Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature.

BACKGROUND: Knobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment. This report presents two cases with different COL18A1 gene mutations, complicated by retinal detachment. CASE PRESENTATION: Both cases exhibited high myopia and various degrees of occipital skull defect. The first case, a female, had bilateral congenital retinal detachment, posterior embryotoxon, and strabismus. The second case, a male, had unilateral congenital retinal detachment and neuromotor developmental delay. The first case, diagnosed in the early months of life, underwent successful retinal reattachment surgery. However, surgery was not performed on the second case, who presented with late-stage unilateral retinal detachment and pre-phthisis. CONCLUSIONS: The report describes two patients with Knobloch syndrome, one of whom responded favorably to surgery for retinal detachment in both eyes. Successful anatomical results were achieved with early surgical interventions. It is essential to recognize the phenotypic and genetic heterogeneity within KNO.

Focal laser photocoagulation in non-center involved diabetic macular edema.

This study was performed to evaluate the functional and anatomic outcomes of focal macular laser photocoagulation in eyes with non-center involved macular edema (non-CI ME). Forty-nine eyes of 43 patients with non-CI ME were included. Focal macular laser photocoagulation was conducted on twenty-nine eyes of 25 patients, while 20 eyes of 18 patients with non-CI ME were followed without treatment and served as the control group. Data relating to best corrected visual acuity (BCVA; Early Treatment Diabetic Retinopathy Study) and central subfield thickness (CST), inner zone thickness (IZT), outer zone thickness (OZT), and total macular volume (TMV) as determined by optical coherence tomography (OCT) were collected and compared between the groups. At 12 months, VA decreased by a mean of 0.4 letters in the treatment group and 3.3 letters in the control group (p=0.03). Gain in VA ≥5 letters was noted in 6 (21%) of the eyes in the treatment group versus 1 (5%) eye in the control group (p=0.12). At 12 months, average IZT decreased by 22.6 microns in the treatment group and increased by 10.9 microns in the control group (p<0.001). The treatment group revealed significant reduction in CST, average OZT, and TMV as compared to the control group at 12 months (all p<0.05).Generally, focal laser photocoagulation may have more favourable visual outcomes in this specific group of diabetic patients than does observation. In addition, focal laser treatment provided better outcomes with improvement in OCT parameters as compared to the control group.