A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome.

The purpose of the present study was to analyze the clinical phenotypes of a girl with oculo-facio-cardio-dental (OFCD) syndrome and to identify the potential pathogenic mutation responsible for her disease. The patient underwent detailed clinical examinations and phenotype data were collected over a follow-up period of 9 years. Mutation analysis of the candidate gene BCOR was performed with polymerase chain reaction and Sanger sequencing. BCOR of 60 unrelated normal individuals were also sequenced as a control group. Clinical phenotyping and follow-up study results indicate that this patient had multiple system anomalies including ocular, facial, cardiac, dental, and limb malformations. In addition, papilloma of the choroid plexus was identified, which represents the first report of this phenotype in an OFCD patient. A novel deletion mutation, c.1296delT in exon 4 of the BCOR gene, was identified in this patient and was not found in her parents or in 60 normal unrelated individuals. This deletion was a frameshift mutation and is proposed to encode a premature stop codon, thus producing a truncated protein. Our patient fitted the diagnostic criteria for OFCD syndrome and we report the first papilloma of the choroid plexus in an OFCD patient, expanding the recognized phenotypic spectrum of this disease. Meanwhile, we identified a novel deletion mutation that may cause OFCD syndrome.

Findings of Optical Coherence Tomography Angiography in Best Vitelliform Macular Dystrophy.

PURPOSE: To evaluate the vascular anatomy of eyes with Best vitelliform macular dystrophy (BVMD) using optical coherence tomography angiography (OCTA). METHODS: This retrospective case-control study enrolled 11 consecutive BVMD patients and 13 age-matched healthy participants. Both eyes of each participant were imaged using a macular OCTA scan (3 × 3 mm) by 70-kHz 840-nm spectral-domain OCT. The flow signal was calculated using the split-spectrum amplitude-decorrelation angiography (SSADA) algorithm. RESULTS: Qualitative analysis showed uneven hypo- and hyperintense signal changes at the choriocapillary level in OCTA images of BVMD patients. Quantitative analysis showed significant reductions in the flow density of the superficial vascular layer (whole: 49.2% vs. 53.9%, p < 0.001) and the choriocapillary flow area (5.1 vs. 5.5 mm2, p = 0.02) in BVMD patients compared to controls. The choriocapillary flow area in the postvitelliform group was reduced compared to that of the vitelliform group. There was a statistically significant association between choriocapillary flow area and superficial vascular flow density (p = 0.045), choriocapillary flow area and foveal avascular zone area (p = 0.03). CONCLUSIONS: Vascular changes in BVMD were apparent in the choriocapillary layer. The changes became more striking in late stages of the disease. OCTA provides useful quantitative measurements for staging and monitoring the progression of BVMD.

High-Dose Decanted Triamcinolone for Treatment-Resistant Persistent Macular Edema.

BACKGROUND AND OBJECTIVE: To report the outcomes of decanted high-dose intravitreal triamcinolone acetonide (HD-IVTA) injection for treatment-resistant persistent macular edema (ME). PATIENTS AND METHODS: Seventy-seven eyes of 70 consecutive patients who failed prior treatments for persistent ME received as-needed HD-IVTA injections. Best-corrected visual acuity and central macular thickness (CMT) were assessed at all follow-up visits. RESULTS: Thirty-three eyes (42.8%) had ME following pars plana vitrectomy. The mean ETDRS letter score from baseline improved by 6.3 letters ± 11.5 letters at 3 months (P < .001) and 4.8 letters ± 11.4 letters at 12 months (P = .016). The mean change in CMT from baseline was significant at all follow-up visits (P < .001). During 1-year follow-up, 49 eyes (63.6%) required only one HD-IVTA injection. The mean time for reinjection was 6 months ± 2.4 months (range: 1.6 months to 10.5 months) after the first injection of HD-IVTA. The incidence of elevated intraocular pressure was 40.2% (31 of 77 eyes). Of these, one eye required glaucoma surgery. Among 14 phakic eyes, 21.4% (three eyes) developed cataract formation requiring surgery. CONCLUSION: A single HD-IVTA injection can provide a long duration of effect on ME of up to 6 months. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:717-726.].

Congenital aniridia with cataract: case series.

BACKGROUND: This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation. METHODS: In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A continuous circular capsulorhexis with <6 mm diameter was employed. A capsular tension ring and HOYA yellow foldable posterior chamber intraocular lens was implanted. All patients wore color contact lenses postoperatively. Paired t test was used to compare visual acuity, intraocular pressure, and corneal endothelial changes before and after surgery. RESULTS: A single surgeon performed all surgeries. The best-corrected visual acuity improved from value 1.03 ± 0.27LogMAR preoperatively to value 0.78 ± 0.26LogMAR postoperatively (p = 0.000). The photophobic symptoms improved significantly after surgery. The mean corneal endothelial cell density before and after surgery was 3280 ± 473 cells/mm2 and 2669 ± 850 cells/mm2, respectively (p = 0.006). None of the patients developed corneal endothelial decompensation or secondary glaucoma after surgery. CONCLUSIONS: Treatment of congenital aniridia and coexistent cataract by phacoemulsification, posterior chamber foldable lens implantation, capsular tension ring placement was safe and effective. Use of colored contact lenses in the postoperative period can reduce photophobic symptoms in this group of patients. TRIAL REGISTRATION: ChiCTR-OOC-17011638 (retrospectively registered at 12,June,2017).

CHARACTERISTICS OF EPIRETINAL MEMBRANE REMNANT EDGE BY OPTICAL COHERENCE TOMOGRAPHY AFTER PARS PLANA VITRECTOMY.

PURPOSE: To evaluate the incidence, characteristics, and the progression of epiretinal membrane (ERM) remnant edge seen by optical coherence tomography after ERM peeling. METHODS: A retrospective chart review was conducted for 86 eyes of 85 consecutive patients who were diagnosed with ERM and underwent pars plana vitrectomy for epiretinal membrane peeling between 2013 and 2014. Data collected and analyzed included age, gender, preoperative and postoperative visual acuity, use of indocyanine green dye to stain internal limiting membrane, tamponade used after vitrectomy, ERM edge boundaries, presence of cystoid macular edema, and central foveal thickness. RESULTS: An ERM remnant edge was detected in 33/86 study eyes (38.4%) at the first postoperative optical coherence tomography scan. Compared with those without an ERM remnant, patients with an ERM remnant after surgery were significantly older at baseline and had a higher incidence of ERM recurrence at their last visit. They were not significantly different in terms of gender, preoperative and postoperative visual acuity, reduction of central foveal thickness from baseline, proportion of eyes with preoperative ERM elevation on optical coherence tomography, presence of macular edema before surgery, intraoperative use of indocyanine green staining for ILM peeling, or tamponade used. Based on the edge morphology, we classified the ERM remnant into three types: Type 1 was flat and blended with the retina (14/33 eyes, 42.4%), Type 2 was flat but stepped (17/33 eyes, 51.5%), and Type 3 was elevated (2/33 eyes, 6.0%). A significantly higher risk of ERM recurrence was seen in Type 2 and Type 3 ERM remnants (75% and 100%, respectively) than Type 1 ERM remnants (10%). CONCLUSION: An ERM remnant edge was detected by optical coherence tomography after ERM peeling in 38.4% of eyes. The presence of a postoperative ERM edge was associated with a higher risk of ERM recurrence, particularly in Type 2 and Type 3 ERM remnants.

The analysis of corneal asphericity (Q value) and its related factors of 1,683 Chinese eyes older than 30 years.

PURPOSE: To determine corneal Q value and its related factors in Chinese subjects older than 30 years. DESIGN: Cross sectional study. METHODS: 1,683 participants (1,683 eyes) from the Handan Eye Study were involved, including 955 female and 728 male with average age of 53.64 years old (range from 30 to 107 years). The corneal Q values of anterior and posterior surfaces were measured at 3.0, 5.0 and 7.0mm aperture diameters using Bausch & Lomb Orbscan IIz (software version 3.12). Age, gender and refractive power were recorded. RESULTS: The average Q values of the anterior surface at 3.0, 5.0 and 7.0mm aperture diameters were -0.28±0.18, -0.28±0.18, and -0.29±0.18, respectively. The average Q value of the anterior surface at the 5.0mm aperture diameter was negatively correlated with age (B = -0.003, p<0.01) and the refractive power (B = -0.013, p = 0.016). The average Q values of the posterior surface at 3.0, 5.0, and 7.0mm were -0.26±0.216, -0.26±0.214, and -0.26±0.215, respectively. The average Q value of the posterior surface at the 5.0mm aperture diameter was positively correlated with age (B = 0.002, p = 0.036) and the refractive power (B = 0.016, p = 0.043). CONCLUSION: The corneal Q value of the elderly Chinese subjects is different from that of previously reported European and American subjects, and the Q value appears to be correlated with age and refractive power.

Impaled Orbital TASER Probe Injury Requiring Primary Enucleation.

The Conducted Electrical Weapon is a weapon often used by law enforcement agencies as a method of less lethal means to subdue a suspect. Injuries to the eye with these devices are usually due to the projectile force of the metal probes that are released when these devices are engaged. The authors report what may be the first case of an impaled orbital TASER probe that required primary enucleation for globe perforation.

High-frequency aflibercept injections in persistent neovascular age-related macular degeneration.

PURPOSE: To report the 1-year outcomes of every-4-weeks (Q4W) as-needed aflibercept treatment in resistant neovascular age-related macular degeneration (nAMD) patients who had been treated and failed prior bevacizumab or ranibizumab injections, and who also responded poorly to every-8-weeks (Q8W) aflibercept treatment. METHODS: Forty-three eyes of 39 patients with persistent nAMD despite monthly bevacizumab and/or ranibizumab injections and who were switched to Q8W 2-mg aflibercept injections, but showed persistence of fluid were included. Patients were treated with as-needed Q4W aflibercept injections with monthly monitoring. Maximum retinal thickness (MRT), central macular thickness (CMT), maximum pigment epithelial detachment height (PED) and best-corrected visual acuity (BCVA) were assessed and compared to baseline when high-frequency aflibercept was initiated. RESULTS: A mean of 8 (interquartile range, 4-11) Q4W injections were given during the follow-up. MRT and CMT significantly decreased at all follow-up visits (p < 0.05); however, there was no significant change in maximum PED height (p > 0.05) at any visit. Mean BCVA was 0.38 ± 0.28 (logMAR) (≈20/63, Snellen) at baseline, and 0.4 ± 0.34 (logMAR) (≈20/76, Snellen) at 1 year (p = 0.76). Seventy-two percent of eyes maintained a final BCVA of 20/63 or better. Twelve eyes (28 %) had some subretinal scar tissue formation and 5 eyes (11.6 %) had evidence of atrophy at 1 year. CONCLUSION: A stepwise algorithm with Q4W as-needed aflibercept treatment led to anatomic improvement in previously treated eyes which failed other therapies, including aflibercept every 8 weeks. Lack of visual improvement may be due to a ceiling effect as our eyes generally had good visual acuity.

Long-Term Results of Pro Re Nata Regimen of Aflibercept Treatment in Persistent Neovascular Age-Related Macular Degeneration.

PURPOSE: To determine the 24-month results of patients who had pro re nata (PRN) aflibercept treatment owing to recurrent or resistant neovascular macular degeneration. DESIGN: Retrospective, interventional, consecutive case series. METHODS: Eighty-one eyes of 78 patients with resistant or multiple recurrences of intraretinal or subretinal fluid while receiving monthly bevacizumab or ranibizumab injections and were switched to strict, as-needed aflibercept treatment with every-8-weeks spectral-domain optical coherence tomography (SDOCT)-guided monitoring were included. If there was a persistence of fluid despite this treatment, more frequent aflibercept injections were considered. Anatomic outcomes including maximum retinal thickness, central macular thickness, maximum pigment epithelial detachment height, maximum fluid height, and visual acuity (VA) were assessed at given follow-ups. RESULTS: All anatomic endpoints significantly improved following 3 consecutive aflibercept injections, which were maintained through 24 months (P < .05 for all endpoints at all visits). Thirty-seven eyes (45.6%) required more frequent injections with monthly SDOCT-guided monitoring at a median of 37 weeks (interquartile range, 30-62 weeks) to adequately treat the retinal fluid. Seventy-one of 81 eyes (87.7%) became completely dry on at least 1 follow-up visit; however, there was no significant improvement in VA during the study period. CONCLUSION: Aflibercept injection with an as-needed regimen was effective in many eyes previously treated with monthly bevacizumab or ranibizumab injections that had persistent or recurrent fluid. Despite significant improvement in anatomic outcomes, vision remained stable throughout the 2-year follow-up, likely because this cohort of patients had advanced choroidal neovascular membrane upon enrollment (recurrent or resistant).

Central retinal artery occlusion in a patient with tetralogy of Fallot.

A 17-year-old Caribbean male presented with painless acute vision loss in the left eye. The patient was found to have a central retinal artery occlusion and an underlying uncorrected tetralogy of Fallot. To our knowledge, this is the first such reported case. One week after presentation visual acuity in the left eye spontaneously improved to 20/200.

Pachydermoperiostosis: a rare cause of marked blepharoptosis and floppy eyelid syndrome.

A 34-year-old African-American man was referred for eyelid swelling and ocular discomfort. He was found to have floppy hypertrophic eyelids and marked bilateral mechanical ptosis that was present since childhood. Systemic examination was significant for furrows on his forehead and scalp, coarse facial features, and enlarged hands and feet with clubbing of the fingers and toes. Radiographic imaging of the long bones demonstrated periostosis, and MRI of the head revealed a pituitary macroadenoma. Pituitary and thyroid hormone levels were normal. The patient was diagnosed with pachydermoperiostosis and a non-secreting pituitary macroadenoma. Bilateral upper lid tightening via wedge resection was followed by bilateral external levator advancement ptosis repair in a staged manner. The patient achieved symptom relief and improved lid position postoperatively.

Bilateral marked dacryops following trauma.

A 35 year-old man presented for evaluation of bilateral lacrimal fossa masses. He sustained left and right periocular trauma, eight months and five years prior to presentation, respectively. The patient had marked dacryops, left greater than right, which was confirmed by orbital CT. Surgical excision of the left dacryops was performed, and excision of the right sided lesion was deferred by the patient.

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.

PURPOSE: To investigate the human disease due to CRB1 mutations and compare results with the Crb1-mutant rd8 mouse. METHODS: Twenty-two patients with CRB1 mutations were studied. Function was assessed with perimetry and electroretinography (ERG) and retinal structure with optical coherence tomography (OCT). Cortical structure and function were quantified with magnetic resonance imaging (MRI). Rd8 mice underwent ERG, OCT, and retinal histopathology. RESULTS: Visual acuities ranged from 20/25 to light perception. Rod ERGs were not detectable; small cone signals were recordable. By perimetry, small central visual islands were separated by midperipheral scotomas from far temporal peripheral islands. The central islands were cone mediated, whereas the peripheral islands retained some rod function. With OCT, there were small foveal islands of thinned outer nuclear layer (ONL) surrounded by thick delaminated retina with intraretinal hyperreflective lesions. MRI showed structurally normal optic nerves and only subtle changes to occipital lobe white and gray matter. Functional MRI indicated that whole-brain responses from patients were of reduced amplitude and spatial extent compared with those of normal controls. Rd8 mice had essentially normal ERGs; OCT and histopathology showed patchy retinal disorganization with pseudorosettes more pronounced in ventral than in dorsal retina. Photoreceptor degeneration was associated with dysplastic regions. CONCLUSIONS: CRB1 mutations lead to early-onset severe loss of vision with thickened, disorganized, nonseeing retina. Impaired peripheral vision can persist in late disease stages. Rd8 mice also have a disorganized retina, but there is sufficient photoreceptor integrity to produce largely normal retinal function. Differences between human and mouse diseases will complicate proof-of-concept studies intended to advance treatment initiatives.

Late capsular bag contraction and intraocular lens subluxation in retinitis pigmentosa: a case report.

INTRODUCTION: Retinitis pigmentosa is clinically characterized by loss of predominantly rod photoreceptor function as well as loss of peripheral vision. The classic clinical triad is considered to be the presence of bone spicule pigmentation in the peripheral retina, arteriolar attenuation, and waxy disc pallor. Cataracts, most commonly of the posterior subcapsular type, are often found in all forms of retinitis pigmentosa. Ectopia lentis and lens dislocation are known risk factors for those with retinitis pigmentosa, presumably secondary to zonular fiber weakness and vitreous degeneration. The post-operative complication of lens dislocation following cataract extraction in patients with retinitis pigmentosa has also been documented. CASE PRESENTATION: We report a case of severe capsular bag contraction with intraocular lens subluxation following cataract extraction in a 58-year-old Hispanic woman with retinitis pigmentosa. CONCLUSION: Patients with retinitis pigmentosa undergoing cataract surgery should be notified of this potentially late complication of surgery.