated breaks with endolaser or cryotherapy by using a novel minimal interface vitrectomy technique in this selected population

Incidence of intraocular lens exchange after cataract surgery

Intraocular lens (IOL) exchange after cataract surgery is unusual but may be associated with suboptimal visual outcome. The incidence of IOL exchange has not been consistently estimated. Such information is invaluable when counseling patients prior to cataract surgery. We examined the incidence of, and indications and risk factors for, IOL exchange after cataract surgery. We also assessed visual outcome of eyes that had an IOL exchange. A cohort design was used to estimate the incidence of IOL exchange and a case-control design to identify factors associated with it. All phacoemulsification surgeries with IOL (n = 17415 eyes) during 2010-2017 and those that had a subsequent IOL removal or replacement during the same time period were identified (n = 34 eyes). The incidence of IOL exchange was 2 per 1000 surgeries (95% confidence interval [CI] 1 to 3) over 8 years. Eyes that underwent subsequent IOL removal or replacement were compared with eyes that had cataract surgery only (n = 47) across demographic and clinical characteristics. In a binary logistic regression analysis, two factors were significantly associated with IOL exchange/removal: an adverse event during cataract surgery (adjusted odds ratio [aOR] 19.45; 95% CI 4.89-77.30, P \u3c 0.001) and a pre-existing ocular comorbidity (aOR 10.70; 95% CI 1.69-67.63, P = 0.021). The effect of gender was marginally significant (P = 0.077). Eyes that underwent IOL exchange or explantation were nearly two and a half times more likely to have a final best-corrected visual acuity of \u3c20/60 compared to those that had cataract surgery alone (adjusted RR 2.60 95% CI, 1.13-6.02; P = 0.025)

Electrophysiology and optical coherence tomography in acquired and hereditary retinal disorders

In this thesis, retinal function in general, as well as central retinal function and structure are described in selected forms of acquired and hereditary retinal disorders, in order to improve our understanding of underlying pathogenic mechanisms. This comparison has been made possible during the last years, through the relatively recent development of multifocal ERG (mfERG) and optical coherence tomography (OCT) for the analysis of central retinal function and structure, respectively. The following disorders were investigated: Patients with different mutation in the RDS gene: Phenotypic expression in terms of central retinal structure and function, by OCT and mfERG varied widely, even with the same heterozygous mutation in RDS. Structural alterations were found with OCT in the outer retina choroid complex (ORCC) in a patient with adult onset vitelliform macular degeneration, but function was relatively preserved by mfERG. Patients from a family with autosomal dominant retinitis pigmentosa and a mutation in IMPDH1: Disease expression was homogenous; central retinal function seemed to decrease with age as judged by mfERG, whereas retinal edema seen with OCT, was more pronounced in young patients. Patients with Best macular dystrophy (BMD) and mutation in VMD2: If any functional impairment, the typical appearance in BMD associated with mutations in VMD2, is that of central retinal dysfunction by mfERG and variable structural alterations with OCT. However even in the presence of structural alterations including a lesion in the ORCC, central retinal function may be preserved. Signs of widespread retinopthy were identified in certain genotypes, most noticeably in patients with specific compound heterozygous mutations in VMD2. Patients with recent onset rhegmatogenous retinal detachment (RRD) and solar retinopathy: Central retinal function improves after successful surgery in RRD, or after expectancy in solar retinopahy. Structural alterations in the fovea may be seen, even after successful surgery for RRD. The significance of these in the possible contribution to functional impairment remains to be established. Factors that might influence the outcome include the duration and extent of detachment, and the type of surgery applied

RECOVERY OF RETINAL FUNCTION AFTER RECENT-ONSET RHEGMATOGENOUS RETINAL DETACHMENT IN RELATION TO TYPE OF SURGERY.

PURPOSE:: To investigate retinal function and structure after recent-onset rhegmatogenous retinal detachment in relation to type of surgery. METHODS:: Thirteen consecutive patients with rhegmatogenous retinal detachment of <7 days' duration underwent vitrectomy surgery. Optical coherence tomography, full-field electroretinography (ERG), and multifocal ERG were performed preoperatively and 6 months postoperatively. Results were compared with those from a similar cohort of patients that had been treated previously with scleral buckling surgery. RESULTS:: Anatomic success was achieved in 10 patients, and follow-up was performed in 9. Similar to after scleral buckling surgery, multifocal ERG amplitudes in detached retina and fovea improved significantly at follow-up. Also similar to after scleral buckling surgery, full-field ERG rod function, combined rod-cone, and cone 30-Hz flicker amplitudes improved but significance was not reached. Full-field ERG responses remained reduced compared with normal. However, in contrast to after scleral buckling surgery, full-field ERG 30-Hz flicker implicit times were delayed at follow-up (P = 0.004), indicating a specific inner retinal dysfunction. CONCLUSION:: Previously not described, significant differences were seen in the pattern of regeneration of inner retinal function after vitrectomy compared with after scleral buckling surgery for recent-onset rhegmatogenous retinal detachment

Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia

Geleophysic dysplasia and Weill-Marchesani syndrome are acromelic dysplasias characterized by short stature, brachydactyly, and joint contractures. Recessive Weill-Marchesani syndrome typically includes spherophakia, but the ocular phenotype of recessive geleophysic dysplasia is not well defined. We describe the ocular phenotype of a girl with genetically confirmed recessive geleophysic dysplasia (biallelic ADAMTSL2 mutations). Features included high corneal astigmatism, accommodative esotropia, unilateral Brown syndrome, and no evidence for zonular disease at 12 years of age