Does Amelogenesis Imperfecta Affect Kidneys and Eyes?
At a Glance
Amelogenesis imperfecta (AI) usually only affects tooth enamel, but rare genetic forms like Enamel-Renal Syndrome and Jalili Syndrome can also impact the kidneys and eyes. Genetic testing is a crucial step to identify these hidden systemic risks and guide proper medical care.
In this answer
3 sections
Most of the time, amelogenesis imperfecta (AI) is an isolated condition, meaning it only affects the development of your tooth enamel [1][2]. However, in rare cases, AI is part of a larger genetic syndrome. Because the same genes that help build tooth enamel are also used by other parts of the body, a mutation in one of these genes can affect multiple organs [1]. The two most significant and well-studied syndromic connections involve the kidneys and the eyes [3][4]. Understanding these connections is important because dental problems might be the first clue to a hidden systemic health risk [1]. It is entirely normal to feel anxious about these possibilities, but remember that these syndromes are very rare.
Enamel-Renal Syndrome and Your Kidneys
Enamel-Renal Syndrome (ERS) is a rare condition where severe enamel defects are accompanied by kidney problems [5][6]. This syndrome is usually caused by a mutation in the FAM20A gene [7][8].
The hallmark feature of ERS in the kidneys is nephrocalcinosis, which is a buildup of calcium deposits within the kidney tissue [9][3]. If left undiagnosed and unmanaged, these calcifications can eventually lead to impaired kidney function or even kidney failure in adulthood [9][10].
If you or your child has AI, especially if it is accompanied by swollen, thick gums (gingival hyperplasia) or teeth that fail to erupt through the gums, a doctor may suspect ERS [3][9]. The management for ERS requires looking beyond the mouth. It typically involves routine renal ultrasounds to check for kidney calcifications and regular blood tests to monitor minerals like phosphate [11][12][10].
Jalili Syndrome and Your Vision
Jalili Syndrome is another extremely rare condition that links AI to an eye disorder called cone-rod dystrophy [13][14]. This syndrome is triggered by mutations in the CNNM4 gene, which plays a role in moving metals (like magnesium) in and out of cells in both the teeth and the eyes [13][15].
Cone-rod dystrophy affects the light-sensitive cells in the retina, leading to progressive vision issues. Symptoms often begin early in life and can include:
- Photophobia: Extreme sensitivity to bright lights [16][15].
- Difficulty distinguishing colors [17].
- A gradual reduction in overall visual sharpness (visual acuity) [16].
Because visual decline can be gradual, anyone diagnosed with Jalili Syndrome needs regular evaluations with an ophthalmologist (eye specialist). They will perform specialized tests, like checking the electrical activity of the retina, to track the disease and help preserve quality of life [17][18].
Why Genetic Testing is Crucial
While some syndromic forms of AI have distinct dental clues (like the thick gums seen in ERS), others can look identical to isolated AI. This means a clinical dental exam alone cannot always rule out hidden risks to your kidneys or eyes [19][20]. This is why genetic testing is a vital step after an AI diagnosis [19].
A genetic test, such as whole-exome sequencing, pinpoints the exact mutated gene causing the enamel defects [21][22]. Usually, this just requires a simple blood draw or saliva swab.
- If a mutation like FAM20A or CNNM4 is found, your medical team will immediately know to screen your kidneys or eyes [5][1].
- It shifts your care plan from just repairing teeth to a coordinated, whole-body approach involving dentists, kidney specialists (nephrologists), and eye specialists [1][23].
- Early molecular diagnosis means proactive surveillance, ensuring that hidden organ risks are managed before they cause irreversible damage [1][24].
Taking the Next Steps
How to get tested: Your dentist typically does not order genetic testing. You will want to ask your primary care doctor or pediatrician for a referral to a genetic counselor. A genetic counselor is a specialist who can order the right tests, help navigate insurance coverage, and explain the results to you and your family.
What to do while you wait: Genetic testing can take weeks or months. Because these syndromes are extremely rare, there is no need to panic while you wait. However, if you are experiencing any vision changes, or simply want peace of mind, it is perfectly reasonable to schedule a baseline comprehensive eye exam and ask your primary care doctor if a baseline kidney ultrasound is appropriate in the meantime.
Common questions in this guide
Can amelogenesis imperfecta cause kidney problems?
How does amelogenesis imperfecta affect the eyes?
Should I get genetic testing if I have amelogenesis imperfecta?
What are the warning signs of Enamel-Renal Syndrome?
Questions to Ask Your Doctor
Curated prompts to bring to your next appointment.
- 1.Who in my care team can refer me to a genetic counselor to order a comprehensive genetic panel for Amelogenesis Imperfecta?
- 2.While we wait for genetic testing results, should we schedule a baseline renal ultrasound or comprehensive eye exam to be safe?
- 3.Are there any routine blood tests, like checking my phosphate or creatinine levels, that we should run now to evaluate my kidney function?
- 4.My teeth are failing to erupt and my gums seem unusually thick. Could these be signs of Enamel-Renal Syndrome?
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References
References (24)
- 1
Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.
Kantaputra P, Guven Y, Aksu B, et al.
Journal of the American Dental Association (1939) 2022; (153(7)):668-676 doi:10.1016/j.adaj.2021.12.009.
PMID: 35260236 - 2
Amelogenesis Imperfecta; Genes, Proteins, and Pathways.
Smith CEL, Poulter JA, Antanaviciute A, et al.
Frontiers in physiology 2017; (8()):435 doi:10.3389/fphys.2017.00435.
PMID: 28694781 - 3
Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature.
Hassib NF, Shoeib MA, ElSadek HA, et al.
European journal of medical genetics 2020; (63(11)):104045 doi:10.1016/j.ejmg.2020.104045.
PMID: 32835847 - 4
ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.
Lian J, Cuk M, Kahlfuss S, et al.
The Journal of allergy and clinical immunology 2018; (142(4)):1297-1310.e11 doi:10.1016/j.jaci.2017.10.031.
PMID: 29155098 - 5
Enamel-Renal-Syndrome: case report.
Torres LHS, de-Azevedo-Vaz SL, Barroso DRC, et al.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2018; (38(3)):172-175 doi:10.1111/scd.12288.
PMID: 29672880 - 6
Association of Amelogenesis Imperfecta and Bartter's Syndrome.
Kumar ACV, Alekya V, Krishna MSVV, et al.
Indian journal of nephrology 2017; (27(5)):399-401 doi:10.4103/ijn.IJN_203_16.
PMID: 28904439 - 7
Enamel Renal Syndrome: A Systematic Review.
Farias MLM, Ornela GO, de Andrade RS, et al.
Indian journal of nephrology 2021; (31(1)):1-8 doi:10.4103/ijn.IJN_27_19.
PMID: 33994680 - 8
Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.
Dourado MR, Dos Santos CRR, Dumitriu S, et al.
European journal of medical genetics 2019; (62(11)):103561 doi:10.1016/j.ejmg.2018.10.013.
PMID: 30394349 - 9
Enamel renal syndrome: A case report with calcifications in pulp, gingivae, dental follicle and kidneys.
Khalifa R, Kammoun R, Mansour L, et al.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2024; (44(3)):722-728 doi:10.1111/scd.12915.
PMID: 37558632 - 10
Enamel Renal Syndrome: A Case History Report.
Costa DC, Dourado MR, Figueiredo de Carvalho MF, et al.
The International journal of prosthodontics 2017; (30(1)):22-24 doi:10.11607/ijp.4916.
PMID: 28085972 - 11
A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis.
Erkapers M, Frykholm C, Furuland H, et al.
Upsala journal of medical sciences 2024; (129()) doi:10.48101/ujms.v129.10228.
PMID: 39376587 - 12
Enamel Renal Syndrome: Protocol for a Scoping Review.
Roomaney IA, Kabbashi S, Chetty M
JMIR research protocols 2021; (10(11)):e29702 doi:10.2196/29702.
PMID: 34851300 - 13
A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.
Rahimi-Aliabadi S, Daftarian N, Ahmadieh H, et al.
Eye (London, England) 2016; (30(11)):1424-1432 doi:10.1038/eye.2016.137.
PMID: 27419834 - 14
Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome.
Li H, Huang Y, Li J, Xie M
Molecular genetics & genomic medicine 2022; (10(3)):e1860 doi:10.1002/mgg3.1860.
PMID: 35150469 - 15
Features, genetics and their correlation in Jalili syndrome: a systematic review.
Daneshmandpour Y, Darvish H, Pashazadeh F, Emamalizadeh B
Journal of medical genetics 2019; (56(6)):358-369 doi:10.1136/jmedgenet-2018-105716.
PMID: 30705057 - 16
Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations.
Hyde RA, Kratunova E, Park JC, McAnany JJ
Ophthalmic genetics 2022; (43(2)):268-276 doi:10.1080/13816810.2021.2002916.
PMID: 34875963 - 17
Hardy-Rand-Rittler colour vision testing in cone and cone-rod dystrophies: correlation with structural and functional outcome measures.
Tharmarajah B, Cornish EE, Nguyen J, et al.
Eye (London, England) 2025; (39(3)):527-532 doi:10.1038/s41433-024-03584-2.
PMID: 39821145 - 18
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.
Hirji N, Bradley PD, Li S, et al.
American journal of ophthalmology 2018; (188()):123-130 doi:10.1016/j.ajo.2018.01.029.
PMID: 29421294 - 19
Molecular-based phenotype variations in amelogenesis imperfecta.
Dong J, Ruan W, Duan X
Oral diseases 2023; (29(6)):2334-2365 doi:10.1111/odi.14599.
PMID: 37154292 - 20
"Isolated" Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case.
Bonnet AL, Sceosole K, Vanderzwalm A, et al.
Case reports in genetics 2020; (2020()):8217919 doi:10.1155/2020/8217919.
PMID: 32832172 - 21
Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta.
Kim YJ, Zhang H, Lee Y, et al.
Journal of personalized medicine 2023; (13(2)) doi:10.3390/jpm13020326.
PMID: 36836560 - 22
Recessive COL17A1 Mutations and a Dominant LAMB3 Mutation Cause Hypoplastic Amelogenesis Imperfecta.
Kim YJ, Lee Y, Chae W, Kim JW
Journal of personalized medicine 2023; (13(10)) doi:10.3390/jpm13101494.
PMID: 37888105 - 23
Timeline of Amelogenesis Imperfecta Management.
Jimenez-Armijo A, Carvajal Monroy PL, Ombashi S, et al.
The Journal of craniofacial surgery 2025; (36(8)):2921-2925 doi:10.1097/SCS.0000000000011344.
PMID: 40905548 - 24
Kohlschütter-Tönz Syndrome: A Rare Clinical Entity with Amelogenesis Imperfecta in Two Siblings, Dental Management and Scoping Review.
Şivet EA, Akbeyaz İH, Berkel G, et al.
Turkish archives of pediatrics 2025; (60(5)):546-551 doi:10.5152/TurkArchPediatr.2025.25085.
PMID: 40960323
This page is for informational purposes only and does not replace professional medical advice. Always consult your doctor or a genetic counselor to determine if genetic testing or organ screening is right for your specific situation.
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