Identification of Ocular and Auditory Manifestations of Congenital Rubella Syndrome in Mbingo

Jivraj, Imran; Rudnisky, Christopher J.; Tambe, Emmanuel; Tipple, Graham; Tennant, Matthew

doi:10.1155/2014/981312

Cited by 15 publications

(14 citation statements)

References 14 publications

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“…The authors recruited 320 children from two different schools in the Northwest region of Cameroon, including one school for the deaf. They found that hearing-impaired children were seven times more likely to have positive rubella IgG serology (48.7%) than children with normal hearing (7.4%; p < 0.0001) [40].…”

Section: Etiologies Of Hearing Impairment In Cameroonmentioning

confidence: 99%

“…Pure tone audiometry (PTA) was the most frequent tool used to diagnose HI. The study quality was high, moderate and low in ten [26][27][28][29][30][31][32][33][34][35], three [36][37][38] and four [39][40][41][42] studies, respectively.…”

Section: Characteristics Of Included Studiesmentioning

confidence: 99%

“…Infectious diseases that are preventable by vaccination (meningitis, measles, rubella and mumps) represented 41.3% of cases [27]. A cross-sectional study performed in 2014 emphasized the link between rubella infection and deafness [40]. The authors recruited 320 children from two different schools in the Northwest region of Cameroon, including one school for the deaf.…”

Section: Etiologies Of Hearing Impairment In Cameroonmentioning

confidence: 99%

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Hearing Impairment Overview in Africa: the Case of Cameroon

Tingang

Noubiap

Fokouo³

et al. 2020

Genes

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The incidence of hearing impairment (HI) is higher in low- and middle-income countries when compared to high-income countries. There is therefore a necessity to estimate the burden of this condition in developing world. The aim of our study was to use a systematic approach to provide summarized data on the prevalence, etiologies, clinical patterns and genetics of HI in Cameroon. We searched PubMed, Scopus, African Journals Online, AFROLIB and African Index Medicus to identify relevant studies on HI in Cameroon, published from inception to 31 October, 2019, with no language restrictions. Reference lists of included studies were also scrutinized, and data were summarized narratively. This study is registered with PROSPERO, number CRD42019142788. We screened 333 records, of which 17 studies were finally included in the review. The prevalence of HI in Cameroon ranges from 0.9% to 3.6% in population-based studies and increases with age. Environmental factors contribute to 52.6% to 62.2% of HI cases, with meningitis, impacted wax and age-related disorder being the most common ones. Hereditary HI comprises 0.8% to 14.8% of all cases. In 32.6% to 37% of HI cases, the origin remains unknown. Non-syndromic hearing impairment (NSHI) is the most frequent clinical entity and accounts for 86.1% to 92.5% of cases of HI of genetic origin. Waardenburg and Usher syndromes account for 50% to 57.14% and 8.9% to 42.9% of genetic syndromic cases, respectively. No pathogenic mutation was described in GJB6 gene, and the prevalence of pathogenic mutations in GJB2 gene ranged from 0% to 0.5%. The prevalence of pathogenic mutations in other known NSHI genes was <10% in Cameroonian probands. Environmental factors are the leading etiology of HI in Cameroon, and mutations in most important HI genes are infrequent in Cameroon. Whole genome sequencing therefore appears as the most effective way to identify variants associated with HI in Cameroon and sub-Saharan Africa in general.

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Section: Etiologies Of Hearing Impairment In Cameroonmentioning

confidence: 99%

Section: Characteristics Of Included Studiesmentioning

confidence: 99%

Section: Etiologies Of Hearing Impairment In Cameroonmentioning

confidence: 99%

See 1 more Smart Citation

Hearing Impairment Overview in Africa: the Case of Cameroon

Tingang

Noubiap

Fokouo³

et al. 2020

Genes

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“…Gestational age at time of confirmed rubella infection, clinical manifestation of congenital rubella syndrome and vertical transmission rate . [Colour figure can be viewed at wileyonlinelibrary.com…”

Section: Discussionmentioning

confidence: 99%

“…Classical postnatal manifestations of congenital rubella syndrome are deafness, cataract and cardiac anomalies, but this is only typical for early infection prior to 11 weeks. As the gestational age at rubella infection increases, rates of vertical transmission decrease and the fetal manifestations of congenital rubella syndrome become less severe 15 (Figure 7). Other prenatal features include intrauterine growth restriction, multi-cystic kidney, meconium peritonitis, hepatosplenomegaly and microcephaly with intracranial calcifications.…”

Section: Causesmentioning

confidence: 99%

Congenital cataracts – Clinical considerations in ultrasound diagnosis and management

Thayalan

Kothari

Khanna

et al. 2020

Australas J Ultrason Med

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Paediatric cataracts are one of the more common ocular abnormalities that occur in approximately 6 in 10,000 infants and are a major cause of childhood blindness. A suggested pathological mechanism for congenital cataract formation is the abnormal arrangement of lens fibres during embryogenesis. While toxins, chromosomal abnormalities, infections and metabolic disorders account for the majority of the cases, up to 87% of unilateral cataracts remain idiopathic, making disease prevention an ongoing challenge. Early diagnosis and timely referral to ensure effective genetic counselling and postnatal follow‐up is paramount to prevent long‐term visual consequences. We describe three cases of congenital cataracts with incongruence in antenatal ultrasound findings and postnatal results. Improvement over time in the diagnostic sensitivity of ultrasound allows for early diagnosis of congenital cataracts, yet there is little published evidence regarding the sensitivity and specificity of ultrasound as a diagnostic modality. As congenital cataracts have significant long‐term implications if left untreated, such as loss of visual capacity and amblyopia, a targeted ultrasound survey should be performed at morphology scans, with a special focus on the orbital region. This should be extended to those with a significant family history of fetal eye abnormalities and severe malformations. Given the high proportion of idiopathic congenital cataracts, the scope of developing other preventative strategies is limited. Early and accurate diagnosis in the antenatal period may be feasible, by thorough examination of the eyes to detect ocular anomalies, especially in high‐risk individuals.

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Long-term retinal imaging of a case of suspected congenital rubella infection

Langlo

Trotter

Reddi

et al. 2022

American Journal of Ophthalmology Case Reports

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Purpose Many retinal disorders present with pigmentary retinopathy, most of which are progressive conditions. Here we present over nine years of follow up on a case of stable pigmentary retinopathy that is suspected to stem from a congenital rubella infection. Parafoveal cone photoreceptors were tracked through this period to gain insight into photoreceptor disruption in this pigmentary retinopathy. Methods The patient was examined at 8 visits spanning a total of 111 months. Examination at baseline included clinical fundus examination, full-field electroretinography (ERG), kinetic visual field assessment (Goldmann), and best corrected visual acuity; all of these except ERG were repeated at follow up visits. Imaging was performed with fundus photography, spectral-domain optical coherence tomography (SD-OCT) and confocal adaptive optics scanning light ophthalmoscopy (AOSLO). For the latter four time points AOSLO imaging also included split-detector imaging. Results There were no defects in hearing or cardiac health found in this patient. There were minimal visual deficits found at baseline, with mild rod suppression on ERG; best corrected visual acuity was 20/25 OD and 20/20 OS at baseline, which was stable throughout the follow-up period. Retinal thickness as measured by OCT was within the normal range, though foveal hypoplasia was present and outer nuclear layer thickness was slightly below the normal range at all time points. Cone density was relatively stable throughout the follow-up period. A number of cones were non-reflective when observed with confocal AOSLO imaging and density was markedly lower than expected values (foveal cone density was 43,782 cones/mm 2 on average). Genetic analysis revealed no causative variations explaining the phenotype. Conclusions and Importance This patient appears to have a stable pigmentary retinopathy. This case is likely due to a congenital insult, rather than progressive retinal disease. This finding of stability agrees with other reports of rubella pigmentary retinopathy. Imaging with AOSLO enabled observation of two notable phenotypic features. First is the observation of dark cones, which are seen in many retinal disorders including color vision defects and degenerative retinal disease. Second, the cone density is well below what is expected – this is especially interesting as this patient has near-normal visual acuity despite this greatly decreased number of normally-waveguiding cones in the fovea.

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Identification of Ocular and Auditory Manifestations of Congenital Rubella Syndrome in Mbingo

Cited by 15 publications

References 14 publications

Hearing Impairment Overview in Africa: the Case of Cameroon

Hearing Impairment Overview in Africa: the Case of Cameroon

Congenital cataracts – Clinical considerations in ultrasound diagnosis and management

Long-term retinal imaging of a case of suspected congenital rubella infection

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