Search

Leber Congenital Amaurosis 2 is an early onset retinal dystrophy that occurs due to mutation in RPE65 gene. Here, we report the generation of two patient specific induced pluripotent stem cell lines harboring nonsense mutations in exon 7 (c.646A > T) and exon 9 (c.992G > A) of RPE65 gene, respectively, which leads to premature translational termination and formation of defective protein. These lines were generated by the reprogramming of human dermal fibroblast cells using integration-free, episomal constructs expressing stemness genes. The stable lines maintained a normal karyotype, expressed the key stemness factors, underwent trilineage differentiation, and maintained their genetic identity and genomic integrity.

Purpose: To study cases of hardware-associated secondary acquired lacrimal duct obstructions (SALDO) and the role of computed tomography dacryocystography (CT-DCG) scans in its diagnosis and management. Observations: Retrospective, interventional case review of four patients diagnosed as Hardware-associated SALDO, with primary maxillofacial repair performed elsewhere, were analyzed. The mean age was 36.5 years (range: 22–74 years), three of them being males. Left and right lacrimal systems were equally involved. Epiphora, swelling and discharge were the main presenting features. Three lacrimal sacs and nasolacrimal ducts on CT-DCG showed the screws of the orbital fracture plate directly piercing their walls, whereas a single case showed the sac displaced and pierced by the medial side of the orbital floor implant. Two cases underwent dacryocystorhinostomy with intubation, and the remaining two had to undergo dacryocystectomy due to extensive damage. Post-operatively all four cases were doing well at a mean follow-up of 2 months. Conclusions: The present series highlights the role of CT-DCG in delineating spatial relationship of lacrimal drainage system with the surrounding structures, facilitating planning as well as choice of surgery, and anticipating the intraoperative challenges. It also signifies importance of interdisciplinary coordination between oculoplastic and maxillofacial surgeons to avoid iatrogenic trauma to the lacrimal drainage system.

Purpose: To study the emerging trend of development of secondary acquired nasolacrimal duct obstruction (SALDO) in the cases treated for rhino-orbito-cerebral mucormycosis (ROCM). Observations: Prospective, interventional case series of five patients who developed SALDO post-surgical and medical management of ROCM. The mean age was 45.4 years (range: 40–62 years), all five being males. Right lacrimal drainage pathways was involved slightly more than the left (right:left = 3:2). Epiphora and discharge were the main presenting features. All five patients were treated with extensive debridement of the nose, sinuses, orbit and cerebral involvement as needed followed by medical management for ROCM. CT- Dacryocystography for all 5 patients showed obstruction at the lower end of the nasolacrimal duct. The patients underwent external dacryocystorhinostomy with mitomycin-C with or without intubation with good anatomical and functional outcomes at 6 months follow-up. Conclusions and importance: The present series highlights the possible etiology of development of SALDO in cases treated for ROCM, its management and discusses the role of Computed Tomography Dacryocystography (CT-DCG) in understanding the pathophysiology of the development of SALDO along with delineating the spatial relationship of the lacrimal drainage system with the surrounding structures.