Background: Infants with congenital rubella syndrome (CRS) often require multiple diagnostic procedures and interventions that include cataract surgery and procedures for congenital heart abnormalities. CRS is a vaccine preventable disease. Objective: This study aimed to determine the costs incurred by the parents, Philippine Health Insurance Corporation (PHIC), hospital's medical social service (MSS), and non-governmental organization (NGO) in the management of CRS. Methods: This is a costing study of five children diagnosed with probable CRS who were managed in a tertiary government hospital in Northern Luzon, Philippines. The parents or guardians of the patients were interviewed on the cost incurred particularly on non-medical related expenses during their outpatient department consultations and admissions. Hospital bills from our institutions and those from the previous institutions, if available, were retrieved. Expenses incurred from procedures or medical supplies relating to known complications of CRS were included in the computation. Results: All five patients diagnosed with CRS had cardiac, ear, and eye manifestations. Two patients had postnatal complications. The average cost spent by the five patients' early years of life (mean age of patients was 16 ± 14 months) was ₱409,740.84. A quarter of the cost was out-of-pocket expenses while a third was covered by the hospital's MSS where the patients were seen. Another third was shouldered by an NGO. Most expenses were from the treatment of cardiac complications at 42% of the cost and had the highest average cost at ₱116,586.59. Case 1 had the highest financial cost at ₱833,514.24 mainly from the cardiac complications of CRS. Conclusion The cost of CRS in the early years of life is high. This is a significant financial burden to parents, PHIC, hospital's MSS, and NGO.
Congenital rubella syndrome ; cataract

Congenital rubella syndrome (CRS) cases being seen in a tertiary hospital in Baguio rose in 2020 during the COVID-19 pandemic. Its communicability presented logistical challenges to the hospital as additional contact and droplet precautions, including COVID-19 RT-PCR testing, were needed to be observed to prevent rubella transmission. The operations of the institute have also been disrupted and compromised since its space and resources were diverted to the pandemic response. A probable rubella transmission occurred when a patient with CRS was admitted for cataract surgery but was delayed due to the COVID-19 RT-PCR test requirement. Another patient admitted from the Outpatient Department on the same day developed maculopapular rashes for three days during admission but with no febrile episodes and lymphadenopathy. These cases showed how managing CRS cataracts got complicated by the current COVID-19 pandemic which resulted in the review and proposal to revise current hospital policies to minimize the exposure of vulnerable individuals and prevent future transmission.
Rubella Syndrome, Congenital ; Cataract ; COVID-19

OBJECTIVE: To compare the difference in intraocular pressure (IOP) readings as well as the tolerability between Icare rebound tonometer (Icare RBT) and Goldmann applanation tonometer (GAT), and to evaluate the application of Icare RBT in monitoring the intraocular pressure in children after congenital cataract surgery. METHODS: The IOP was measured with the Icare RBT and GAT respectively in 150 children (262 eyes) after congenital cataract surgery by two experienced ophthalmologists. Correlation and Bland-Altman analysis were used to assess the agreement in IOP readings between the two instruments. The influence of the central corneal thickness (CCT) adjusted for age on IOP readings was analyzed by linear regression analysis. The tolerance of the patients to Icare RBT and GAT measurement were surveyed. RESULTS: The mean age was (44.82 ± 11.56) months in 150 children, including 81 boys and 69 girls. The mean IOP readings by the Icare RBT and GAT were (16.08 ± 5.72) mmHg and (14.17 ± 5.05) mmHg, respectively. The mean difference between the Icare RBT and GAT was (1.91 ± 2.04) mmHg, which was significantly correlated with CCT (r=0.409, P<0.001). The IOP readings by Icare RBT was significantly correlated with that measured by GAT(r= 0.936, P<0.001). The 95% confidence interval of the difference between the two instruments was ?2.10 to 5.91 mmHg. The Icare RBT examination was well tolerated by the children compared to the GAT examination. CONCLUSION The Icare RBT is easy to use and well tolerated by the children after congenital cataract surgery. Compared to GAT, the value measured by the IOPs trends to be overestimated. The difference in readings between the 2 tonometers will magnify with the increase in CCT.
Cataract ; congenital ; Cataract Extraction ; Child, Preschool ; Female ; Humans ; Intraocular Pressure ; Male ; Tonometry, Ocular ; instrumentation

Twenty cases who had underwent extracapsular cataract extraction with pupilloplasty followed by implantation of posterior chamber intraocular lens (PCL) were followed up more than 3 months from May 1989 to April 1991. Postoperative uncorrected visual acuity was improved in all cases. Corrected visual acuity was 20/40 or better in 13 cases (65% of all cases) and refractive state was myotic (-1.1D in average) at 2 months after operation. Postoperative astigmatism was -1.3D in average at 2 months after operation, which became -0.8D in average at 1 year after operation. Postoperatively vitreous prolapse occured in 1 case and increased intraocular pressure due to posterior synechiae was observed in 1 case. After-catract developed in 1 case. We obtained good clinical results after ECCE and PCL implantation in leprosy patients for whom wearing the contact lens and glasses were impractical due to hand and finger deformities.
Astigmatism ; Cataract Extraction ; Cataract* ; Congenital Abnormalities ; Eyeglasses ; Fingers ; Glass ; Hand ; Humans ; Intraocular Pressure ; Lenses, Intraocular* ; Leprosy ; Prolapse ; Visual Acuity

BACKGROUNDDense congenital cataracts often cause severe visual impairment. The results of long-term follow-up of dense bilateral congenital cataract in China have not been well documented. The purpose of this study was to evaluate the long-term visual function in children who underwent cataract extraction for dense bilateral congenital cataract in southern part of China.

METHODSMedical records of children who underwent surgery of dense bilateral congenital cataract between January 1992 and December 2000 at Zhongshan Ophthalmic Center of Sun Yat-sen University were retroactively reviewed. In 38 children available for current follow-up, best corrected visual acuity (BCVA) and stereoscopic vision, as well as nystagmus, strabismus, and other complications, were evaluated. The mean follow-up period was 107.6 months (range 60 to 167 months).

RESULTSThe mean age of cataract extraction and secondary intraocular lens implantation were 5.6 months (range 3 to 12 months) and 4.2 years (range 2.4 to 15 years), respectively. The mean BCVA was 0.25 in the better eye and 0.16 in the fellow eye. Stereoscopic vision was absent in all patients, and 3 children had simultaneous perception. Nystagmus was detected in all cases and strabismus in 35 cases. A high correlation was found between timing of cataract extraction and final BCVA of the better eye (r = -0.55, P = 0.00). A statistically significant difference was found in BCVA between post- and pre-treatment of amblyopia (t = 5.65, P = 0.00).

CONCLUSIONSLong-term visual function in children with dense bilateral congenital cataract was poor when cataract surgery was performed at age of 3 months or later. Earlier cataract surgery with adequate optical rehabilitation contributed to better visual outcome.

Adolescent ; Cataract ; congenital ; Cataract Extraction ; Child ; Child, Preschool ; Follow-Up Studies ; Humans ; Infant ; Retrospective Studies ; Visual Acuity

Adolescent ; Adult ; Cataract ; congenital ; genetics ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Young Adult

Complicated microphthalmos can be diagnosed when a reduction in global dimension is combined with other ocular anomalies. These include corneal opacities or staphylomas, cataract, aniridia, corectopia, persistance of pupillary membrane or the tunica vasculosa lentis and hyaloid vessel, thickening or ossification of the choroid and various retinal anomalies. Such a deformity is frequently bereditary, and the transmission may be either as an autosomal dominant or recessive or as a sex linked recessive character. A 10-day-old female infant was found to have unilateral microphthalmos with microcornea, corneal opacity, and aphakia.
Aniridia ; Aphakia ; Cataract ; Choroid ; Congenital Abnormalities ; Corneal Opacity ; Female ; Humans ; Infant ; Membranes ; Microphthalmos ; Retinaldehyde

Aniridia or irideremia is characterized by reduction of iris or absence of total iris, but a rudimentary iris is always present in most cases. This congenital anomaly is familial and the transmission is strongly dominant by an autosomal gene. It demonstrates high penetrance and variable expression. Aniridia is mainly due to a primary defect in development of the neural ectoderm and an aberrant development of the mesoderm. Glaucoma and cataract in the eye is frequently complicated with other deformities of the body and the treatment is not satisfactory. The author have experienced a case of aniridic family which is composed of 7 persons. Of these, the father, one son and 3 daughters are affected with aniridia, cataract, nystagmus and amblyopia and the mother and one son are healthy. The author reports this cases with the review of literature.
Amblyopia ; Aniridia* ; Cataract ; Congenital Abnormalities ; Ectoderm ; Fathers ; Glaucoma ; Humans ; Iris ; Mesoderm ; Mothers ; Nuclear Family ; Penetrance

Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels. A unique cataract was observed in a 4-generation Chinese family, which was characterized by autosomal dominant inheritance and late-onset. Mutations in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear. This study was designed to find whether these 13 genes developed any mutation in the family members and to identify the disease-causing gene. Polymerase chain reaction (PCR) and direct DNA sequence analysis were carried out to detect the 13 genes. The results showed that no mutation causing amino acid alternations was found in these potential candidate genes among all patients in the family, and only several single-nucleotide polymorphisms (SNPs) were identified. A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family, but further study showed that these mutations could also be found in normal controls. It was concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family. A genome-wide screening will be carried out in the next study.
Adult ; Cataract ; congenital ; genetics ; China ; DNA Mutational Analysis ; Female ; Genes, Dominant ; Humans ; Male ; Middle Aged ; Pedigree

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with congenital cataracts. METHODS: Clinical data and peripheral blood samples were collected for the pedigree. Following extraction of genomic DNA, whole exome sequencing was carried out to detect genetic variants. Candidate variants were verified by familial co-segregation analysis and Sanger sequencing. Bioinformatics analysis was carried out to predict the function of mutant genes. RESULTS: By comparing variants identified among affected and unaffected individuals, a heterozygous variant, c.110 G>C (p.R37P), was identified in exon 2 of the CRYGC gene among all patients, which also matched the criteria for potential disease-causing mutations. The result was confirmed by Sanger sequencing. CONCLUSION The c.110G>C variant of the CRYGC gene probably underlay the congenital cataracts in this pedigree.
Asian Continental Ancestry Group ; Cataract ; congenital ; genetics ; China ; Heterozygote ; Humans ; Mutation ; Pedigree ; gamma-Crystallins ; genetics