Paula and Bobby
Parents of Lillie
What is Cataract-Microcornea syndrome?
Cataract-Microcornea syndrome is a rare disease. It is also known as Cataract - jellyfish-like CCMC Microcornea-cataract (autosomal dominant).
A large Sicilian family (Mollica et al., 1985) had individuals in five generations affected with congenital cataracts, microcornea and myopia in various combinations. The cataracts were bilateral and progressive, and the myopia was partially corrected by the removal of the lens. The older patients had secondary retinal changes due to the myopia.
Bleik et al., (1992) reported a mother and son with cataracts, microcornea, and posterior lenticonus. The mother was very myopic and developed glaucoma in the right eye.
Stefaniak et al., (1995) reported fourteen patients in four generations of a pedigree and provided a good review of the literature. They suggest that the syndrome should be called microcornea-cataract because some individuals may just have microcornea without the cataract.
Ionides et al., (1996) provide a good review of the genetic aspects of autosomal dominant cataracts.
An Indian family with early-onset fan-shaped catarcts was reported by Vanita et al., (2006). The opacities varied in shape and included triangular, round or oval. All affected persons had microcornea. Note that CRYAA mutations have been found in other families - see under 'cataract - zonular, nuclear' (In GENEEYE). Another Indian family was found to have a GJA8 (connexin50) mutation. Affected members had microcornea and variable myopia. A familly reported by Willoughby et al., (2005) had congenital cataracts and microcornea. A CRYBB1 mutation in exon 6 was found. One of the family members had a single iridolenticular strand in each eye suggesting a mild anterior segment dysgenesis. Ten Danish families were looked at by Hansen et al., (2007). They found 5 novel mutations, 3 in CRYAA, 1 in GJA8 and 1 in CRYGD.
MAF mutations are another cause of CCMC - see under ' MAF associated eye abnormalities'. Mutations in CRYBA4 in a father and son with microcornea-cataract were reported by Zhou et al., (2010).
The family originally reported by Green et al., (1986) has now been found to have a FOXE3 mutation (Doucette et al., 2011). A Chinese family reported by Wang et al., (2011) had a CRYBB1 mutation, and a large Chinese family (Wang et al., 2012) had a variable cataract (dot-like, punctate, dense nuclear). A number of cases, both sporadic and familial have been found to have ABCA3 mutations (Chen et al., 2014).
* This information is courtesy of the L M D.
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What gene changes cause Cataract-Microcornea syndrome?
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.
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 - 116200 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
GJA8 - 1q21.2
What are the main symptoms of Cataract-Microcornea syndrome?
The typical symptoms of the syndrome are:
How does someone get tested for Cataract-Microcornea syndrome?
The initial testing for Cataract-Microcornea syndrome 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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