Anagha Medsinge

Pediatric cataract: challenges and future directions

Cataract is a significant cause of visual disability in the pediatric population worldwide and can significantly impact the neurobiological development of a child. Early diagnosis and prompt surgical intervention is critical to prevent irreversible amblyopia. Thorough ocular evaluation, including the onset, duration, and morphology of a cataract, is essential to determine the timing for surgical intervention. Detailed assessment of the general health of the child, preferably in conjunction with a pediatrician, is helpful to rule out any associated systemic condition. Although pediatric cataracts have a diverse etiology, with the majority being idiopathic, genetic counseling and molecular testing should be undertaken with the help of a genetic counselor and/or geneticist in cases of hereditary cataracts. Advancement in surgical techniques and methods of optical rehabilitation has substantially improved the functional and anatomic outcomes of pediatric cataract surgeries in recent years. However, the phenomenon of refractive growth and the process of emmetropization have continued to puzzle pediatric ophthalmologists and highlight the need for future prospective studies. Posterior capsule opacification and secondary glaucoma are still the major postoperative complications necessitating long-term surveillance in children undergoing cataract surgery early in life. Successful management of pediatric cataracts depends on individualized care and experienced teamwork. We reviewed the etiology, preoperative evaluation including biometry, choice of intraocular lens, surgical techniques, and recent developments in the field of childhood cataract.

Paediatric keratoplasty: choices and conundrums.

Descemets stripping endothelial keratoplasty (DSEK) has revolutionised corneal transplantation in cases with pure endothelial dysfunction. Recently, DSEK has become a popular procedure among paediatric corneal surgeons globally for pure endothelial dysfunction, because it is said to provide early visual rehabilitation and an improved safety profile compared with traditional penetrating keratoplasty (PKP).1 ,2 Does it though? In this issue, Ashar et al 3 attempt to answer this question by describing a paired-eye comparison of DSEK and PKP in children with congenital hereditary endothelial dystrophy (CHED). The authors have compared the outcomes of two techniques in the fellow eyes of the same patient at 1-year follow-up in terms of graft clarity, visual outcome and complications. There was no significant difference in the spherical component of the refraction with significantly lower astigmatism in DSEK. Although all the grafts were clear at 1 year, the authors observed that the graft clarity after DSEK never reached that obtained after PKP. Why should that be? A review of all the series published thus far on endothelial keratoplasty in children is summarised in table 1. There are a total of 54 eyes of 45 patients who underwent …

Coenzyme Q10 in the Treatment of Corneal Edema in Kearns-Sayre: Is There an Application in Fuchs Endothelial Corneal Dystrophy?

Purpose: Corneal involvement in mitochondrial disease is seldom described. Kearns-Sayre syndrome (KSS) is a mitochondrial disorder characterized by retinitis pigmentosa, external ophthalmoplegia, and heart block. We report 2 patients with KSS with corneal lesions involving the endothelium, which improved with Coenzyme Q10 (CoQ10). Based on recent research regarding the role of dysfunctional oxidative metabolism in Fuchs Endothelial Corneal Dystrophy (FECD), we propose that mitochondrial diseases and FECD share a final pathway. Methods: A chart review was performed and a review of the literature was completed with a PubMed search using the terms “Kearns-Sayre Syndrome”, “mitochondria”, “endothelium”, “Fuchs endothelial corneal dystrophy”, and “cornea”. Results: There are 19 reports of corneal involvement in clinical phenotypes of mitochondrial disease. Nine of these 19 cases had findings consistent with KSS. Our patients with KSS had microcystic changes throughout the cornea and excrescences on the endothelial surface seen with ultrasound biomicroscopy, similar to the clinical findings in FECD. CoQ10 improved corneal disease in both children. CoQ10 deficiency has been reported in a variety of mitochondrial diseases, and efficacy of supplementation has been demonstrated. It may be beneficial in these patients because of its antioxidant properties and role in oxidative phosphorylation. Conclusions: The common deletion found in patients with KSS has recently been implicated in FECD, which has recently been shown to be a disease related to dysfunctional oxidative metabolism. Future research should explore the use of antioxidants, such as CoQ10 in patients with FECD.

Improved visual function with dietary intervention in a child with lipemia retinalis

We present a 4.8-year-old female with grade 3 lipemia retinalis due to lipoprotein lipase deficiency, an abnormal electroretinogram, and bilateral decreased visual acuity. Strict dietary intervention resulted in reversal of lipemia retinalis, normalization of her electroretinogram, and improved visual acuity in both eyes.

Cataract surgery in children with congenital keratolenticular adhesion (Peters anomaly type 2)

PURPOSE To report the visual and surgical outcomes after cataract surgery in children with keratolenticular adhesion (Peters anomaly type 2). METHODS The medical records of consecutive patients with keratolenticular adhesion (KLA) with partial (iris defects)/complete aniridia were retrospectively reviewed. Cataract surgery (in-the-bag irrigation and aspiration) with or without intraocular lens implantation and with or without broad iridectomy was performed. The main outcome measures were postoperative visual acuity, complications, and progression of corneal opacity. RESULTS The study included 4 eyes of 3 patients ranging in age from 3 months to 7 years. The mean age at cataract surgery was 37 months; the median, 24 months (range, 3-84 months). The mean follow-up was 3.3 years and median was 2 years (range, 2-6 years). Preoperative visual acuity ranged from fixing and following objects to 20/200. Only 1 patient had PAX6 mutation-confirmed aniridia. The other 2 patients had partial iris defects. All eyes improved in visual acuity ranging from counting fingers at 3 feet to 20/60. There was no progression of corneal opacity. There were no postoperative complications. CONCLUSIONS Children with KLA with complete or partial iris defects with localized corneal opacity and cataract can achieve satisfactory visual outcomes by undergoing meticulous lensectomy with or without iridectomy.

Defining success in infant penetrating keratoplasty for developmental corneal opacities.

Background and Purpose Neonatal corneal opacities (NCO) are one of the common causes of visual impairment in infants. We present the two infants with penetrating keratoplasty (PKP) for unilateral NCO with different visual and graft outcomes, and illustrate the importance of timing of surgery, importance of visual rehabilitation, and the lack of necessity of a clear graft to achieve reasonable visual function in infants with NCO. Patients and Methods Two infants with unilateral NCO (Peters anomaly) underwent PKP at age of 5.5 weeks (Case One) and 16 weeks (Case Two). Postoperative optical correction, amblyopia therapy, visual and graft outcomes were recorded. Results At the last follow-up (9.5 years in both the cases), Case One achieved a best-corrected visual acuity (BCVA) of 20/80 with −22 D of contact lens. The graft had a small clear zone centrally but otherwise was opacified to some extent. Case Two achieved a BCVA of 20/125 at 30 cms eccentrically with a clear graft. Case Two was uncooperative for amblyopia therapy and optical treatment. Conclusion For a successful visual outcome in NCO, early PKP, aggressive amblyopia therapy, optical correction, and commitment from the parents for long-term follow-up and demanding treatment are required.

Bilateral endoscopic optic nerve decompression in an infant with osteopetrosis

Osteopetrosis is a rare disorder of bone remodeling characterized by defective resorption leading to excessive skeletal mass including optic canal. Compression of the optic nerve from the narrowed optic canal is the most common cause of vision loss in children with osteopetrosis. We report the case of a 6-month old girl with osteopetrosis who underwent bilateral optic canal decompression via endoscopic transcaruncular approach for progressive deterioration of visual function secondary to compressive optic neuropathy from narrowed optic canals. The patient showed improvement in visual function postoperatively.

Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation

Summary: Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that shows greater severity in females and is largely attributed to mutations in EFNB1. A 7-year-old boy presented with hypertelorism, broad nasal root, midfacial hypoplasia, mandibular prognathia, ptosis, and scaphocephaly was clinically diagnosed with CFNS. Three-dimensional computed tomographic scans confirmed the isolated sagittal synostosis. His mother also showed clinical features of CFNS, but less severe. Genetic tests uncovered a novel C to T mutation at nucleotide 466 (c.466C>T) in exon 1 of EFNB1 for both. To the best of our knowledge, this is the only reported incident of CFNS in a male child exhibiting isolated sagittal synostosis.

Technique for identifying Schlemm's canal in paediatric glaucoma surgery

Traditionally, trabeculotomy is the preferred initial surgical intervention for congenital glaucoma when corneal haze precludes the performance of a goniotomy.1 It was first described by Burian in 1960.2 In the classical trabeculotomy ab externo, an external approach is used to cannulate the Schlemms canal (SC) and connect it to the anterior chamber through incision of the trabecular meshwork using the trabeculotome. Recent modifications of trabeculotomy include circumferential suture techniques with or without the use of flexible illuminated microcatheter and viscotrabeculotomy.3–5 The most critical step in all these procedures is to identify the SC to prevent the complications such as collapse of the anterior chamber, iridodialysis and misdirection into the suprachoroidal space. The reported incidence of non-localisation of SC during trabeculotomy is 4–15%. Non-localisation may be due to congenital absence or dysgenesis of SC.6 ,7 It is challenging in children due to less pigmented trabecular meshwork, malposition or absence of the canal in children with anterior segment developmental anomalies …

Managing blepharokeratoconjunctivitis in children: a review

Blepharokeratoconjunctivitis (BKC) in children has been under-recognized for a variety of reasons until now, as traditionally it has been considered an ‘adults’disease’ till date. It is however, an important cause of preventable and treatable visual morbidity in children. The exact etiology and pathogenesis of this condition is still unknown. We have performed a literature review using PubMed and the MeSH terms like blepharitis, blepharokeratoconjunctivitis, children, ocular rosacea and meibomian gland dysfunction. We have discussed all the major series on childhood BKC reported in the literature. The diagnosis and management of BKC in children is challenging. Detailed evaluation and a stepwise management protocol is essential to manage the disease at an earlier stage and to prevent the development of severe visual sequeale. Examination of affected children includes the assessment of visual acuity, refraction, thorough evaluation of the eyelids, the anterior tear meniscus, conjunctiva and cornea. Management comprises of conservative measures such as lid hygiene along with antibiotics and steroids depending upon the severity of the disease. Surgical treatment may be required in severe cases with corneal involvement. This review aims to discuss the clinical presentation of BKC in children, available treatment modalities and a preferred stepwise management algorithm.