Endolymphatic Hydrop Phenotype in Familial Norrie Disease Caused by Large Fragment Deletion of .

Norrie disease (ND; OMIM 310600), a rare X-linked recessive genetic disorder, is characterized by congenital blindness and occasionally, sensorineural hearing loss, and developmental delay. The congenital blindness of ND patients is almost untreatable; thus, hearing is particularly important for them. However, the mechanism of hearing loss of ND patients is unclear, and no good treatment is available except wearing hearing-aid.

A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I.

Stickler syndrome type I (STL1, MIM 108300) is characterized by ocular, auditory, skeletal and orofacial manifestations. Nonsyndromic ocular STL1 (MIM 609508) characterized by predominantly ocular features is a subgroup of STL1, and it is inherited in an autosomal dominant manner. In this study, a novel variant c.

Sulforaphane alleviates retinal ganglion cell death and inflammation by suppressing NLRP3 inflammasome activation in a rat model of retinal ischemia/reperfusion injury.

This study aims to study the potentials of sulforaphane (SFN) against retinal ischemia/reperfusion (I/R) injury. A rat retinal I/R injury method was established. Retinal thickness change and retinal ganglion cell (RGC) death were determined using hematoxylin and eosin (H&E) staining and Fluoro-Gold (FG) labeling.

Incidence of recurrent fungal keratitis after primary keratoplasty and visual outcome and prognosis after intervention for the recurrence.

There are no standardized protocols or guidelines for the treatment of recurrent fungal keratitis after therapeutic keratoplasty. This study aimed to investigate the incidence of recurrent fungal keratitis after the primary keratoplasty and the visual outcome and prognosis after intervention for the recurrence.This was a retrospective study.

Preoperative evaluation and outcome of corneal transplantation for limbal dermoids: a ten-year follow-up study.

Aim: To summarize preoperative evaluation and outcome of corneal transplantation for limbal dermoids for ten years.

Methods: Eighty-five patients diagnosed with limbal dermoids and treated with corneal transplantation were analyzed retrospectively. All patients were further divided into two groups according to absence or presence of neovascularization surrounding the dermoids in the corneal stroma.