Ophthalmology

More Than the Eyes: Monitoring Your Child's Systemic Health

At a Glance

While Leber Congenital Amaurosis (LCA) primarily causes vision loss, specific genetic mutations like CEP290 and ALMS1 can also affect the kidneys, heart, and brain. Proactive screening ensures early detection and support for your child's overall systemic health.

While Leber Congenital Amaurosis (LCA) is primarily an eye condition, for some children, the genetic change responsible for their vision loss can also affect other parts of the body ^[1]. This happens because many of the genes linked to LCA are involved in building cilia—tiny, hair-like structures that help cells communicate and function in several organs, including the kidneys, heart, and brain ^[2].

Genes with Systemic Links

If your child’s genetic report lists certain genes, their medical team will likely recommend “beyond the eye” screenings.

CEP290 and IQCB1 (NPHP5)

These two genes are the most common links to Senior-Løken Syndrome ^[3]^[4].

Kidney Health: Both are associated with nephronophthisis (pronounced nef-ro-no-thi-sis). This is a slow-progressing kidney condition where the small tubes inside the kidney begin to scar ^[5]. It is often “silent” in early childhood, meaning your child may feel fine even if their kidneys need support ^[6].
Brain and Development: CEP290 is also linked to Joubert Syndrome, which can cause developmental delays, trouble with balance (ataxia), or a specific finding on a brain MRI known as the “molar tooth sign” ^[7]^[8].

ALMS1

Mutations in this gene cause Alström Syndrome, a complex condition that can affect multiple systems over time ^[9].

Heart and Hearing: Along with vision loss, children may be at risk for hearing impairment and cardiomyopathy (a condition where the heart muscle has trouble pumping) ^[10]^[11].
Metabolic Health: This gene is also linked to early-onset obesity and insulin resistance (diabetes) ^[9]^[12].

The Power of Early Screening

Screening is not a sign that something is currently wrong; it is a proactive strategy to keep your child healthy. Because kidney and heart issues can develop slowly, early detection allows doctors to start supportive treatments long before they become serious ^[11]^[13].

Common Screening Steps

Depending on your child’s exact gene, a multidisciplinary team (including a nephrologist, geneticist, and pediatrician) may recommend:

Renal Ultrasound: A painless scan to check the size and structure of the kidneys ^[5].
Blood and Urine Tests: Simple tests to check how well the kidneys are filtering waste (measuring things like BUN and Creatinine) ^[5].
Blood Pressure Monitoring: High blood pressure can be an early sign that the kidneys need help ^[5].
Baseline Heart and Hearing Scans: For children with ALMS1 mutations, an echocardiogram (heart scan) and audiogram (hearing test) are typically recommended annually ^[10]^[11].

Building Your Care Team

If your child has one of these “systemic” genes, they will benefit from a “home base” hospital that offers a multidisciplinary team ^[1]^[14]. This ensures that the kidney doctor (nephrologist) is talking to the eye doctor (ophthalmologist), and they are all coordinating with your child’s pediatrician to monitor their overall growth and development ^[1]. Early, organized care is the best way to manage these risks and ensure your child thrives.

Common questions in this guide

Does Leber Congenital Amaurosis (LCA) affect other parts of the body?

Yes, for some children, the genetic change causing their vision loss can also impact other organs like the kidneys, heart, and brain. This happens because many LCA genes are involved in building cilia, which help cells function throughout the body.

What health issues are linked to the CEP290 gene in LCA?

The CEP290 gene is associated with Senior-Løken Syndrome, which causes slow-progressing kidney scarring called nephronophthisis. It is also linked to Joubert Syndrome, which can lead to developmental delays and balance issues.

How are kidney problems monitored in children with LCA?

A multidisciplinary care team will typically recommend proactive screenings like painless renal ultrasounds, basic blood and urine tests, and regular blood pressure monitoring. These tests help detect kidney changes early so supportive care can begin.

What conditions are caused by ALMS1 gene mutations?

Alström Syndrome is a complex condition caused by mutations in the ALMS1 gene. Along with vision loss, it can cause hearing impairment, heart muscle weakness known as cardiomyopathy, early-onset obesity, and insulin resistance.

What signs of kidney issues should I watch for in my child?

While kidney issues are often silent in early childhood, you should watch for excessive thirst or changes in how much your child urinates. Always report any new symptoms to your child's pediatrician or nephrologist.

Curated prompts to bring to your next appointment.

1.Which specific LCA gene does my child have, and is it known to affect other organs like the kidneys or heart?
2.Should we schedule a baseline renal (kidney) ultrasound and blood work right now?
3.How often should my child see a pediatric nephrologist for long-term monitoring?
4.For children with CEP290 mutations, should we consider a brain MRI to look for signs of Joubert Syndrome?
5.Are there specific signs of kidney issues—like changes in how much my child drinks or pees—that I should be watching for at home?
6.Does our medical center have a multidisciplinary team to coordinate between my child's eye, kidney, and heart specialists?

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References (14)

1
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2
Review of Ocular Manifestations of Joubert Syndrome.
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Genes 2018; (9(12)) doi:10.3390/genes9120605.
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3
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4
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5
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PMID: 33623699
6
When Nonspecific Symptoms Conceal Kidney Disease: A Case Report on Recognizing Juvenile Nephronophthisis in Pediatric Practice.
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Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2026; (40(3)):424-429 doi:10.1016/j.pedhc.2025.08.004.
PMID: 40892003
7
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
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Pediatric neurology 2020; (106()):43-49 doi:10.1016/j.pediatrneurol.2020.01.012.
PMID: 32139166
8
Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.
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The journal of gene medicine 2021; (23(1)):e3279 doi:10.1002/jgm.3279.
PMID: 32989887
9
Supportive care in a patient with Alstrom syndrome with hyperphenylalaninemia and sleep problems.
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Clinical case reports 2023; (11(2)):e6894 doi:10.1002/ccr3.6894.
PMID: 36777792
10
Alström syndrome: A rare cause of dilated cardiomyopathy in five Chinese children.
Qi Y, Lu J, Sun N, et al.
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PMID: 39884403
11
Hearing Loss in Adults With Alström Syndrome-Experience From the UK National Alström Service.
Quoraishi S, Mason G, Geberhiwot T, Dalton CL
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2022; (43(6)):e620-e627 doi:10.1097/MAO.0000000000003553.
PMID: 35761454
12
Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.
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13
Defining renal phenotype in Alström syndrome.
Baig S, Paisey R, Dawson C, et al.
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14
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PMID: 32958032

This page is for informational purposes only and does not replace professional medical advice. Always consult your child's pediatrician and geneticist about their specific risks and screening needs.

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