Congenital cataracts are those present from the moment of birth or early in life. They can be bilateral or unilateral, with a genetic cause or not (congenital infections, trauma, or drugs are also recurrent causes), and they can also be classified as polar, nuclear, or cerulean-type cataracts depending on the presentation of the lens.
The service includes syndromic and non-syndromic entities that associate congenital cataracts as a phenotype.
1.4 – 6.3/100,000 newborns.
It is recommended to integrate the Congenital Cataracts service in the protocol for the etiological characterization of congenital cataracts in non-syndromic children in hospital centers, as it will be the only way to reach the cause of the disease in a non-negligible number of patients. In syndromic patients without a clear etiological cause, this service is the best way to reach a diagnosis because it includes genes related to diseases that are more or less commonly associated with congenital cataracts. If the cataract is one of the few objective clinical signs evidenced in the patient, the Congenital Cataracts panel will foreseeably be the best strategy to reach a diagnosis of the patient since all the diseases of interest have been included (as indicated in the section Technical design) from different databases trying not to exclude any of those associated with this ocular manifestation. By integrating the proposed genes from various databases, we minimize the loss of information caused by working from a single data source.
The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, to the prevention of comorbidities in syndromic patients, or even to achieve cataract reversal through specific dietary treatment in galactosemia type II.
Service indicated as part of the diagnostic algorithm for non-syndromic congenital cataracts, at least once treatable causes and other non-genetic causes have been ruled out by other means. In syndromic patients, it can be a guiding clinical sign to initiate the genetic study, therefore, doing it through this service would be appropriate.
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
Please pack the sample in a way to prevent leakage
4. Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5. Result: the report
Via: e-mail and/or through the customer portal
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Turnaround time (TAT):
Ref. S-202313115
Virtual panel based on whole exome sequencing for the simultaneous analysis of all genes related to syndromic or non-syndromic diseases that may cause congenital cataracts. In syndromic patients, if a diagnosis is not reached using this panel, it is recommended to extend the study to a whole exome directed by phenotype (based on codes from the HPO database) when the global evaluation of the patient has been completed, as well therefore, after the multidisciplinary assessment of the patient. In non-syndromic patients, without a family history, the genetic cause could be considered very unlikely if a negative result was obtained (although the limitations of the technique that can cause false negatives should never be forgotten).
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
Congenital cataracts
