Journal of Pediatric Genetics - Volume 3, issue 4

Authors: Patel, Mansi | Ramasubramanian, Aparna

Article Type: Research Article

DOI: 10.3233/PGE-14101

Citation: Journal of Pediatric Genetics, vol. 3, no. 4, pp. 185-193, 2014

Authors: Fecarotta, Christopher M. | Huang, Wendy W.

Article Type: Research Article

Abstract: Our objective is to evaluate the literature regarding selected genetic diseases of the cornea, including megalocornea, keratoglobus, keratoconus, cystinosis, the mucopolysaccharidoses, sclerocornea, Peters' anomaly, familial dysautonomia, and various corneal dystrophies. The transparency of the cornea is a consequence of uniformity in both size and spacing of the collagen lamellae. The cornea's clarity depends on a delicate biochemical and structural balance; consequently, genetic disorders that disrupt either its metabolic or anatomic function can cause opacity and vision loss. Many childhood corneal diseases have a genetic etiology and are associated with known syndromes. Each disorder has unique associated set of possible complications. …Prognosis often depends on the extent of opacity and disorganization of the anterior segment. Corneal transplantation has been performed for these disorders with variable success. Show more

Keywords: Megalocornea, keratoglobus, keratoconus, cystinosis, mucopolysaccharidosis, sclerocornea, Peters' anomaly, familial dysautonomia, corneal dystrophy

DOI: 10.3233/PGE-14102

Citation: Journal of Pediatric Genetics, vol. 3, no. 4, pp. 195-207, 2014

Authors: Ichhpujani, Parul | Singh, Rohan B.

Article Type: Research Article

Abstract: Glaucomatous optic neuropathy may be considered as an endpoint of multiple systemic factors. Genetic conditions commonly causing glaucoma in children and adolescents include Axenfeld-Reiger syndrome, aniridia, Marfan syndrome, Weill-Marchessani syndrome, Sturge-Weber syndrome, Rubinstein-Taybi syndrome, nevus of Ota, congenital rubella and neurofibromatosis type 1. In the recent years, with the advancements in genetic research our understanding of the fundamental causes of glaucoma associated with inherited disorders has improved. In addition to intraocular pressure reduction, it is important for the clinician to be familiar with the multiple systemic associations with glaucoma, to re-evaluate treatment frequently, and to target the underlying disease process, …if present. Show more

Keywords: Axenfeld-Reiger syndrome, aniridia, childhood glaucoma, congenital rubella, Marfan syndrome, nevus of Ota, neurofibromatosis type 1, Rubinstein-Taybi syndrome, Sturge-Weber syndrome

DOI: 10.3233/PGE-14103

Citation: Journal of Pediatric Genetics, vol. 3, no. 4, pp. 209-218, 2014

Authors: Nihalani, Bharti R.

Article Type: Research Article

Abstract: Pediatric genetic disorders of lens include various cataractous and non-cataractous anomalies. The purpose of this review is to help determine the genetic cause based on the lens appearance, ocular and systemic associations. Children with bilateral cataracts require a comprehensive history, ophthalmic and systemic examination to guide further genetic evaluation. With advancements in genetics, it is possible to determine the genetic mutations and assess phenotype genotype correlation in different lens disorders. The genetic diagnosis helps the families to better understand the disorder and develop realistic expectations as to the course of their child's disorder.

Keywords: Genetic disorders of lens, congenital cataract, syndromic cataract

DOI: 10.3233/PGE-14104

Citation: Journal of Pediatric Genetics, vol. 3, no. 4, pp. 219-227, 2014

Authors: Say, Emil Anthony T.

Article Type: Research Article

Abstract: Hereditary pediatric retinal diseases are a diverse group of disorders with pathologies affecting different cellular structures or retinal development. Many can mimic typical pediatric retinal disease such as retinopathy of prematurity, vitreous hemorrhage, retinal detachment and cystoid macular edema. Multisystem involvement is frequently seen in hereditary pediatric retinal disease. A thorough history coupled with a good physical examination can oftentimes lead the ophthalmologist or pediatrician to the correct genetic test and correct diagnosis. In some instances, evaluation of parents or siblings may be required to determine familial involvement when the history is inconclusive or insufficient and clinical suspicion is high.

Keywords: Hereditary retinal disease, pediatric retina, color blindness, night blindness, retinal vascular disease, retinal detachment, retinoschisis, vitreoretinopathy, albinism

DOI: 10.3233/PGE-14105

Citation: Journal of Pediatric Genetics, vol. 3, no. 4, pp. 229-241, 2014

Authors: Bergman, Mica Y. | Nallasamy, Sudha

Article Type: Research Article

Abstract: Genetic diseases of the macula and choroid have various inheritance patterns and varying degrees of impact on vision. Herein, we review the literature including most recent advances in the understanding of the genetics of these diseases. Although many of these disorders have limited treatment options, knowledge of inheritance patterns can aid in early detection and with close monitoring can help the ophthalmologist preserve as much vision as possible (for example with early treatment of choroidal neovascularization).

Keywords: Genetic macular disorders, genetic choroidal disorders, macular dystrophy

DOI: 10.3233/PGE-14106

Citation: Journal of Pediatric Genetics, vol. 3, no. 4, pp. 243-258, 2014

Authors: Rouhani, Behnaz | Ramasubramanian, Aparna

Article Type: Research Article

Abstract: Pediatric genetic ocular tumors include malignancies like retinoblastoma and phakomatosis like neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and nevoid basal cell carcinoma syndrome. It is important to screen for ocular tumors both for visual prognosis and also for systemic implications. The phakomatosis comprise of multitude of benign tumors that are aysmptomatic but their detection can aid in the diagnosis of the syndrome. Retinoblastoma is the most common malignant intraocular tumor in childhood and with current treatment modalities, the survival is more than 95%. It is transmitted as an autosomal dominant fashion and hence the offsprings of all patients with the …germline retinoblastoma need to be screened from birth. This review discusses the various pediatric genetic ocular tumors discussing the clinical manifestation, diagnosis and treatment. Show more

Keywords: Tumors, genetic, retinoblastoma, tuberous sclerosis, von Hippel-Lindau syndrome, neurofibromatosis, Gardner syndrome, Gorlin-Gotz syndrome, optic nerve glioma

DOI: 10.3233/PGE-14107

Citation: Journal of Pediatric Genetics, vol. 3, no. 4, pp. 259-269, 2014

Authors: Heidary, Gena

Article Type: Research Article

Abstract: Congenital and hereditary optic nerve anomalies represent a significant cause of visual dysfunction. While some optic nerve abnormalities affect the visual system alone, others may be associated with neurologic and systemic findings. Correct identification of the optic nerve disease therefore is crucial both for developing a treatment plan with respect to visual rehabilitation, but also for initiating the appropriate multidisciplinary evaluation. The purpose of this review is to highlight common examples of congenital and inherited optic nerve abnormalities in an effort to familiarize the clinician with salient clinical features of these diseases and to review important systemic testing when relevant.

Keywords: Optic nerve, coloboma, optic nerve hypoplasia, hereditary optic neuropathy, Aicardi syndrome, optic nerve drusen, optic nerve pit, morning glory disc

DOI: 10.3233/PGE-14108

Citation: Journal of Pediatric Genetics, vol. 3, no. 4, pp. 271-280, 2014

Authors: Sadiq, Mohammad Ali A. | ur Rehman, Munib

Article Type: Research Article

Abstract: The prevalence of congenital ocular malformations has been described to vary from 0.04 to 6.8 per 10,000 live births. The nuclear mutations identified in chronic progressive external ophthalmoplegia harbor multiple mtDNA deletions that include POLG mutations, PEO1 mutations, OPA1 mutations and RRM2B mutations. In Kearns-Sayre syndrome, the spontaneous mitochondrial deletions vary from 1.3 to 8.0 kb subunits of the oxidative phosphorylation enzymes and several t-RNA genes are affected. Oculopharyngeal muscle dystrophy is both autosomal dominant and recessive form. Congenital fibrosis of extraocular muscles (CFEOM) 1 has mutations in KIF21A on chromosome 12 with TUBB3 mutation also being seen. CFEOM 2 …is an autosomal recessive, genetically distinct entity with homozygous mutations in PHOX2A. CFEOM 3 is autosomal dominant heterozygous missense mutations in TUBB3. Most cases of Mobius syndrome are sporadic with familial cases being autosomal dominant, autosomal recessive or X-linked recessive inheritance. Genetic testing has shown abnormalities involving chromosome 1 and 13. Presynaptic congenital myasthenic syndrome is caused by ChAT (choline acetyltransferase) mutation. Two loci have been found for myotonic dystrophy (DM). DM1, which is associated with trinucleotide expansion on chromosome 19q13.3 and DM2 which is associated with CCTG tetranucleotide expansion at 3q21. Blepharophimosis is caused by mutations in the FOXL2 gene 49 located at chromosome 3q23. Lymphedema-distichiasis is an autosomal dominant disorder caused by mutations in the FOXC2 gene. Show more

Keywords: Genetics, eyelid, strabismus, chronic progressive external ophthalmoplegia, blepharophimosis, myasthenic syndromes, Mobius syndrome

DOI: 10.3233/PGE-14109

Citation: Journal of Pediatric Genetics, vol. 3, no. 4, pp. 281-290, 2014

Article Type: Other

Citation: Journal of Pediatric Genetics, vol. 3, no. 4, pp. 291-292, 2014