Surgical Approach with Pars Plana Vitrectomy for Subretinal Gene Therapy.

Gene therapy is emerging as a treatment for inherited diseases including retinitis pigmentosa. Through surgery, specifically with pars plana vitrectomy, the subretinal space can be accessed to directly administer this treatment. The goal herein is to provide an overview of this approach.

Vitamin A deficiency and the retinal "double carrot" sign with optical coherence tomography.

BACKGROUND: Spectral-domain optical coherence tomography (SD-OCT) and full-field electroretinography (ERG) allow retinal assessment with vitamin A deficiency (VAD). Using SD-OCT, this study aimed to characterize and follow a novel retinal abnormality in patients with VAD and intramuscular supplementation. METHODS: Patients with VAD were retrospectively reviewed, including SD-OCT and electroretinography. RESULTS: Three patients had VAD following bariatric or colon surgery and varying supplementation. All had nyctalopia, extinguished scotopic rod-specific function with ERG, and decreased serum vitamin A. None demonstrated surface abnormalities. All received intramuscular vitamin A with subjective resolution of symptoms. On SD-OCT, four of six eyes exhibited homogenous foveal hyperreflectivity anterior to retinal pigment epithelium-Bruch complex, reminiscent of a "double carrot", which improved following supplementation. ERG findings demonstrated improved scotopic rod-specific function in all cases; however, photopic function remained diminished in two cases. CONCLUSIONS: Structural improvement of the proposed "double carrot" sign occurs soon after vitamin A supplementation. While scotopic function improves rapidly following supplementation, cone function recovers more slowly. Therefore, foveal changes such as the "double carrot" sign suggest that structural recovery of cones precedes functional recovery.

Ophthalmologic Abnormalities in Children with Congenital Sensorineural Hearing Loss.

Objective: To review a single center experience with the diagnosis of visual impairment in patients with sensorineural hearing loss (SNHL) and propose a diagnostic algorithm. Study Design: Retrospective study of patients with SNHL who were diagnosed with ophthalmologic abnormalities in the course of evaluation. Setting: University children's hospital and university-associated eye institute. Subjects and Methods: Children with the diagnosis of sensorineural hearing loss aged 0-18 who received a formal ophthalmology examination between the dates of December 2000-December 2016 were included for analysis. Children were identified using ICD-9 and ICD-10 billing codes. Primary measures included diagnosis of SNHL, ophthalmologic diagnoses, and referral source. Results: Two hundred and sixty-nine patients with SNHL met inclusion criteria. One hundred and thirty-one (48.5%) of these patients had an ophthalmic abnormality. When evaluating referral source, patients referred by a pediatrician following failed vision screen or visual complaint were more likely to have an ophthalmologic finding (61%, n = 147) when compared to referral by an otolaryngologist following diagnosis of SNHL (9.6%, n = 73). Seventeen of the 131 (13%) patients with at least one ophthalmic abnormality had an abnormality that was deemed unlikely to be detected by routine screening. Conclusion: Our study agreed with previously published works that there is a high rate of ophthalmic abnormalities in patients with SNHL. Evaluation of referral source for ophthalmology evaluation suggests that routine referral by otolaryngologists in patients with SNHL may not be an efficient means of identifying patients with treatable ophthalmic disease. Reliance on school and office screenings to detect ophthalmic abnormalities, prior to referral, is likely a more efficient model, even among patients with SNHL.

Assessing photoreceptor structure after macular hole closure.

PURPOSE: To describe photoreceptor structure and recovery after macular hole (MH) closure with pars plana vitrectomy (PPV) using adaptive optics scanning light ophthalmoscopy and spectral domain optical coherence tomography. METHODS: A pilot imaging study of four eyes from four subjects undergoing PPV for MH was conducted. Imaging with spectral domain optical coherence tomography and adaptive optics scanning light ophthalmoscopy was performed at varying time points after PPV. RESULTS: Despite successful MH closure, disruption of the foveal inner segment ellipsoid zone was seen in all patients when imaged at a mean of 117 days after PPV. Disruption of the photoreceptor mosaic was seen using adaptive optics scanning light ophthalmoscopy at locations corresponding to regions of ellipsoid zone disruption on spectral domain optical coherence tomography. Cone density immediately surrounding these disruptions was normal, except for one patient. In 2 patients who were imaged serially up to 516 days after PPV, recovery of cone cells within regions of mosaic disruption could be detected over time. CONCLUSION: Photoreceptor disruption exists even after apparent MH closure. Remodeling of the foveal cone mosaic continues for many months after surgery, perhaps accounting for the delayed postoperative improvements of visual acuity in some patients. Spectral domain optical coherence tomography and adaptive optics scanning light ophthalmoscopy are useful tools for monitoring photoreceptor recovery after surgical closure of MH.