A nationwide Danish study of 1027 cases of congenital/infantile cataracts: Etiological and clinical classifications

doi:10.1016/j.ophtha.2004.06.024

Ophthalmology

Volume 111, Issue 12, December 2004, Pages 2292-2298

Presented at: XIth Nordiska Barnoftalmogiska Kongressen, September, 2003; Uppsala, Sweden.

https://doi.org/10.1016/j.ophtha.2004.06.024 Get rights and content

Objective

To study the distribution of congenital/infantile cataract in the entire population of Denmark according to etiological and clinical classifications.

Design

Population-based cohort study with retrospective chart review.

Participants

All children (0 to 17 years old) who were born between 1959 and 2001 and registered with congenital/infantile cataract in Denmark during the period 1977 to 2001. Cases were ascertained from the mandatory Danish National Register of Patients, and all medical records were reviewed.

Methods

Etiological and clinical classifications of the cataract cases were based on information from the medical records.

Main outcome measures

Classification of congenital/infantile cataract according to presumed etiology; gender; clinical appearance, including laterality and morphology; and the time trends according to etiology and laterality.

Results

A total of 1027 children with congenital/infantile cataract, 529 boys and 498 girls, were included, of whom 64% were bilateral. Males predominated with bilateral cataract, whereas females predominated with unilateral cases. Isolated cataract was the most frequent clinical presentation (71% of all cases), followed by an even proportion of cataract associated with additional ocular dysmorphology and cataract associated with systemic anomalies. Almost two thirds of all cases had an unknown etiology (idiopathic). Idiopathic cases showed a higher proportion of unilateral cataract and of additional ocular dysmorphology compared with cases of known etiology. The etiology was unknown in 87% of unilateral cases and in 50% of bilateral cases. The distribution by presumed etiology was stable during the study period, except for cataract caused by maternal infections, which decreased mainly due to the elimination of congenital rubella.

Conclusions

With the exception of the decline of congenital rubella, the proportion of congenital/infantile cataract cases of unknown, genetic, and infectious origins has been stable since the late 1970s. The causes of 87% of unilateral cataracts and 50% of bilateral congenital/infantile cataracts remain unknown, making the prevention of the disease a continuing challenge.

Section snippets

Materials and methods

All children (0 to 17 years old) with a hospital discharge diagnosis code of congenital or infantile cataract recorded in the Danish National Register of Patients (NRP) during the period 1977 to 2001 were selected. Thus, our study population included birth cohort years from 1959 to 2001. Children born abroad but registered with cataract in Denmark were included (4%). The NRP was established in 1977 and contains all discharge diagnoses of patients admitted to public hospitals (inpatients). Since

Ascertainment and validation of cases

Overall, 1093 children (0 to 17 years old) were registered with a diagnosis of congenital or infantile cataract in the Danish NRP during 1977 to 2001. We excluded 132 of these cases, 30 because the medical records were not available for evaluation and 102 because of erroneous diagnosis (no cataract at all [n = 60] or not congenital/infantile cataract according to our definition [n = 42]). However, among the additionally reviewed medical records of confirmed cataract cases originally coded as

Discussion

In this study, the 2 major etiological groups of congenital/infantile cataract were idiopathic and then genetic, and the majority of cases were bilateral. Most of the bilateral patients were male, and most of the unilateral, female. The idiopathic cases differentiated themselves clinically from the cases of known etiology primarily by an equal distribution of laterality (the majority of cases of known etiology being bilateral) and by a higher proportion of cases with additional ocular

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We highlight the importance of screening syndromic diseases in the patients with asymmetrical congenital cataracts. Application of whole-exome sequencing helps provide early diagnosis and treatment for the patients with syndromic congenital cataracts. This study also achieved a high genetic diagnostic yield, expanded the genotypic spectrum, and found phenotype-genotype correlations. A comprehensive analysis of cataract symmetricity, family history, and deep phenotypes makes the genotype prediction of some congenital cataract patients possible.
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Infantile cataracts remain one of the most treatable causes of lifelong visual impairment. While the chance of improving vision for children with infantile cataracts has never been better, significant global and socioeconomic disparities still exist in their early management. Recent epidemiological studies reveal a stable prevalence of infantile cataracts in high-income countries and highlight challenges in determining the prevalence of infantile cataracts in low-income countries. Detailed descriptions of cataract morphology may inform us as to etiology, provide guidance with regards to surgical approach, and have prognostic value. Molecular genetics is providing new insights into the hereditary bases and potential systemic associations of infantile cataracts. For visually significant infantile cataracts requiring surgery to clear the visual axis, surgical techniques continue to evolve based on the experiences and research efforts of skilled teams worldwide. The most common complications of cataract surgery performed in infancy are visual axis opacification and, in about a third of patients, the long-term development of glaucoma. Children with unilateral cataracts generally see well given the presence of a healthy fellow eye. Better visual outcomes in operated eyes, however, are achieved in the setting of early presentation, bilateral infantile cataracts, absence of nystagmus or strabismus, and consistent amblyopia therapy. While intraocular lenses for infants less than 6 months can result in good visual outcomes, contact lenses may be preferred in situations in which they are available and practical. Many studies have demonstrated the benefits of early surgery for infantile cataract. We must strive for the continued evolution of technologies and strategies that have the potential to further improve these outcomes.
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Congenital/childhood cataract is an important cause of lifelong visual impairment. It occasionally arises from trauma, maternal infection, and intrauterine exposure to drugs or radiation. Most cases however have a strong genetic basis and over 100 genes have been associated with cataract formation. A key initial aim of clinicians managing children with cataracts is to determine the precise underlying cause of lens opacification (including distinguishing non-syndromic from syndromic forms). Genomic analysis such as gene panel testing can be particularly helpful, especially in children with bilateral cataracts. In this group of patients, genetic testing can streamline care pathways, inform genetic counselling and facilitate early and more precise interventions. Cataracts caused by genetic abnormalities can be broken down into three main categories:
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  Cataract associated with multisystemic disorders: lens opacities combined with various metabolic and syndromic disorders; these can be inherited as X-linked (e.g. oculo facio cardio dental syndrome), autosomal recessive (e.g. Warburg Micro syndrome) or autosomal dominant (e.g. Stickler syndrome) traits.
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Nous avons colligé 82 dossiers. Le sex-ratio était de 1,56. La tranche d’âge la plus représentée était celle de 0–4 ans avec 42,5 % (34), et un âge moyen de 6,6 ans (1 jour–15 ans). Les principaux motifs de consultation étaient la baisse d’acuité visuelle avec 46,3 % (n = 37) et la leucocorie avec 37,5 % (n = 30). Les cataractes étaient unilatérales dans 72 % (n = 59) des cas. La plupart des cataractes évoluaient depuis la naissance, soit 40,8 %), et les cataractes traumatiques représentaient 27,6 %. Les cataractes blanches totales représentaient 39 % des cas (n = 32), dominées par les étiologies congénitales, soit 41,5 % (n = 34). La chirurgie de la cataracte avait été réalisée dans 33 yeux. La chirurgie de la cataracte par petite incision était la technique la plus utilisée (51,5 %).
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: Manuscript no. 240122.

: Financial support: Augustinus Foundation, Copenhagen, Denmark (grant no.: 1-293); Danish Eye Research Foundation, Copenhagen, Denmark; Einar Willumsen's Memorial Foundation, Brondby, Denmark; Carl and Nicoline Larsen Foundation, Copenhagen, Denmark; Family Hede Nielsen Foundation, Horsens, Denmark; Aase and Ejnar Danielsen Foundation, Lyngby, Denmark (grant no.: 103319); Dagmar Marshall Foundation, Copenhagen, Denmark; and Simon Spies Foundation, Copenhagen, Denmark.

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Original articleA nationwide Danish study of 1027 cases of congenital/infantile cataracts: Etiological and clinical classifications

Objective

Design

Participants

Methods

Main outcome measures

Results

Conclusions

Section snippets

Materials and methods

Ascertainment and validation of cases

Discussion

Ophthalmology

Lancet

Ophthalmology

Am J Ophthalmol

Surv Ophthalmol

Am J Ophthalmol

Blindness in schoolchildren: importance of heredity, congenital cataract, and prematurity

Br J Ophthalmol

Childhood blindness in the Republic of Ireland: a national survey

Br J Ophthalmol

Visual impairment in Swedish childrenIII. Diagnoses

Acta Ophthalmol Scand

Yearly Memorandum from the Danish National Register of the Visually Impaired

Visual impairment in Nordic childrenIII. Diagnoses

Acta Ophthalmol (Copenh)

Congenital cataract: etiology and morphology

J Pediatr Ophthalmol Strabismus

Aetiology of childhood cataract in south India

Br J Ophthalmol

The etiology of congenital cataractsA survey of 386 cases

Can J Ophthalmol

Original article
A nationwide Danish study of 1027 cases of congenital/infantile cataracts: Etiological and clinical classifications