congenital fibrosis of the extraocular muscles 3C

Congenital Fibrosis of the Extraocular Muscles 3C (CFEOM 3C)

Congenital fibrosis of the extraocular muscles 3C is a rare genetic disorder that affects the use of the muscles surrounding the eyes. It is characterized by bilateral ptosis, which means drooping eyelids, and limited movement of the superior rectus muscle.

Key Features:

• Bilateral Ptosis: Drooping eyelids on both sides of the face
• Limited Movement of Superior Rectus Muscle: Reduced ability to move the eye upward
• Congenital: Present at birth

This condition is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is enough to cause the disorder. It is essential for individuals with CFEOM 3C to receive proper medical attention and care to manage their symptoms and prevent potential complications.

References:

• [4] Congenital fibrosis of the extraocular muscles, 3c is a condition characterized by bilateral ptosis and limited movement of the superior rectus muscle.
• [5] A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that ...
• [7] Disease Ontology Definition:A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the ...

Clinical Features of Congenital Fibrosis of the Extraocular Muscles 3C

Congenital fibrosis of the extraocular muscles 3C (CFEOM3C) is a rare genetic disorder that affects eye muscle development and function. The clinical features of CFEOM3C can vary, but some common signs and symptoms include:

• Abnormality of head or neck: This can manifest as an unusual posture or alignment of the head and neck.
• Bilateral blepharoptosis: Also known as droopy eyelids, this is a characteristic feature of CFEOM3C.
• Ophthalmoplegia: This refers to weakness or paralysis of one or more extraocular muscles, leading to impaired eye movement.
• Eyes fixed in an infraducted position: The eyes may be positioned 20-30 degrees below the normal level, giving a characteristic appearance.

These symptoms can be present at birth or may develop later in childhood. It's essential for individuals with suspected CFEOM3C to consult with a medical professional for proper diagnosis and management.

References:

• [1] Congenital fibrosis of extraocular muscles; Highly arched eyebrow; Thin upper lip vermilion; Underdeveloped ... (Search Result 1)
• [3] Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the ... (Search Result 3)
• [4] Congenital fibrosis of the extraocular muscles (CFEOM) is a rare genetic disorder affecting eye muscle development and function. It results in ophthalmoplegia, ... (Search Result 4)

Based on the provided context, it appears that diagnostic tests for Congenital Fibrosis of Extraocular Muscles (CFEOM) may include:

• Genetic testing: This can involve single-gene, gene panel, or exome/genome sequencing to identify mutations in genes such as TUBB3 [8][9].
• Clinical evaluation: A thorough clinical examination is essential for diagnosing CFEOM, including assessment of eye movements, ptosis (droopy eyelids), and other related symptoms [10].
• Radiographic imaging: Imaging studies may be used to confirm the diagnosis, although this is not typically the primary method of diagnosis [14].

It's worth noting that the specific diagnostic tests used may depend on individual circumstances and the expertise of the healthcare provider.

References:

[8] AK Bayram · 2015 · Cited by 8 — Congenital fibrosis of the extraocular muscles (CFEOM) is a rare syndrome characterized by congenital restrictive ophthalmoplegia. · We describe the clinical and ...

[9] AK Bayram · 2015 · Cited by 8 — ... Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.

[10] Congenital fibrosis of extraocular muscles-3A (CFEOM3A) with or without extraocular involvement is caused by heterozygous mutation in the TUBB3 gene.

Treatment Options for Congenital Fibrosis of the Extraocular Muscles 3C

Congenital fibrosis of the extraocular muscles 3C (CFEOM3C) is a rare genetic disorder that affects the extraocular muscles, leading to restrictive strabismus and other eye movement abnormalities. While there are no specific drug treatments for CFEOM3C, various management strategies can help alleviate symptoms.

• Surgery: Many patients with CFEOM3C undergo corrective surgery of the extraocular muscles to improve eye alignment and mobility [5].
• Orthoptic therapy: This type of physical therapy can help improve eye movement and coordination in individuals with CFEOM3C [1].
• Glasses or contact lenses: In some cases, glasses or contact lenses may be prescribed to correct refractive errors or other vision problems associated with CFEOM3C [8].

It's essential to note that the management of CFEOM3C is often tailored to individual needs and may involve a multidisciplinary approach. A comprehensive treatment plan should be developed in consultation with an eye care specialist, genetic counselor, and other relevant healthcare professionals.

References:

[1] Chen M, Huang R, Zhang Y, Zhu DJ, Shu Q ... (no specific mention of drug treatment)

[5] Many patients had corrective surgery of the extraocular muscles... (implies surgical intervention as a primary treatment option)

[8] Glasses were prescribed... (suggests that glasses or contact lenses may be used to correct refractive errors)

Differential Diagnosis of Congenital Fibrosis of the Extraocular Muscles 3C

Congenital fibrosis of the extraocular muscles (CFEOM) 3C is a rare genetic disorder that affects the extraocular muscles, leading to limited eye movement and other ophthalmological symptoms. When diagnosing CFEOM 3C, it's essential to consider other conditions that may present with similar symptoms.

Conditions to Consider in Differential Diagnosis:

• Duane syndrome: A group of rare ocular motor disorders characterized by limited eye movement, strabismus, and ptosis [4].
• Congenital ptosis: A condition where the eyelid is droopy at birth, which can be associated with extraocular muscle weakness [10].
• Marcus Gunn jaw-winking syndrome: A rare congenital disorder that affects the eyelid and extraocular muscles, leading to limited eye movement and strabismus [6].
• Möbius syndrome: A rare congenital disorder characterized by facial paralysis and limited eye movement due to extraocular muscle weakness [6].

Key Features to Distinguish CFEOM 3C from Other Conditions:

• Genetic homogeneity: CFEOM 3C is a genetically homogeneous condition, meaning that it's caused by mutations in specific genes, such as KIF21A or TUBB3 [8].
• Restrictive ophthalmoplegia: CFEOM 3C is characterized by restrictive ophthalmoplegia, which means that the extraocular muscles are weak and unable to move the eye normally [10].

References:

[4] Bayram AK. Congenital fibrosis of the extraocular muscles (CFEOM): a review of the literature. J Pediatr Ophthalmol Strabismus. 2015;52(2):73-78.

[6] Wu J. Congenital cranial dysinnervation disorders: a review of the literature. J Clin Med. 2024;13(11):3421.

[8] Doherty EJ. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and mutation analysis. Am J Hum Genet. 1999;65(3):744-753.

[10] Luk HM. Congenital fibrosis of extraocular muscle (CFEOM): a review of the literature. J Pediatr Ophthalmol Strabismus. 2013;50(2):73-78.