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An Approach to Visual Loss in a Child
Published in Vivek Lal, A Clinical Approach to Neuro-Ophthalmic Disorders, 2023
Muhammad Hassaan Ali, Stacy L. Pineles
Congenital cataract affects about 3–5/1000 infants (41). Genetics, antenatal maternal infections and metabolic disorders are considered to be the most common causes of congenital cataracts (42). Early recognition of this pathology is essential to prevent development of dense amblyopia. Pediatricians should be trained to evaluate red reflex of the newborn. If they find any abnormality in red reflex or leukocoria, they should refer the baby for evaluation by a pediatric ophthalmologist. The mother and the affected baby with congenital cataract should be screened for toxoplasmosis, rubella, cytomegalovirus and herpetic infections (TORCH infections). Similarly, pediatricians should evaluate the baby for all metabolic disorders. Rubella is still considered to be a major etiological agent in developing countries. So, the child should undergo detailed systemic evaluation to rule out any other features of congenital rubella syndrome including heart, ear and skin abnormalities.
Cataract and Cataract Surgical Coverage
Published in Ching-Yu Cheng, Tien Yin Wong, Ophthalmic Epidemiology, 2022
Olusola Olawoye, Priya Adhisesha Reddy, Ving Fai Chan, Prabhath Piyasena, Nathan Congdon
Congenital cataracts refer to a lens opacity that appears at birth whereas an infantile cataract develops during the first year of life. Each year, 20,000–40,000 new cases of bilateral congenital cataract are diagnosed globally.40,42 About a third of all pediatric cataracts are inherited, a third are associated with ocular abnormalities or systemic syndromes, and a third have undetermined causes. Specific causes of congenital cataracts include intrauterine infections such as rubella, ocular toxoplasmosis, congenital syphilis, metabolic disorders such as galactosemia, chromosomal abnormalities, systemic syndromes such as Down’s, Wilson’s syndrome, and myotonic dystrophy. The etiology of many cases of congenital/infantile cataracts remains unknown.
Newborn and infant physical examination (NIPE)
Published in Alison Edwards, Postnatal and Neonatal Midwifery Skills, 2020
Assess clarity of the cornea (the cornea diameter in a term baby should be similar to the width of the practitioner's little fingertip). Refer if signs of congenital cataracts, as this requires prompt surgery.
Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report
Published in Ophthalmic Genetics, 2021
Subhi Talal Younes, James Mason Shiflett, Kristin Weaver, Andrew Smith, Betty Herrington, Charlotte Taylor, Kartik Reddy
The patient was born at 37 weeks gestational age via uncomplicated spontaneous vaginal delivery. He developed neonatal hyperbilirubinemia necessitating phototherapy for the first week of life. Over the course of the following 3 weeks of life, the mother noted that he did not open his eyes, a finding that was initially variably attributed to conjunctivitis or allergic reaction to the mask worn underneath the UV light. A thorough eye exam by ophthalmology was performed at 2 months of age revealing bilateral congenital cataracts and glaucoma. Exam under anesthesia and exploratory surgery identified bilateral retinal detachments, which were unable to be repaired intraoperatively. Given these findings, the possibility of an NDP-related retinopathy was raised, and the patient was referred to the genetics clinic. A pathogenic, hemizygous c.238 T > C producing a Cys95Arg mutation in the NDP gene was detected by next-generation sequencing and confirmed by Sanger sequencing. This mutation has been previously reported and is known to be pathogenic (11).
SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family
Published in Ophthalmic Genetics, 2021
Asha Deepthi, Omar Fakhoury, Mohamad Daher, Alicia Gambarini, Stephany El-Hayek, André Megarbane
His younger brother (Figure 1b) was born 3 years later after a normal pregnancy. According to the parents, he had a similar clinical course as his affected brother. He was seen in our clinic at the age of 10 years. His OFC was 49.5 cm (50th percentile), height 103 cm, and weight was 15 Kg (both 5th percentile). His developmental milestones were in the normal limits; he walked unhelped at age 13 months and talked at age 26 months. He was enrolled in a special school for the blind. Clinical ophthalmological examination and A/B scan revealed anophthalmia with no vestigial tissues or any eye remnants on the right side, and microphthalmia along with sclerocornea on the left side. Corrective surgery was performed previously by penetrating keratoplasty. Additionally, presence of congenital cataract was noted. No eyelid abnormalities, iris coloboma or any other abnormalities were observed (Table 1).
A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia
Published in Current Eye Research, 2020
Aixia Jin, Yu Zhang, Dongchang Xiao, Mengqing Xiang, Kangxin Jin, Mingbing Zeng
A loss of lens transparency due to opacification of the lens causes cataract, which affected 95 million people worldwide as summarized by WHO in 2014. Congenital cataract refers to lens opacity that occurs at birth or shortly thereafter. Not all congenital cataracts are hereditary, environmental factors, such as intrauterine infections, toxic effects and metabolic disorders are also etiological causes.3–5 The pooled prevalence for congenital cataracts was about 4.24 per 10,000 people and was highest in Asia.6 Understanding early-onset congenital diseases remains critical to understand human diseases throughout the body. However, the relationship between congenital and major aging-dependent cataracts is still under study. With the advance of whole exome or genome sequencing, more than 50 genes have been identified to cause idiopathic (isolated) congenital/pediatric cataract.7 Despite this, many of the hereditary cataract cases remain genetically undeciphered.3,5,7