ABSTRACT
Purpose: To understand consequences of reconstituting cone photoreceptor function in congenital binocular blindness resulting from mutations in the centrosomal protein 290 (CEP290) gene. Design: Phase 1b/2 open-label, multicenter, multiple-dose, dose-escalation trial. Participants: A homogeneous subgroup of 5 participants with light perception (LP) vision at the time of enrollment (age range, 15-41 years) selected for detailed analyses. Medical histories of 4 participants were consistent with congenital binocular blindness, whereas 1 participant showed evidence of spatial vision in early life that was later lost. Intervention: Participants received a single intravitreal injection of sepofarsen (160 or 320 µg) into the study eye. Main Outcome Measures: Full-field stimulus testing (FST), visual acuity (VA), and transient pupillary light reflex (TPLR) were measured at baseline and for 3 months after the injection. Results: All 5 participants with LP vision demonstrated severely abnormal FST and TPLR findings. At baseline, FST threshold estimates were 0.81 and 1.0 log cd/m2 for control and study eyes, respectively. At 3 months, study eyes showed a large mean improvement of -1.75 log versus baseline (P < 0.001), whereas untreated control eyes were comparable with baseline. Blue minus red FST values were not different than 0 (P = 0.59), compatible with cone mediation of remnant vision. At baseline, TPLR response amplitude and latency estimates were 0.39 mm and 0.72 seconds, respectively, for control eyes, and 0.28 mm and 0.78 seconds, respectively, for study eyes. At 3 months, study eyes showed a mean improvement of 0.44 mm in amplitude and a mean acceleration of 0.29 seconds in latency versus baseline (P < 0.001), whereas control eyes showed no significant change versus baseline. Specialized tests performed in 1 participant confirmed and extended the standardized results from all 5 participants. Conclusions: By subjective and objective evidence, intravitreal sepofarsen provides improvement of light sensitivity for individuals with LP vision. However, translation of increased light sensitivity to improved spatial vision may occur preferentially in those with a history of visual experience during early neurodevelopment. Interventions for congenital lack of spatial vision in CEP290-associated Leber congenital amaurosis may lead to better results if performed before visual cortex maturity.
ABSTRACT
PURPOSE: To report two cases of severe retinal cicatricial contraction after vitrectomy for open-globe injury in patients with skin keloid. OBSERVATIONS: One was a 33-year-old male patient who developed severe retinal cicatricial contraction 6.5 months post-operatively, and his skin wound was observed with keloid simultaneously. The second case was a 36-year-old male patient who developed recurrent retinal detachment 1 week after the two operations, and keloid was also found on his skin. CONCLUSIONS AND IMPORTANCE: Retinal detachment is a vision-threatening complication of open-globe injury. Besides most of the already known factors, skin keloid should be concerned.
ABSTRACT
Penetrating eye injuries caused by bird pecking are uncommon with less than 40 cases reported in the literature. In this article, we present a case of penetrating ocular injury caused by a bird along with pertinent literature review. An otherwise healthy 56-year old man presented to the emergency department complaining of right eye severe pain and decreased vision following trauma caused by a bittern bird. The patient was diagnosed with penetrating ocular injury & he underwent primary repair. On follow up, he was found to have traumatic cataract, which was operated, however, the surgery was complicated with IOL dislocation into the vitreous cavity. The patient was referred to retina service where he underwent pars plana vitrectomy with IOL repositioning in the sulcus. After two months, the patient's uncorrected visual acuity improved from counting fingers at 2 feet to 20/30-2. This case serves as a reminder that bird pecking is one of the causes of penetrating eye trauma.
ABSTRACT
PURPOSE: To report the clinical features organisms and treatment outcomes in patients with endophthalmitis after penetrating keratoplasty (PK). METHODS: Retrospective noncomparative case series. RESULTS: Eleven eyes of 11 patients with culture positive endophthalmitis after PK were included. The time to diagnosis of endophthalmitis from last PK was less than 1 week in 3/11 (27%), between 1 and 4 weeks in 3/11 (27%), and greater than one month in 5/11 (46%) (range 2-924 days). The distribution of isolates included gram positive (GP) 9/11 (82%), gram negative (GN) 1/11 (9%), and fungal 1/11 (9%) species, respectively. Of GP bacteria tested, 9/9 (100%) were sensitive to Vancomycin. Of fungal isolates tested, none (0/1) were sensitive to Amphoteracin, Fluconazole, and/or Voriconazole. Among patients with rim culture data available, 1/7 (14%) donor rims were culture positive for Candida glabrata and 6/7 (86%) were culture negative. Patients were treated with primary tap and inject in 10/11 (91%) and primary vitrectomy in 1/11 (9%). VA of ≥5/200 was present in 2/11 (18%) at time of endophthalmitis diagnosis, and was recorded in 6/11 (55%) at last follow-up. CONCLUSIONS AND IMPORTANCE: Patients with endophthalmitis after PK presented at variable time points after surgery. Gram positive organisms were the most common isolate. VA outcomes after treatment were generally poor.