Sclerocornea: Difference between revisions

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'''Sclerocornea''' is a rare, congenital [[anomaly]] that affects the [[cornea]] of the [[eye]]. It is characterized by the partial or complete absence of the corneal limbus, leading to a non-transparent cornea that resembles the [[sclera]], the white part of the eye.  
{{SI}}
 
{{Infobox medical condition
| name = Sclerocornea
| image = [[File:Autosomal_dominant_-_en.svg|thumb|200px]]
| caption = Sclerocornea can be inherited in an [[autosomal dominant]] pattern
| field = [[Ophthalmology]]
| symptoms = [[Corneal opacity]], [[vision impairment]]
| complications = [[Blindness]]
| onset = [[Congenital]]
| duration = Lifelong
| causes = Genetic mutations
| risks = Family history
| diagnosis = [[Clinical examination]], [[genetic testing]]
| differential = [[Corneal dystrophy]], [[Peter's anomaly]]
| treatment = [[Corneal transplant]]
| prognosis = Variable, depending on severity
| frequency = Rare
}}
[[File:Sclera.png|thumb|Sclerocornea]]
[[File:Phenotypic appearance in patients with sclerocornea, aphakia, and microphthalmia.jpg|left|thumb|Sclerocornea]]
[[File:Vertebrate eye development (human eye).jpg|left|thumb|Sclerocornea]]
[[File:Penetrating keratoplasty.jpg|thumb|Sclerocornea]]
[[File:US Navy 040128-N-8861F-001 Hospital Corpsman 2nd Class Jamie Zhunepluas from Queens, N.Y., gets a slit lamp eye exam by Lt. Cmdr. Jacqueline Pierre from Shelbyville, Texas.jpg|left|thumb|Sclerocornea]]
[[File:Congenital eye diseases associated with neural crest defects in the anterior segment.jpg|thumb|Sclerocornea]]
[[File:Figure 4 RAD21 Functions in various cellular processes. .tif|left|thumb|Sclerocornea]]
'''Sclerocornea''' is a rare, congenital [[anomaly]] that affects the [[cornea]] of the [[eye]]. It is characterized by the partial or complete absence of the corneal limbus, leading to a non-transparent cornea that resembles the [[sclera]], the white part of the eye.
== Symptoms and Signs ==
== Symptoms and Signs ==
Patients with sclerocornea often present with [[visual impairment]] or [[blindness]]. The condition may be associated with other ocular and systemic abnormalities, such as [[microphthalmia]], [[aniridia]], and [[Peter's anomaly]].  
Patients with sclerocornea often present with [[visual impairment]] or [[blindness]]. The condition may be associated with other ocular and systemic abnormalities, such as [[microphthalmia]], [[aniridia]], and [[Peter's anomaly]].
 
== Causes ==
== Causes ==
The exact cause of sclerocornea is unknown, but it is thought to be due to a developmental defect during [[embryogenesis]]. It can occur sporadically or be inherited in an [[autosomal dominant]] or [[autosomal recessive]] manner.  
The exact cause of sclerocornea is unknown, but it is thought to be due to a developmental defect during [[embryogenesis]]. It can occur sporadically or be inherited in an [[autosomal dominant]] or [[autosomal recessive]] manner.
 
== Diagnosis ==
== Diagnosis ==
Diagnosis of sclerocornea is primarily based on clinical examination. [[Slit lamp examination]] may reveal a non-transparent cornea with no clear distinction between the cornea and the sclera. Additional tests, such as [[ultrasound biomicroscopy]] and [[optical coherence tomography]], may be used to further assess the structure of the eye.
Diagnosis of sclerocornea is primarily based on clinical examination. [[Slit lamp examination]] may reveal a non-transparent cornea with no clear distinction between the cornea and the sclera. Additional tests, such as [[ultrasound biomicroscopy]] and [[optical coherence tomography]], may be used to further assess the structure of the eye.
== Treatment ==
== Treatment ==
There is currently no cure for sclerocornea. Treatment is aimed at managing the symptoms and preventing complications. This may include the use of [[contact lenses]] or [[corneal transplantation]]. However, the prognosis for visual recovery is generally poor.
There is currently no cure for sclerocornea. Treatment is aimed at managing the symptoms and preventing complications. This may include the use of [[contact lenses]] or [[corneal transplantation]]. However, the prognosis for visual recovery is generally poor.
== See also ==
== See also ==
* [[Corneal dystrophy]]
* [[Corneal dystrophy]]
* [[Corneal ulcer]]
* [[Corneal ulcer]]
* [[Keratoconus]]
* [[Keratoconus]]
[[Category:Eye diseases]]
[[Category:Eye diseases]]
[[Category:Rare diseases]]
[[Category:Rare diseases]]
[[Category:Congenital disorders]]
[[Category:Congenital disorders]]
{{Eye diseases}}
{{Eye diseases}}
{{Rare diseases}}
{{Rare diseases}}
{{Congenital disorders}}
{{Congenital disorders}}
{{stub}}
{{stub}}
<gallery>
File:Autosomal dominant - en.svg|Sclerocornea
File:Sclera.PNG|Sclerocornea
File:Phenotypic appearance in patients with sclerocornea, aphakia, and microphthalmia.jpg|Sclerocornea
File:Vertebrate eye development (human eye).jpg|Sclerocornea
File:Penetrating keratoplasty.JPG|Sclerocornea
File:US Navy 040128-N-8861F-001 Hospital Corpsman 2nd Class Jamie Zhunepluas from Queens, N.Y., gets a slit lamp eye exam by Lt. Cmdr. Jacqueline Pierre from Shelbyville, Texas.jpg|Sclerocornea
File:Congenital eye diseases associated with neural crest defects in the anterior segment.jpg|Sclerocornea
File:Figure 4 RAD21 Functions in various cellular processes. .tif|Sclerocornea
</gallery>

Revision as of 12:25, 14 April 2025

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Sclerocornea
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Corneal opacity, vision impairment
Complications Blindness
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutations
Risks Family history
Diagnosis Clinical examination, genetic testing
Differential diagnosis Corneal dystrophy, Peter's anomaly
Prevention N/A
Treatment Corneal transplant
Medication N/A
Prognosis Variable, depending on severity
Frequency Rare
Deaths N/A


File:Sclera.png
Sclerocornea
Sclerocornea
Sclerocornea
File:Penetrating keratoplasty.jpg
Sclerocornea
Sclerocornea
Sclerocornea
Sclerocornea

Sclerocornea is a rare, congenital anomaly that affects the cornea of the eye. It is characterized by the partial or complete absence of the corneal limbus, leading to a non-transparent cornea that resembles the sclera, the white part of the eye.

Symptoms and Signs

Patients with sclerocornea often present with visual impairment or blindness. The condition may be associated with other ocular and systemic abnormalities, such as microphthalmia, aniridia, and Peter's anomaly.

Causes

The exact cause of sclerocornea is unknown, but it is thought to be due to a developmental defect during embryogenesis. It can occur sporadically or be inherited in an autosomal dominant or autosomal recessive manner.

Diagnosis

Diagnosis of sclerocornea is primarily based on clinical examination. Slit lamp examination may reveal a non-transparent cornea with no clear distinction between the cornea and the sclera. Additional tests, such as ultrasound biomicroscopy and optical coherence tomography, may be used to further assess the structure of the eye.

Treatment

There is currently no cure for sclerocornea. Treatment is aimed at managing the symptoms and preventing complications. This may include the use of contact lenses or corneal transplantation. However, the prognosis for visual recovery is generally poor.

See also




NIH genetic and rare disease info

Sclerocornea is a rare disease.




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