Jalili syndrome

Jalili Syndrome: A Rare Genetic Disorder

Jalili syndrome is a rare genetic disorder characterized by the combination of cone-rod dystrophy of the retina and amelogenesis imperfecta, which affects the development of teeth.

• Visual Impairment: The condition leads to severe early-onset and progressive cone-rod retinal dystrophy, resulting in significant visual impairment [1][2].
• Retinal Dystrophy: Jalili syndrome is associated with cone-rod dystrophy, a type of retinal degeneration that affects the cone cells responsible for central vision and color perception [3][4].
• Amelogenesis Imperfecta: The condition also involves amelogenesis imperfecta, a disorder affecting tooth development, leading to defective enamel formation [5][6].
• Other Symptoms: Additional symptoms may include photophobia (sensitivity to light), reduced vision, pendular nystagmus (involuntary eye movements), and defective color vision [7][8].

References:

[1] Hirji N. (2018) - Jalili syndrome is characterized by a severe early-onset and progressive CORD, with a poor visual prognosis.

[2] Hirji N. (2018) - We identify that Jalili syndrome is characterized by a severe early-onset and progressive CORD, with a poor visual prognosis.

[3] Gerth-Kahlert C. (2013) - Jalili syndrome, a rare autosomal recessive disorder, is linked to mutations in the CNNM4 gene and can present with bull's eye maculopathy and peripheral retinal degeneration (type A) or minor retinal dystrophy (type B).

[4] Gerth-Kahlert C. (2013) - Jalili syndrome is a rare congenital disorder characterized by photophobia, reduced vision, pendular nystagmus, and defective color vision.

[5] Hirji N. (2018) - We identify that Jalili syndrome is characterized by the combination of cone-rod dystrophy of the retina and amelogenesis imperfecta.

[6] Gerth-Kahlert C. (2013) - Jalili syndrome is a rare autosomal recessive disorder, linked to mutations in the CNNM4 gene and can present with bull's eye maculopathy and peripheral retinal degeneration (type A) or minor retinal dystrophy (type B).

[7] Hirji N. (2018) - We identify that Jalili syndrome is characterized by a severe early-onset and progressive CORD, with a poor visual prognosis.

[8] Gerth-Kahlert C. (2013) - Jalili syndrome is a rare congenital disorder characterized by photophobia, reduced vision, pendular nystagmus, and defective color vision.

Signs and Symptoms of Jalili Syndrome

Jalili syndrome, a rare autosomal recessive disorder, presents with a combination of cone-rod dystrophy and amelogenesis imperfecta. The symptoms typically manifest in early childhood or infancy.

• Visual Impairment: Significant visual impairment is present from infancy or early childhood and progresses with age [1].
• Nystagmus: Nystagmus, an involuntary movement of the eyes, is a common symptom [3][9].
• Photophobia: Photophobia, or sensitivity to light, is another characteristic feature [4][5][9].
• Reduced Visual Acuity: Patients often have poor visual acuity, making it difficult for them to see objects clearly [3][5].
• Color Vision Defects: Absent color vision is a common symptom of Jalili syndrome [3][5].
• Tooth Alterations: Amelogenesis imperfecta, a condition affecting tooth development, leads to various tooth alterations, including yellowish coloration, taurodontism, pitted or grooved enamel [7].

These symptoms can vary in severity and may be accompanied by other ocular and dental abnormalities. Early diagnosis and management are crucial for improving the quality of life for individuals with Jalili syndrome.

References: [1] - Context 1 [3] - Context 3 [4] - Context 4 [5] - Context 5 [7] - Context 7

Diagnostic Tests for Jalili Syndrome

Jalili syndrome, a rare genetic disorder, can be diagnosed through various tests that assess its characteristic features. The diagnostic process typically involves a combination of clinical evaluation, imaging studies, and molecular analysis.

• Clinical Evaluation: A thorough medical history and physical examination are essential in identifying the symptoms associated with Jalili syndrome, such as cone-rod retinal dystrophy and amelogenesis imperfecta (AI) [3].
• Imaging Studies: Spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence imaging (FAF), and color vision tests can help confirm the presence of cone-rod dystrophy, a hallmark of Jalili syndrome [4][7].
• Molecular Analysis: Genetic testing for mutations in the CNNM4 gene is crucial for diagnosing Jalili syndrome. This test can be performed through various methods, including PCR (polymerase chain reaction) and sequencing [5][10].

Recommended Diagnostic Tests

The following tests are recommended for diagnosing Jalili syndrome:

• Spectral-domain optical coherence tomography (SD-OCT): To assess the retinal structure and confirm cone-rod dystrophy.
• Fundus autofluorescence imaging (FAF): To evaluate the retinal pigment epithelium and confirm cone-rod dystrophy.
• Color vision tests: To assess color vision and confirm cone-rod dystrophy.
• Genetic testing for CNNM4 mutations: To diagnose Jalili syndrome through molecular analysis.

References

[3] Hirji, N. (2018). Systematic review of medical records, SD-OCT, FAF, and color vision tests in patients with Jalili syndrome. [Context 7]

[4] Franca, M. (2024). Comprehensive clinical, genetic, imaging, and histopathological analysis of an enucleated eye from a patient with Jalili syndrome. [Context 6]

[5] Development of a diagnostic test for Jalili Syndrome through CNNM4 mutation analysis. [Context 10]

[7] Hirji, N. (2018). Systematic review of medical records, SD-OCT, FAF, and color vision tests in patients with Jalili syndrome. [Context 7]

[10] Development of a diagnostic test for Jalili Syndrome through CNNM4 mutation analysis. [Context 10]

Differential Diagnosis of Jalili Syndrome

Jalili syndrome, a rare genetic disorder, presents a unique combination of cone-rod dystrophy and amelogenesis imperfecta. When diagnosing this condition, it is essential to consider the differential diagnosis, which includes other conditions that may present similar symptoms.

• Other cone-rod dystrophies: Cone-rod dystrophies are a group of inherited retinal degenerations that affect both cones and rods in the retina. Other forms of cone-rod dystrophy, such as cone-rod dystrophy with amelogenesis imperfecta, should be considered in the differential diagnosis.
• Amelogenesis imperfecta: Amelogenesis imperfecta is a genetic disorder affecting tooth enamel development. While it is a primary manifestation of Jalili syndrome, it can also occur independently and should be considered in the differential diagnosis.
• Other lysosomal storage diseases: Lysosomal storage diseases are a group of inherited disorders caused by defects in lysosomal enzymes or proteins. Other lysosomal storage diseases, such as alpha-mannosidosis, may present similar symptoms to Jalili syndrome.

Diagnostic Approach

The diagnosis of Jalili syndrome is primarily based on the combination of cone-rod dystrophy and amelogenesis imperfecta. A comprehensive diagnostic approach should include:

• Clinical evaluation: A thorough clinical examination to assess the presence of cone-rod dystrophy and amelogenesis imperfecta.
• Genetic testing: Genetic testing for mutations in the CNNM4 gene, which is responsible for Jalili syndrome.
• Imaging studies: Imaging studies, such as fundus photography or optical coherence tomography (OCT), may be used to assess retinal changes associated with cone-rod dystrophy.

References

[1] Choi J, Couser N. Vision and enamel anomalies in Jalili syndrome: Case study and genetic insights. [2] Jalili I. More prevalent than previously thought, Jalili syndrome presents a model of the effect of different mutations of the same genetic defect, observations of the... [3] Purwar P. Jalili syndrome (JS) (MIM#217080) is a rare genetic disorder characterized by the comorbid presence of cone-rod dystrophy and amelogenesis imperfecta.