A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract

Inherited paediatric cataract is a rare Mendelian disease that results in visual impairment or blindness due to a clouding of the eye’s crystalline lens. Here we report an Australian family with isolated paediatric cataract, which we had previously mapped to Xq24. Linkage at Xq24–25 (LOD = 2.53) was confirmed, and the region refined with a denser marker map. In addition, two autosomal regions with suggestive evidence of linkage were observed. A segregating 127 kb deletion (chrX:g.118373226_118500408del) in the Xq24–25 linkage region was identified from whole-genome sequencing data. This deletion completely removed a commonly deleted long non-coding RNA gene LOC101928336 and truncated the protein coding progesterone receptor membrane component 1 (PGRMC1) gene following exon 1. A literature search revealed a report of two unrelated males with non-syndromic intellectual disability, as well as congenital cataract, who had contiguous gene deletions that accounted for their intellectual disability but also disrupted the PGRMC1 gene. A morpholino-induced pgrmc1 knockdown in a zebrafish model produced significant cataract formation, supporting a role for PGRMC1 in lens development and cataract formation. We hypothesise that the loss of PGRMC1 causes cataract through disrupted PGRMC1-CYP51A1 protein–protein interactions and altered cholesterol biosynthesis. The cause of paediatric cataract in this family is the truncating deletion of PGRMC1, which we report as a novel cataract gene.

RETROSPECTIVE STUDY OF COMPARISON OF COMPLICATIONS OF PAEDIATRIC CATARACT SURGERY WITH CHANGE IN TECHNIQUE OF SURGERY DURING PAST 3 YEARS IN NMCH PATNA

PURPOSE: To study the comparative pattern of postoperative complications following cataract surgery with intraocular lens (IOL) implantation in pediatric eyes with different technique of surgery done during past 3 years. This study helps reducing the complication and improves the visual outcome and economic burden of patient. Objectives: To study the comparative pattern of postoperative complications following cataract surgery with intraocular lens (IOL) implantation in pediatric eyes with different technique of surgery done during past 3 years. This study helps reducing the complication and improves the visual outcome and economical burden of patient.

Bilateral paediatric cataract surgery - outcomes of 298 children from Kinshasa, the Democratic Republic of the Congo

Introduction: The leading cause of childhood blindness globally is paediatric cataract. Bilateral cataract surgery can help to improve visual performance and to diminish the burden of childhood blindness. Objective: To report in a retrospective observational cohort study the long-term outcomes of 298 children who had bilat- eral cataract surgery with IOL implantation from 2001-2016 in Kinshasa. Methods: A standardized surgical treatment of paediatric cataract was practiced on 298 children. Patient’s follow-up, com- plications, and visual outcomes were recorded and analysed. Results: The mean age was 5.7 ± 4.3 years and males were predominant (64.9%). Most of children were living mainly in urban poorest areas (96.3%). Strabismus, nystagmus and microcornea were encountered in 20.1%, 25.1% and 8.7% of children, respectively. Using WHO criteria most of patients were classified as blind preoperatively and 81.9% of them had improved visual outcomes after surgery. Main reasons for reduced vision during follow-up were secondary cataract (5.7%), IOL decentration (1.2%), retinal detachment (1.2%), and secondary glaucoma (1.5%). Conclusion: In spite of the post conflict challenges, elimination of cataract blindness in children remains a priority. Children present at a late age for surgery and long term follow-up is poor. There is need for program strengthening in these areas. Keywords: Paediatric cataract surgery; bilateral cataract; outcomes.

Paediatric cataract in the uveitis setting

Background/aims: Cataract formation is common in uveitis and is visually more threatening in the paediatric cohort due to the risk of amblyopia. In addition, paediatric uveitis can often be difficult to manage. We report our experience with IOL placement in cataract surgery in the setting of paediatric uveitis. Methods: This non-comparative, retrospective interventional case series examined our cases of paediatric cataract occurring in patients with uveitis from 2003 to 2016. Parameters examined included visual acuity (VA), underlying diagnosis, immunosuppression status, intra-operative complications and requirement for further surgery. Results: In total, 10 eyes of seven patients were identified. The mean age at diagnosis of uveitis was 7.7 years (range 5.2–14 years) with onset of cataract at a mean of 29.3 months later (range 0–66 months). Three cases were bilateral and four cases were unilateral. Final visual outcomes were excellent with 80% showing improvement in VA achieving greater than 6/9.5 ( p < 0.05). These patients had significant co-morbidities with concurrent glaucoma, band keratopathy and cystoid macular oedema. Uveitis was quiet for a minimum of 6 months in all cases prior to surgery with augmentation of immunosuppression pre-operatively as well as intra-operative local or intra-venous steroids. Tight post-operative care was necessary as 80% developed further flare-up of uveitis requiring increased immunosuppression and surgical interventions to manage their uveitis. Conclusion: Paediatric uveitis patients who develop cataract can have good visual outcomes with IOL insertion at the time of surgery when there is aggressive control of uveitis in the pre, peri and post-operative period.

“CORRELATION OF GLUCOSE AND CALCIUM IN AQUEOUS HUMOR BETWEEN DIABETIC AND NON-DIABETIC CATARACT PATIENTS''

Cataract is defined as the loss of lens transparency because of opacification of the lens. Based on the causes, cataracts can be classified into age-related cataract, paediatric cataract and cataract due to other causes1. Age-related cataract is the most prevalent type in adults, with the onset between age 45 to 50 years, while in children hereditary and metabolic causes are most common2. Cataract occurs more frequently in low to medium socioeconomic background individuals, and therefore more common in developing countries.3