complete cryptophthalmia

Complete Cryptophthalmos: A Rare Congenital Anomaly

Complete cryptophthalmos is a rare congenital anomaly characterized by the absence of eyelids and the presence of skin that covers the entire eyeball, forehead, and cheek. This condition occurs when the eyelid folds do not develop or fail to separate during embryonic development [1].

Key Features:

• The skin of the forehead is continuous with that of the cheek, covering the entire orbital cavity.
• There is complete absence of eyelids, eyebrows, and eyelashes.
• The eyeball is completely concealed by the skin, which is stretched over the orbital cavity.
• In some cases, the anterior segment of the eye may be replaced by a cystic structure with a white and irregular wall [9].

Prevalence and Inheritance:

Complete cryptophthalmos is an extremely rare condition, with only a few reported cases in medical literature. It is believed to be an autosomal recessive ocular disorder, meaning that it can occur randomly or be inherited from parents who carry the genetic mutation [6].

Clinical Presentation:

The complete form of cryptophthalmos typically presents bilaterally, but there are reports of asymmetric unilateral cases. Individuals with this condition may not have lacrimal glands or tear ducts, and their eyes may appear to be completely hidden by the skin [14].

References:

• [1] Complete Cryptophthalmia. Suggest an update Your message has been sent Your message has not been sent. Please contact an administrator. Comment Form X. ORPHA:98949.
• [6] by R Ramadugu · 2023 — Complete cryptophthalmos is believed as an extremely rare, autosomal recessive ocular disorder.
• [9] by J Pe’er · 1993 · Cited by 9 — In complete cryptophthalmos, the anterior segment of the eye is replaced

Complete Cryptophthalmia: Signs and Symptoms

Complete cryptophthalmia, also known as cryptophthalmos, is a rare congenital condition where the eyes are completely covered by skin. This condition can lead to various signs and symptoms, which can be severe and impact daily life.

• Eyelid abnormalities: The most common sign of complete cryptophthalmia is the absence or fusion of eyelids, resulting in the eyes being completely covered by skin [4].
• Malformed eyeballs: In some cases, the eyeballs may be malformed or fused to the skin covering them, leading to vision impairment or blindness [1].
• Respiratory tract abnormalities: Individuals with complete cryptophthalmia may also experience abnormalities of the respiratory tract, specifically involving the larynx (voice box) [3].
• Vision impairment or loss: The most significant consequence of complete cryptophthalmia is vision impairment or loss due to malformed eyeballs or absence of eyelids.
• Other associated anomalies: In some cases, individuals with complete cryptophthalmia may also experience abnormalities in other parts of the body, such as hands, feet, genitalia, and urinary tract [8].

It's essential to note that complete cryptophthalmia is a rare condition, and its signs and symptoms can vary from person to person. If you suspect someone has this condition, it's crucial to consult with a medical professional for proper diagnosis and treatment.

References: [1] Jun 1, 2014 - 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. [3] Oct 30, 2020 - These include eyes that are completely covered by the skin and usually malformed (cryptophthalmos) causing blindness; fusion of the skin between the eyelids. [4] Sep 25, 2024 - The most common sign is the eyelids, which often fail to form and are fused. This is known as cryptophthalmos and has been observed in 93 cases. [8] by WG Momma · 1977 · Cited by 6 — Eye abnormalities can lead to vision impairment or loss, and individuals may also have abnormalities of the hands, feet, genitalia, and urinary tract.

Diagnostic Tests for Complete Cryptophthalmos

Complete cryptophthalmos, also known as complete eyelid absence, is a rare congenital anomaly where one or both eyes are completely covered by skin. Diagnosing this condition can be challenging, but various tests and examinations can help confirm the diagnosis.

• Prenatal Ultrasound: Prenatal ultrasound can demonstrate characteristic features such as polyhydramnios or oligohydramnios, echogenic lungs, renal abnormalities or agenesis, and other signs that may indicate complete cryptophthalmos [1].
• Karyotype Analysis: Karyotype analysis is a genetic test that examines the number and structure of chromosomes. This test can help identify chromosomal abnormalities associated with Fraser syndrome, which often presents with complete cryptophthalmos [6].
• Microarray and Exome Sequencing: Microarray and exome sequencing are advanced genetic tests that can detect subtle changes in the genome. These tests can help diagnose genetic conditions underlying complete cryptophthalmos, such as Fraser syndrome [3].
• Imaging Studies: Imaging studies like MRI and CT scans can provide detailed images of the eyes and surrounding tissues. These studies can help identify abnormalities, such as an enlarged or bulging globe with anterior cysts, associated with complete cryptophthalmos [9].

References:

[1] - Prenatal ultrasound can demonstrate characteristic features such as polyhydramnios or oligohydramnios, echogenic lungs, renal abnormalities or agenesis, and other signs that may indicate complete cryptophthalmos. [3] - Testing modalities included karyotype, microarray, and exome sequencing. Individuals with complete and partial cryptophthalmos were similarly diagnosed using these tests. [6] - Cryptophthalmos is the most common abnormality in people with Fraser syndrome. Both eyes are usually completely covered by skin, but in some cases, only one eye may be affected. [9] - The child was diagnosed as cryptophthalmos OU. Both MRI and CT scan shows an enlarged, bulging globe with anterior cyst in the right side.

Based on the provided context, it appears that there are limited treatment options available for complete cryptophthalmia, a rare congenital ocular anomaly.

• Surgical intervention: According to search result [12], oculoplastic reconstructive surgery is utilized in a stepwise fashion as one of the only modalities currently known for treatment. The goal of such procedures in complete cryptophthalmos is purely cosmetic, and if possible, improvements in visual function.
• No cure available: Search results [4] and [6] indicate that there is currently no cure for Fraser syndrome, a condition often associated with complete cryptophthalmia. However, surgery may be needed to correct some malformations associated with this disorder, depending on the severity.
• Atropine treatment: Search result [7] mentions atropine as a significant part of treatment, which should be administered as soon as possible. Atropine sulfate is a common antimuscarinic drug used in this context.
• Ganciclovir and valganciclovir: Search result [8] suggests that potentially toxic drugs such as ganciclovir and valganciclovir may provide reduction in hearing loss and improvement in other symptoms associated with Fraser syndrome, but their effectiveness for complete cryptophthalmia is unclear.

It's essential to note that the information provided on this topic is limited, and further research or consultation with a healthcare professional would be necessary to determine the most effective treatment options for individual cases of complete cryptophthalmia.

Differential Diagnosis of Complete Cryptophthalmos

Complete cryptophthalmos, a rare congenital condition characterized by the complete fusion of eyelid folds and occlusion of eye sockets, has several differential diagnoses that must be considered for accurate diagnosis.

• Ankyloblepharon: A condition where the two eyelids are partially or completely fused, often accompanied by normal development of other parts of the eye. [3][11]
• Blepharophimosis: A rare congenital condition characterized by a short and narrow palpebral fissure (the opening between the eyelids). [3][11]
• Symblepharon: A condition where the eyelid is adherent to the eyeball, often resulting in a partial or complete adhesion. [3][11]

These conditions can be distinguished from complete cryptophthalmos by their distinct clinical features and histological characteristics.

Other Considerations

In addition to these differential diagnoses, other congenital conditions such as Fraser syndrome, an autosomal recessive genetic disorder characterized by multiple congenital malformations, including cryptophthalmos,