Supporting the LCA community
We see a cure for blindness
Join us for the LCA Family Conference!
June 20-21, 2025 • Embassy Suites, Minneapolis, MN
This conference will provide information about advances in research, deepen your understanding of various stakeholders’ roles in developing treatments, and provide an opportunity for those living with rare inherited retinal disease and those involved in developing treatments to learn from each other.
What is Leber Congenital Amaurosis (LCA)?
LCA is a rare inherited retinal disease characterized by severe vision loss at birth. While some children are born with little or no vision, others may have significant vision loss in the first few years of life, stable vision for a period of time, and then eventually complete vision loss as the retina deteriorates into total blindness.
What We Do
Founded in 2014 as Sofia Sees Hope, Hope in Focus is a nonprofit 501(c)3 patient advocacy organization dedicated to generating awareness, raising funds for research, and providing support, education and outreach to the LCA and rare inherited retinal disease community.
Thank you to these organizations
for their ongoing commitment to Hope in Focus.
Let’s Get Social!
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Sending you lots of love today❤️![]()
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Image description: Orange background with red and pink cluster of hearts on the edge of the image. White text stating "Happy Valentine's Day from all of us at" and below the Hope in Focus logo. ![]()
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#LCA #LeberCongenitalAmaurosis #HopeInFocus #BlindCommunity #LowVision #VisuallyImpaired #Inclusion
27 known mutations cause LCA—let’s take a closer look at them!![]()
LCA represents 5% of all IRDs and occurs in about 1 in 33,000 people. Rare among rare diseases, LCA3 (SPATA7) accounts for fewer than 2 percent of all LCA cases. ![]()
The SPATA7 gene produces a protein that helps build the connecting cilium (CC), a crucial structure in the eye that supports the function of photoreceptor cells. Interestingly, SPATA7 interacts with another key protein called RPGRIP1. This protein is also involved in other forms of LCA (LCA6), highlighting how different genetic mutations can impact the same critical structure in the eye.![]()
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If you’d like to learn more about LCA3 and an individual that has it, you can read Parvi's story through the link: loom.ly/d-GNkaI ![]()
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Do you know anyone with the SPATA7 mutation? We are searching for individuals with LCA3 to help build a supportive community. Connecting with more people living with this mutation will not only raise awareness but also play an important role in advancing research with the hope of one day bringing us closer to clinical trials and potential treatments.![]()
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#LCA #LCA3 #SPATA7 #LeberCongenitalAmaurosis #HopeInFocus #BlindCommunity #LowVision #VisuallyImpaired #Inclusion #HIF