Heterozygous FGFR3 c.138G>A Mutation Presenting With Achondroplasia and Hemifacial Microsomia.

We present a case of a patient with achondroplasia, hemifacial microsomia and an fibroblast growth factor receptor3 c.138G>A mutation. An association between the 2 conditions has not been previously described, but there is biological plausibility that the etiology of the 2 conditions is linked.

Surgical Correction of Giant Fornix Syndrome.

PURPOSE: To describe a surgical procedure and its outcomes for the management of chronic pseudomembranous kerato-conjunctivitis secondary to giant fornix syndrome (GFS). METHODS: Retrospective case series of 6 patients undergoing fornix shortening surgery for giant fornix syndrome. RESULTS: Surgery produced complete resolution of symptoms in 5/6 (83%) patients and complete relief prior to partial relapse in 1. Mean follow up was 18 months (range: 3-41 months). In the 4 (of 6) patients who had measurements taken, the mean upper eyelid forniceal depth reduced from 21.25 mm (n = 4, SD: 2.87) preoperatively to 16.5 mm (n = 4, SD: 2.65) postoperatively. CONCLUSIONS: Fornix reconstruction may be an effective and well-tolerated treatment for refractory GFS. Resection of excess conjunctiva restores the normal anatomy within the conjunctival cul-de-sac thereby reducing the incidence of protein coagulum formation.

Change in vision after retinal pigment epithelium tear following the use of anti-VEGF therapy for age-related macular degeneration.

PURPOSE: We investigated visual acuity outcomes and their associations in the setting of retinal pigment epithelium tear (RPET) following the use of anti-vascular endothelial growth factor (anti-VEGF) agents. METHODS: This retrospective review included all patients treated for neovascular age-related macular degeneration (AMD) with an anti-VEGF agent who subsequently developed an RPET. All patients who developed an RPET were identified and outcome measures data were recorded and analysed. The main outcome measures were best corrected visual acuity (BCVA) and spectral domain optical coherence tomography characteristics. RESULTS: Among the 14 participants identified, a subfoveal RPET was associated with the loss of one or more lines of vision from baseline (p = 0.03). There was no association between the size of the RPET and BCVA at the time of the RPET or final BCVA. The development of a disciform scar was associated both with a BCVA at the time of the RPET of < 6/24 (p = 0.02) and a final BCVA of < 6/24 (p = 0.02). Ongoing treatment with an anti-VEGF agent following an RPET saw five patients (35.7 %) have an improvement in their BCVA and all patients maintained their BCVA following the RPET with ongoing anti-VEGF treatment. CONCLUSIONS: Visual decline following an RPET is associated with subfoveal location of the RPET (p = 0.03) and later development of a disciform scar. These data also suggest that the ongoing use of an anti-VEGF agent may stabilise vision in some patients following an RPET and for some patients there may be an improvement in visual acuity despite the RPET, depending on its location.

Understanding and checking the assumptions of linear regression: a primer for medical researchers.

Linear regression (LR) is a powerful statistical model when used correctly. Because the model is an approximation of the long-term sequence of any event, it requires assumptions to be made about the data it represents in order to remain appropriate. However, these assumptions are often misunderstood. We present the basic assumptions used in the LR model and offer a simple methodology for checking if they are satisfied prior to its use. In doing so, we aim to increase the effectiveness and appropriateness of LR in clinical research.