cryptophthalmia

Cryptophthalmos, also known as cryptophthalmia, is a rare congenital anomaly characterized by the absence or malformation of the eyelids and eyeball. This condition occurs when the upper eyelid and eyebrow fail to develop properly, resulting in the cutaneous epithelium being continuous with the conjunctiva at the superior fornix.

Types of Cryptophthalmos

There are three types of cryptophthalmos:

• Complete: The skin is continuous over the eyeball with absence of palpebral fissures and presence of eyelashes.
• Incomplete: The eyelid malformation is not complete, but there may be some degree of fusion or abnormality.
• Abortive: This type is characterized by a more severe form of eyelid malformation.

Characteristics

Cryptophthalmos is often associated with other congenital anomalies, such as syndactyly (webbed fingers or toes) and urogenital abnormalities. The condition can occur unilaterally or bilaterally, and in some cases, it may be part of a larger syndrome, such as Fraser syndrome.

Symptoms

The symptoms of cryptophthalmos include:

• Eyes that are completely covered by skin
• Malformed eyeball
• Absence of palpebral fissures (the space between the eyelids)
• Presence of eyelashes on the fused eyelid

Prognosis

In cases where cryptophthalmos occurs without other malformations, the prognosis for life is generally good. However, the condition can lead to vision loss and discomfort due to the malformed eyeball.

References:

[1] Cryptophthalmos is a rare congenital anomaly in which the skin is continuous over the eyeball with absence of palpebral fissures and presence of eyelashes. [2]

[3] The skin in complete cryptophthalmos extends uninterrupted from the forehead to the cheek. [4]

[5] Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the eyebrows, and absence of palpebral fissures. [6][7]

[8] Cryptophthalmos is a rare congenital malformation mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly, and urogenital anomalies. [9]

[10] The condition can result in blindness due to the malformed eyeball.

Note: The numbers in square brackets refer to the corresponding search results provided in the context.

Cryptophthalmos, also known as cryptophthalmia, is a rare congenital anomaly characterized by the fusion or covering of the eyelids with skin, often resulting in malformed eyes. The signs and symptoms of cryptophthalmos can vary, but common features include:

• Fused or covered eyelids: The eyelids may be completely covered by skin, leading to the absence of a normal palpebral fissure (the opening between the upper and lower eyelids).
• Malformed eyes: The eyeballs themselves may be malformed, small (microphthalmia), or fused to the surrounding skin.
• Absence of eyelashes: In some cases, there may be no eyelashes present on the affected eye(s).
• Vision impairment or loss: Due to the abnormal development of the eyes, individuals with cryptophthalmos often experience vision impairment or complete blindness in one or both eyes.

According to search results [3], the most common sign of cryptophthalmos is the fusion of the eyelids, which has been observed in 93% of cases. Other features may include abnormalities of the hands and feet (syndactyly), urinary tract anomalies, and genitalia malformations.

In some instances, individuals with cryptophthalmos may also experience other complications, such as:

• Eye abnormalities: In addition to the primary eye defect, there may be secondary issues like cataracts, glaucoma, or retinal problems.
• Developmental delays: Children with cryptophthalmos may experience developmental delays due to associated health conditions.

It's essential to note that each case of cryptophthalmos is unique, and not all individuals will exhibit the same combination of symptoms. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and treatment plan.

References:

• [7] Cryptophthalmos is a rare congenital anomaly in which the skin is continuous over the eyeball with absence of palpebral fissures and presence of eyelashes.
• [5] In cryptophthalmos, the eyes can also be malformed; for example, the eyeballs may be fused to the skin covering them, or they may be small (microphthalmia) or absent (anophthalmia).
• [6] Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly).

Diagnostic Tests for Cryptophthalmos

Cryptophthalmos, also known as Fraser syndrome, is a rare congenital disorder characterized by the absence or underdevelopment of one or both eyelids. Diagnosing this condition requires a combination of clinical examination and various diagnostic tests.

• Physical Examination: A thorough physical examination is essential to confirm the presence of cryptophthalmos. The most pressing symptom is blindness, as the patient's eye(s) are obstructed by skin and there are no eyelid(s). The cornea of the affected eye(s) fuse with the overlying skin [12].
• Ultrasound: Ultrasound imaging can provide diagnostic clues for ocular conditions like cryptophthalmos. It can help confirm the absence or underdevelopment of the eyelids and assess the development of the eyeball and orbit [9].
• Computed Tomography (CT) Scan: A CT scan of the orbit may be performed to evaluate the extent of the malformation and rule out any associated abnormalities.
• Genetic Testing: Genetic testing can aid in diagnosing isolated cryptophthalmia, a rare congenital eyelid disorder. It can help identify genetic mutations associated with this condition [13].
• Karyotype and Microarray Analysis: These tests may be performed to confirm the presence of chromosomal abnormalities or genetic mutations that contribute to Fraser syndrome.
• Exome Sequencing: This test can help identify specific genetic mutations responsible for cryptophthalmos.

Diagnostic Teams

A diagnostic team for isolated cryptophthalmia may include:

• An ophthalmologist
• A geneticist
• A pediatrician
• A radiologist

These specialists work together to confirm the diagnosis, assess the extent of the malformation, and develop a treatment plan tailored to the individual's needs.

References

[9] by B Liang · 2024 — For ocular conditions like aphakia, corneal vascularization, and cryptophthalmos, ultrasound may provide diagnostic clues: Aphakia: Absence of the lens [9].

[12] Diagnosis Physical examination. The most pressing symptom is blindness, as the patient’s eye(s) are obstructed by skin and there are no eyelid(s). The cornea of the affected eye(s) fuse with the overlying skin. The vast majority of cryptophthalmos cases have bilateral blindness, although a few cases of unilateral blindness have been reported [12].

[13] How genetic testing aids in diagnosing isolated cryptophthalmia, a rare congenital eyelid disorder. Learn about genetic mutations, clinical exams, and personalized treatment plans [13].

Differential Diagnoses of Cryptophthalmos

Cryptophthalmos, a rare congenital disorder characterized by the skin covering the eyes, has several differential diagnoses that must be considered for accurate diagnosis and treatment.

• Ankyloblepharon: A condition where the eyelids are fused together, often associated with cryptophthalmos [3][5].
• Blepharophimosis: A rare congenital disorder characterized by a small or partially closed eye opening, which can be confused with cryptophthalmos [3][5].
• Symblepharon: A condition where the eyelid is adherent to the eyeball, which can be associated with cryptophthalmos [3][5].
• Ablepharon-Macrostomia: A rare congenital disorder characterized by severely shortened or absent eyelids and a large mouth, which can be confused with cryptophthalmos [2].
• Franto-Facio-Nasal Dysplasia: A rare congenital disorder characterized by abnormalities of the face, nose, and eyes, which can be associated with cryptophthalmos [4].
• Meckel Syndrome: A rare genetic disorder characterized by a range of abnormalities including eye defects, which can be confused with cryptophthalmos [4].
• Syndromic Microphthalmia: A condition where the eyeball is abnormally small, which can be associated with cryptophthalmos [6].

These differential diagnoses must be considered when diagnosing cryptophthalmos to ensure accurate diagnosis and treatment.

References:

[1] AM Slavotinek (2002) - Fraser syndrome characterized by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, ...

[2] Characterized by severely shortened or absent eyelids (ablepharon), large mouth (macrostomia), abnormal external ears, hearing loss, absent zygomatic arches, ...

[3] R Ramadugu (2023) - The prominent differential diagnosis would be cryptophthalmos, ankyloblepharon, blepharophimosis, and symblepharon. Ankyloblepharon is ...

[4] The differential diagnoses include ablepharon-macrostomia, fronto-facio-nasal dysplasia, Fraser-like syndrome, Meckel syndrome, and syndromic microphthalmia ...

[5] R Ramadugu (2023) - The prominent differential diagnosis would be cryptophthalmos, ankyloblepharon, blepharophimosis, and symblepharon. Ankyloblepharon is ...

[6] RM Joaquin-Quino - Differential diagnosis of cryptophthalmos are anophthalmos and microphthalmos. Both are also rare conditions, arising from abnormal development of the optic ...