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Congenital Cataract

What is Congenital Cataract ?

Congenital cataracts are the opacification of the ocular lens starting at birth.


Congenital cataracts are the opacification of the ocular lens starting at birth.
Acknowledgement of Congenital Cataract has not been added yet.
Synonyms for Congenital Cataract has not been added yet.
A mutation in the CTDP1 gene causes CCFDN. The CTDP1 gene provides instructions for making a protein called carboxy-terminal domain phosphatase 1. This protein helps regulate the process of transcription, which is a key step in using the information carried by genes to direct the production (synthesis) of proteins. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition ( CCFDN can also occur as part of the following birth defects: Chondrodysplasia syndrome Congenital rubella Conradi syndrome Down syndrome (trisomy 21) Ectodermal dysplasia syndrome Familial congenital cataracts Galactosemia Hallerman-Streiff syndrome Lowe syndrome Marinesco-Sjogren syndrome Pierre-Robin syndrome Trisomy 13 (
The main symptoms of CCFDN are developmental abnormalities, this includes congenital cataracts and microcorneae, primary hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, mild facial dysmorphism and hypogonadism ( Other common symptoms include: Para-infectious rhabdomyolysis Myopathy Nystagmus Strabismus Myopia Abnormal electroretinogram Corneal dystrophy Glaucoma Thrombocytopenia (
The diagnosis is usually done in newborns. The clinical diagnosis is very basic, but definitive diagnosis is molecular, based on homozygosity for the CTDP1 mutation (
Diagnostic tests of Congenital Cataract has not been added yet
Cataract surgery is the main treatment for CCFDN and should be performed when patients are younger than 17 weeks to ensure minimal or no visual deprivation. Most ophthalmologists opt for surgery much earlier. The delay in surgery is because of glaucoma ( Since glaucoma occurs in 10% of congenital cataract surgery, many surgeons delay the cataract surgery. In most (noncongenital) cataract surgeries, an artificial intraocular lens (IOL) is inserted into the eye. The use of IOLs in infants is controversial. Without an IOL, the infant will need to wear a contact lens (
Removing a congenital cataract is usually a safe, effective procedure. The child will need follow-up for vision rehabilitation. Most infants have some level of "lazy eye" (amblyopia) before the surgery and will need to use patching to cover the eye (
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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
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  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit to enroll.

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My name is Kat, and I have x-linked dominant chondrodysplasia punctata. I have never met anyone else with this disorder, and am hoping to connect with another patient. In addition (and partially...

Family member of 2 year old with congenital cataracts.
Hi everyone,



I am 34 year old single dad that has a long line of family history of congenital cataract. As far back as I know it started w/ my father's father's father. I have 2...

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