Punctal Atresia (Congenital Punctal Agenesis)

Key points at a glance

Key Points

• Punctal atresia is a congenital absence of the lacrimal punctum.
• Epiphora is the main symptom; without infection, discharge is not observed.
• Approximately 43% of cases have systemic abnormalities or hereditary syndromes.
• The most closely related systemic diseases are ectodermal dysplasia and Down syndrome.
• Severe cases often involve extensive obstruction of the lacrimal canaliculi.
• If asymptomatic, observation is possible, but surgical treatment may be required for a cure.
• The surgical procedure is selected based on the level of obstruction and the condition of the lacrimal canaliculi.

1. What is punctal atresia

Punctal atresia is a condition in which the lacrimal punctum is congenitally absent. It is also called punctal agenesis (PA). It involves congenital absence of one or more upper and lower puncta, and although less common than punctal occlusion (membranous closure), it is a condition occasionally encountered in clinical practice.

The lacrimal punctum opens at 6 months of gestation and becomes patent to the inferior nasal meatus at birth. Canalization of the ectodermal lacrimal drainage system begins at 12 weeks of gestation and progresses outward until the seventh month, when the punctum opens at the apex of the eyelid margin. Canalization starts from the lacrimal sac and proceeds proximally toward the canaliculi and distally toward the nasal cavity. The development of the punctum and canalicular walls is closely related to the development of the first and second branchial arches in the nasomaxillary region.

Unlike simple membranous closure, severe punctal atresia often involves extensive obstruction of the horizontal and vertical canaliculi. Therefore, the choice of treatment depends largely on the condition of the canaliculi.

Q What is the difference between punctal atresia and punctal stenosis?

A

Punctal atresia is a congenital condition in which the punctum itself is absent. Punctal stenosis refers to a narrowing of the punctum due to acquired causes such as infection, trauma, inflammation, tumor, or medication effects. Differentiation is made through detailed history taking and review of medications used.

2. Main symptoms and clinical findings

Subjective symptoms

• Epiphora: The most common symptom. Because there is no punctum, tear drainage is impaired.
• Discharge: Not present unless there is infection. It is more likely to occur when the proximal canaliculus is involved than when both upper and lower puncta and canaliculi are absent.
• Redness and pain: Seen when dacryocystitis or lacrimal sac swelling is present.
• Asymptomatic cases: Even in eyes without a punctum, there may be occasional tearing or no tearing at all. Unlike congenital nasolacrimal duct obstruction, discharge is typically absent, which may delay the initial consultation.

Clinical Findings

• Slit-lamp microscopy findings: No punctal papilla or dimple is observed at the site where the lacrimal punctum should be present. Rarely, eyelashes may be seen medial to the normal punctum position.
• Loss of the kissing phenomenon: Normally, the upper and lower puncta meet during blinking (kissing phenomenon). If kissing does not occur due to punctal abnormality, tear absorption decreases.
• Examination of the lacrimal punctum: The punctum is often overlooked during examination, but it provides a wealth of information. In particular, always check for the presence of the punctum in patients with epiphora and in children.

Complications associated with punctal atresia include dacryocystitis, dacryocele, lacrimal fistula, and lacrimal mucocele.

Associated ocular findings include lacrimal caruncle defect, nasolacrimal duct obstruction, canalicular cyst, eyelid skin tag, distichiasis, exotropia, refractive error, ptosis, entropion, blepharitis, epicanthal fold, amblyopia, and nystagmus.

3. Causes and Risk Factors

The etiology of punctal atresia is broadly classified into sporadic and hereditary types.

• Sporadic: This is the most common etiology. It may occur alone or in association with ophthalmic and systemic syndromes.
• Inherited: Autosomal dominant inheritance with variable expressivity and penetrance has been reported.

Disorders of craniofacial development, particularly in the nasomaxillary region, are associated with lacrimal tissue hypoplasia and other ophthalmic defects. Approximately 43% of patients with punctal atresia have systemic abnormalities or genetic syndromes, the most common being ectodermal dysplasia and Down syndrome. It is also frequently associated with Treacher Collins syndrome and Nager syndrome, which involve mandibular and maxillary hypoplasia.

The main syndromes reported in association with punctal atresia are listed below.

Classification	Main syndromes
Ectodermal dysplasia	EEC syndrome, AEC syndrome, Rapp-Hodgkin syndrome, ADULT syndrome, ALSG syndrome
Chromosomal abnormalities	Down syndrome, 22q11.2 deletion syndrome, 1q21.1 microdeletion syndrome
Other	LADD syndrome, Treacher Collins syndrome, CHARGE syndrome, Apert syndrome

Associations with Cornelia de Lange syndrome, Möbius syndrome, branchio-oto-renal syndrome, neurofibromatosis type 1, limb-mammary syndrome, congenital anophthalmia-microphthalmia syndrome, Johanson-Blizzard syndrome, and Pashayan syndrome have also been reported.

About genetic counseling

Lacrimal punctal atresia can be an ocular marker for potential systemic syndromes. If lacrimal punctal atresia is found, consult a pediatrician to check for systemic abnormalities.

Q Is lacrimal punctal atresia hereditary?

A

Autosomal dominant inheritance has been reported. Systemic abnormalities or hereditary syndromes are observed in approximately 43% of cases. Genetic counseling is useful if there is a family history.

4. Diagnosis and Examination Methods

Punctal atresia is a clinical diagnosis that requires a detailed medical history and careful examination.

• Slit-lamp microscopy: Confirms the absence of lacrimal papillae or depressions at the site where the punctum should be present. If the lacrimal papilla is absent, it may indicate associated canalicular agenesis, requiring attention.
• Lacrimal irrigation test: Inject saline through the punctum to check for outflow into the nasal cavity. If the punctum is absent, the test cannot be performed; however, if one punctum is present, evaluation can be done from that side.
• Dacryocystography: Visualizes the anatomical details of the lacrimal drainage system. Contrast medium is injected through either the upper or lower punctum, and images are taken.
• Lacrimal endoscopy: Allows direct observation of the lacrimal duct lumen and accurate diagnosis of the obstruction site.
• Dye disappearance test: The tear film is stained with fluorescein, and the residual dye is observed after 5–10 minutes. Residual dye indicates impaired tear drainage function.

The main differential diagnoses are shown below.

Differential diagnosis	Key points for differentiation
Punctal stenosis	Acquired. History of medication or inflammation.
Nasolacrimal duct obstruction	Main symptom is mucoid discharge
Dry eye	Reflex tearing. Decreased tear secretion
Lacrimal canalicular obstruction	Causes: infection, trauma, medication

At birth, about half of infants have membranous closure of the lacrimal punctum, which usually opens spontaneously. This transient membranous closure must be distinguished from congenital lacrimal punctum agenesis.

5. Standard treatment

Treatment of punctal occlusion is broadly divided into medical and surgical therapy. Asymptomatic patients without epiphora or infection can be observed, and antibiotic eye drops are unnecessary. When epiphora is the only symptom, infection does not occur even if left untreated, so the decision to perform surgery should be made very cautiously.

Medical Treatment

• Management of complications: Patients with dacryocystitis, lacrimal sac distension, or mucocele may require empirical oral antibiotics covering gram-positive bacteria.
• Warm compresses and massage: Effective for decompressing lacrimal sac distension.
• Severe cases: If there is no improvement with oral antibiotics or signs of progression to orbital cellulitis, antibiotics based on culture results or intravenous administration may be necessary.

Surgical Treatment

Surgery is often required to cure punctal atresia. The surgical procedure depends on the extent of obstruction and the condition of the canaliculus.

Membranous obstruction only

Punctal incision and bougienage: Use a punctal dilator or sharp blade to incise the membranous tissue and create a passage into the canalicular system.

Punctoplasty: If the lacrimal papilla is visible and its depressed center appears membranous, it can be easily opened by puncturing the center with a sharp-tipped punctal dilator needle. Dilate the punctum with a lacrimal dilator; if there is no distal stenosis, tube placement is unnecessary. If congenital nasolacrimal duct obstruction is also present, perform probing concurrently. Cases requiring sharp instruments such as scalpels or needles are more difficult, and referral to a lacrimal specialist is recommended.

In case of reocclusion: Insert a punctal plug for 2–4 weeks and then remove; if reocclusion occurs, place a silicone tube for 1–2 months.

Canalicular Obstruction Complication

Proximal obstruction: A new lacrimal punctum (neo-punctum) is created by canalicular marsupialization and placement of a Jones tube.

Canalicular stenosis: Canalicular trephination and stent placement are performed. The Mini-Monoka stent is self-retaining and reported to have a high success rate. The stent is usually left in place for 6 to 12 months.

Insufficient canalicular tissue

CDCR: When canalicular tissue is insufficient, conjunctivodacryocystorhinostomy with Jones tube placement is the standard treatment.

Complete punctal agenesis: When all upper and lower puncta are absent, conjunctivodacryocystostomy is the only treatment, but outcomes are poor.

Treatment considerations

In congenital punctal atresia where the lacrimal papilla is not visible, there may be associated lacrimal canalicular hypoplasia. Since the canalicular lumen may not be reached, thorough preoperative evaluation is important. Whether to perform surgery should be carefully considered based on symptom severity and risk of complications.

Q Is surgery always necessary for punctal atresia?

A

Asymptomatic cases without epiphora or infection can be observed. If epiphora is the only symptom, infection does not occur even without treatment. Surgical indications are carefully determined based on symptom severity and patient preference.

Q How is the surgical method for punctal occlusion determined?

A

The surgical procedure varies depending on the extent of obstruction and the condition of the canaliculus. If only membranous occlusion is present, punctoplasty or bougienage is effective, but if canalicular obstruction is also present, stent placement or CDCR is considered. For details, see Surgical Treatment Section.

6. Pathophysiology and Detailed Pathogenesis

The lacrimal system develops from the ectoderm during the embryonic period. Canalization begins around the 12th week of gestation, progressing from the lacrimal sac both proximally (toward the canaliculi) and distally (toward the nasal cavity). By the seventh month, canalization proceeds outward, and the puncta open at the apex of the eyelid margins.

The development of the puncta and canalicular walls is closely related to the development of the first and second branchial arches in the nasomaxillary region. Therefore, craniofacial developmental disorders, especially those affecting the nasomaxillary region, are associated with hypoplasia of the lacrimal drainage tissue. This is considered one of the reasons why punctal atresia frequently coexists with conditions involving mandibular and maxillary hypoplasia, such as Treacher Collins syndrome and Nager syndrome.

The severity of punctal atresia varies along a spectrum. Mild cases involve only membranous closure of the puncta, while severe cases involve extensive obstruction of both the horizontal and vertical canaliculi in addition to the puncta. The degree of canalicular development significantly influences treatment selection and prognosis. In cases where the lacrimal papilla is absent, canalicular hypoplasia is likely, increasing the difficulty of surgical treatment.

References

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