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Cureus Oct 2022Cataract is the leading cause of childhood blindness in developing countries. Early detection and treatment of childhood cataracts can reduce the burden of blindness in... (Review)
Review
Cataract is the leading cause of childhood blindness in developing countries. Early detection and treatment of childhood cataracts can reduce the burden of blindness in the nation. Often the etiology of pediatric cataract is idiopathic; however, genetics play a role in the development of congenital cataract. According to epidemiologists, one-fourth of cases of congenital cataracts are hereditary. Gene responsible for the development of cataract is identified using gene mapping, which helps to prevent future blindness in the family. Cataracts can also present with systemic disease, microphthalmia, microcornea, and aniridia. The presentation of cataracts varies in individuals, some are symptomatic while others are asymptomatic. Parents after noticing strabismus and leukocoria bring their children to an ophthalmologist. Early diagnosis can restore visual function in cases of congenital cataract. In young babies, the type of cataract is determined using slit-lamp examination and examination under anesthesia in OR. Most cases of pediatric cataracts are accidental findings during routine checkups. On direct ophthalmoscopy, red reflex is not appreciated in cases of cataracts. Advancing technology changes the ophthalmologist's approach to pediatric cataract surgery, improving postoperative refractory function. In children, minor incision surgery was preferred to heal early. An appropriate choice of intraocular lens (IOL) should be made for implantation in a child's eye to avoid postimplanted complications. Inflammation and amblyopia affect the outcome of treatment. Complications of cataract surgery include posterior capsule opacification, glaucoma, inflammation, and uveitis.
PubMed: 36381901
DOI: 10.7759/cureus.30135 -
Journal of Pediatric Neurosciences 2020Osteoporosis pseudoglioma syndrome is characterized by intellectual disability, osteoporosis of bones and eye abnormalities. We report, a 14-year-old female child...
Osteoporosis pseudoglioma syndrome is characterized by intellectual disability, osteoporosis of bones and eye abnormalities. We report, a 14-year-old female child presented with walking difficulty with frequent falls followed by deformity of left leg. On examination, bilateral micropthalmia, microcornea, corneal clouding, vitreo-retinal detachment, and atrophic irises. She had deformity of left lower limb, anterior bowing of both tibia, lax skin, hyperextensible joints. Skeletal survey showed severe osteoporosis with fracture of left femur and fish mouth vertebra. She had normal serum calcium, phosphorus, and alkaline phosphatase levels. Targeted next generation testing revealed homozygous pathogenic variant in exon 6 at c.1096G>A/p.V366 M and confirmed by Sanger sequencing. Early diagnosis and treatment are helpful in preventing further fractures and osteoporosis.
PubMed: 33531964
DOI: 10.4103/jpn.JPN_107_20 -
Vision (Basel, Switzerland) Feb 2021Glaucoma is a common and sight-threatening complication of pediatric cataract surgery Reported incidence varies due to variability in study designs and length of... (Review)
Review
Glaucoma is a common and sight-threatening complication of pediatric cataract surgery Reported incidence varies due to variability in study designs and length of follow-up. Consistent and replicable risk factors for developing glaucoma following cataract surgery (GFCS) are early age at the time of surgery, microcornea, and additional surgical interventions. The exact mechanism for GFCS has yet to be completely elucidated. While medical therapy is the first line for treatment of GFCS, many eyes require surgical intervention, with various surgical modalities each posing a unique host of risks and benefits. Angle surgical techniques include goniotomy and trabeculotomy, with trabeculotomy demonstrating increased success over goniotomy as an initial procedure in pediatric eyes with GFCS given the success demonstrated throughout the literature in reducing IOP and number of IOP-lowering medications required post-operatively. The advent of microcatheter facilitated circumferential trabeculotomies lead to increased success compared to traditional <180° rigid probe trabeculotomy in GFCS. The advent of two-site rigid-probe trabeculotomy indicated that similar results could be attained without the use of the more expensive microcatheter system. Further studies of larger scale, with increased follow-up, and utilizing randomization would be beneficial in determining optimum surgical management of pediatric GFCS.
PubMed: 33562514
DOI: 10.3390/vision5010009 -
Indian Journal of Endocrinology and... Dec 2012We present here a case of 17-year-old boy from Kolkata presenting with obesity, bilateral gynecomastia, mental retardation, and hypogonadotrophic hypogonadism. The...
We present here a case of 17-year-old boy from Kolkata presenting with obesity, bilateral gynecomastia, mental retardation, and hypogonadotrophic hypogonadism. The patient weighed 70 kg and was of 153 cm height. Facial asymmetry (unilateral facial palsy), gynecomastia, decreased pubic and axillary hair, small penis, decreased right testicular volume, non-palpable left testis, and right-sided congenital inguinal hernia was present. The patient also had disc coloboma, convergent squint, microcornea, microphthalmia, pseudohypertelorism, low set ears, short neck, and choanalatresia. He had h/o VSD repaired with patch. Laboratory examination revealed haemoglobin 9.9 mg/dl, urea 24 mg/dl, creatinine 0.68 mg/dl. IGF1 77.80 ng/ml (decreased for age), GH <0.05 ng/ml, testosterone 0.25 ng/ml, FSH-0.95 μIU/ml, LH 0.60 ΅IU/ml. ACTH, 8:00 A.M cortisol, FT3, FT4, TSH, estradiol, DHEA-S, lipid profile, and LFT was within normal limits. Prolactin was elevated at 38.50 ng/ml. The patient's karyotype was 46XY. Echocardiography revealed ventricularseptal defect closed with patch, grade 1 aortic regurgitation, and ejection fraction 67%. Ultrasound testis showed small right testis within scrotal sac and undescended left testis within left inguinal canal. CT scan paranasal sinuses revealed choanalatresia and deviation of nasal septum to the right. Sonomammography revealed bilateral proliferation of fibroglandular elements predominantly in subareoalar region of breasts. MRI of brain and pituitary region revealed markedly atrophic pituitary gland parenchyma with preserved infundibulum and hypothalamus and widened suprasellar cistern. The CHARGE association is an increasingly recognized non-random pattern of congenital anomalies comprising of coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or deafness.[1] These anomalies have a higher probability of occurring together. In this report, we have described a boy with CHARGE association.
PubMed: 23565479
DOI: 10.4103/2230-8210.104146 -
Ophthalmology Science Mar 2022Crystallin protein mutations are associated with congenital cataract (CC), and several disease-causing mutations in the gene have been identified. We present the...
PURPOSE
Crystallin protein mutations are associated with congenital cataract (CC), and several disease-causing mutations in the gene have been identified. We present the location of a new mutation in in members of a Chinese family who presented with CCs with or without microcornea.
DESIGN
Observational study.
PARTICIPANTS
A Chinese family diagnosed with autosomal dominant (AD) CCs with or without microphthalmia.
METHODS
Because this was an observational study, it was not registered as a clinical trial. The proband and her 2 children were diagnosed with AD CCs and microcornea and were recruited for the study. Participants underwent complete ophthalmological examinations, and blood samples were used for genomic extraction.
MAIN OUTCOME MEASURES
We detected 1 disease-associated variant using Exomiser analysis by matching the proband's phenotype and the inheritance pattern. The variant was determined to be pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines.
RESULTS
We detected 1 disease-associated variant using Exomiser analysis by matching the proband's phenotype and the inheritance pattern. The variant was determined to be pathogenic according to the American College of Medical Genetics and Genomics guidelines. Next-generation sequencing was verified using Sanger sequencing, and we confirmed that the proband and her children carried the same mutation. We identified the heterozygous variant c.389_390insGCTG (p.C130fs), which includes a frameshift mutation. The residues in p.C130fs are all highly conserved across species. This disease-causing frameshift mutation in the gene is not currently present in the ClinVar database.
CONCLUSIONS
Our findings expand the repertoire of known mutations in the gene that cause CCs and provide new insights into the etiology and molecular diagnosis of CCs; however, the molecular mechanism of this mutation warrants further investigation.
PubMed: 36246175
DOI: 10.1016/j.xops.2021.100093 -
Annals of Translational Medicine Nov 2020Congenital cataract is a rare eye disease, one of the leading treatable causes of low vision in children worldwide. Hereditary cataracts can be divided in syndromic and... (Review)
Review
Congenital cataract is a rare eye disease, one of the leading treatable causes of low vision in children worldwide. Hereditary cataracts can be divided in syndromic and non-syndromic cataracts. Early diagnosis in congenital cataracts is key to reach good visual function. Current surgical techniques, that combine microincision cataract extraction and primary intraocular lens (IOL) implantation, have improved childhood cataract outcome. Complications include posterior capsule opacification (PCO), aphakic or pseudophakic glaucoma, uveitis, pupil displacement and IOL decentration. A recent study using a modified Delphi approach identified areas of consensus and disagreement in the management of pediatric cataract. A consensus or near consensus was achieved for 79% of the questions, however 21% of the questions remained controversial, as for IOL implantation strategy. Congenital cataracts show a highly variable phenotype and genotype, and can be related to different mutations, genetic variance, and other risk factors. Congenital cataracts can be associated with other ocular developmental abnormalities, including microphthalmia, microcornea, or aniridia and with systemic findings. Next-generation sequencing (NGS) and forthcoming new ultra-high-throughput sequencing represent excellent tools to investigate the genetic causes of congenital cataracts. A better recognition of different clinical presentations and underlying etiologies of congenital cataracts may lead to the development of new approaches to improve visual outcome after cataract surgery and promote early detection of systemic associated syndromes.
PubMed: 33313290
DOI: 10.21037/atm-20-3033