Paula and Bobby
Parents of Lillie
Cataract 5, Multiple Types; CTRCT5
What is Cataract 5, Multiple Types; CTRCT5?
Cataract 5, Multiple Types; CTRCT5 is a rare disease. It is also known as Cataract - dominant - total (16q22) Cataract - perinuclear Cataract - zonular Cataract, Lamellar Cataract, Marner Type; Cam; Ctm.
Typically , they involve one or more layers or zones of the lens, as a shell of opacity (Amaya et al., 2002). Different layers might have different degrees of opacification and they are composed of minute white dots. They do not involve the embryonic layer, but might involve the fetal nucleus. When the inner fetal nucleus is opacified, there might be a clear lens surrounded by an opacified shell which in turn is surrounded by clear cortex. The clear cortex may contain opacities referred to as riders or cortical spokes. The density of the opacification might increase over time.
Three families were studied by Ionides et al., (1999) and previously a large pedigree by Nettleship (1909). Nettleship describes one of the family as follows " small dense lamellar cataracts with a few spokes; the 'shell' which entirely stops light from mirror, is scarcely larger than the 4mm pupil". Many had a "sharply defined white Y-shaped opacity at the anterior pole". Not all cases are genetic, and they have been described in local eye disease and after trauma (Law, 1932). In the first half of the 20th century it was frequently associated with hypocalcemia and rickets and the frequency has declined from 38% to 10% (data from de Gottrau et al., 1993).
NB - See 'cataract - zonular pulverulent' - for the mapping of a type of lamellar cataract.
NB - See 'cataract - zonular and sutural' for a family with AD lamellar cataracts and a CRYBA1/3 mutation on 17p12-q11
NB - See 'cataract - posterior pole', for a large Chinese family (Liu et al., 2006) with a CRYAB mutation
Mutations in CRYAA can also cause lamellar cataracts (Laurie et al., 2013).
* This information is courtesy of the L M D.
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What gene changes cause Cataract 5, Multiple Types; CTRCT5?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
Environment - Environmental causes, or exposure to external environmental factors, can sometimes contribute to the cause of a rare disease.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 116800 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
HSF4 - 16q22.1
What are the main symptoms of Cataract 5, Multiple Types; CTRCT5?
The typical symptoms of the syndrome are:
Pulverulent cataract, Zonular cataract, Autosomal dominant inheritance, Nuclear cataract, Anterior polar cataract, Abnormality of finger, Lamellar cataract
How does someone get tested for Cataract 5, Multiple Types; CTRCT5?
The initial testing for Cataract 5, Multiple Types; CTRCT5 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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