Gelatinous drop-like corneal dystrophy: Difference between revisions
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{{Infobox medical condition | |||
| name = Gelatinous drop-like corneal dystrophy | |||
| image = [[File:Gelatinous_drop-like_corneal_dystrophy_1.JPEG|250px]] | |||
| image_size = 250px | |||
| alt = | |||
| caption = Slit lamp image showing gelatinous drop-like corneal dystrophy | |||
| field = [[Ophthalmology]] | |||
| symptoms = [[Corneal opacities]], [[vision impairment]] | |||
| complications = [[Corneal scarring]], [[vision loss]] | |||
| onset = Usually in [[childhood]] or [[early adulthood]] | |||
| duration = [[Chronic]] | |||
| types = | |||
| causes = [[Genetic mutation]] in the [[TACSTD2]] gene | |||
| risks = | |||
| diagnosis = [[Slit lamp examination]], [[genetic testing]] | |||
| differential = Other [[corneal dystrophies]] | |||
| prevention = | |||
| treatment = [[Corneal transplantation]], [[phototherapeutic keratectomy]] | |||
| medication = | |||
| prognosis = Variable, often progressive | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
{{Short description|A rare form of corneal dystrophy}} | {{Short description|A rare form of corneal dystrophy}} | ||
'''Gelatinous drop-like corneal dystrophy''' (GDLD) is a rare [[corneal dystrophy]] characterized by the accumulation of amyloid deposits in the [[cornea]], leading to progressive vision impairment. This condition is typically inherited in an [[autosomal recessive]] manner and is most commonly observed in certain populations, such as in Japan. | '''Gelatinous drop-like corneal dystrophy''' (GDLD) is a rare [[corneal dystrophy]] characterized by the accumulation of amyloid deposits in the [[cornea]], leading to progressive vision impairment. This condition is typically inherited in an [[autosomal recessive]] manner and is most commonly observed in certain populations, such as in Japan. | ||
==Pathophysiology== | ==Pathophysiology== | ||
GDLD is caused by mutations in the [[TACSTD2]] gene, which encodes a protein involved in cell adhesion and signaling. The mutation leads to the abnormal deposition of amyloid, a proteinaceous material, in the corneal stroma. These deposits appear as gelatinous, drop-like lesions on the corneal surface, which can impair vision by disrupting the normal transparency of the cornea. | GDLD is caused by mutations in the [[TACSTD2]] gene, which encodes a protein involved in cell adhesion and signaling. The mutation leads to the abnormal deposition of amyloid, a proteinaceous material, in the corneal stroma. These deposits appear as gelatinous, drop-like lesions on the corneal surface, which can impair vision by disrupting the normal transparency of the cornea. | ||
==Clinical Presentation== | ==Clinical Presentation== | ||
Patients with GDLD typically present in the first or second decade of life with symptoms of decreased visual acuity, photophobia, and foreign body sensation. The hallmark of the disease is the presence of multiple, elevated, gelatinous lesions on the corneal surface, which can be observed during a slit-lamp examination. | Patients with GDLD typically present in the first or second decade of life with symptoms of decreased visual acuity, photophobia, and foreign body sensation. The hallmark of the disease is the presence of multiple, elevated, gelatinous lesions on the corneal surface, which can be observed during a slit-lamp examination. | ||
==Diagnosis== | ==Diagnosis== | ||
The diagnosis of GDLD is primarily clinical, based on the characteristic appearance of the cornea. However, confirmation can be obtained through genetic testing for mutations in the TACSTD2 gene. Histopathological examination of corneal tissue may reveal amyloid deposits, which can be confirmed using special staining techniques such as Congo red staining. | The diagnosis of GDLD is primarily clinical, based on the characteristic appearance of the cornea. However, confirmation can be obtained through genetic testing for mutations in the TACSTD2 gene. Histopathological examination of corneal tissue may reveal amyloid deposits, which can be confirmed using special staining techniques such as Congo red staining. | ||
==Management== | ==Management== | ||
There is currently no cure for GDLD, and management focuses on alleviating symptoms and preserving vision. Treatment options include: | There is currently no cure for GDLD, and management focuses on alleviating symptoms and preserving vision. Treatment options include: | ||
* '''Contact lenses''': Specially designed contact lenses can help improve vision by providing a smooth refractive surface. | * '''Contact lenses''': Specially designed contact lenses can help improve vision by providing a smooth refractive surface. | ||
* '''Corneal transplantation''': In advanced cases, penetrating keratoplasty or lamellar keratoplasty may be necessary to restore vision. | * '''Corneal transplantation''': In advanced cases, penetrating keratoplasty or lamellar keratoplasty may be necessary to restore vision. | ||
* '''Phototherapeutic keratectomy (PTK)''': This laser procedure can be used to remove superficial corneal lesions and improve vision. | * '''Phototherapeutic keratectomy (PTK)''': This laser procedure can be used to remove superficial corneal lesions and improve vision. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with GDLD varies. While some patients may experience stable vision with minimal intervention, others may require multiple surgical procedures over their lifetime. Early diagnosis and management are crucial to preserving vision and improving quality of life. | The prognosis for individuals with GDLD varies. While some patients may experience stable vision with minimal intervention, others may require multiple surgical procedures over their lifetime. Early diagnosis and management are crucial to preserving vision and improving quality of life. | ||
==See also== | |||
== | |||
* [[Corneal dystrophy]] | * [[Corneal dystrophy]] | ||
* [[Amyloidosis]] | * [[Amyloidosis]] | ||
* [[Autosomal recessive disorder]] | * [[Autosomal recessive disorder]] | ||
[[Category:Corneal dystrophies]] | [[Category:Corneal dystrophies]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Ophthalmology]] | [[Category:Ophthalmology]] | ||
Latest revision as of 02:12, 7 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
| Gelatinous drop-like corneal dystrophy | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Corneal opacities, vision impairment |
| Complications | Corneal scarring, vision loss |
| Onset | Usually in childhood or early adulthood |
| Duration | Chronic |
| Types | |
| Causes | Genetic mutation in the TACSTD2 gene |
| Risks | |
| Diagnosis | Slit lamp examination, genetic testing |
| Differential diagnosis | Other corneal dystrophies |
| Prevention | |
| Treatment | Corneal transplantation, phototherapeutic keratectomy |
| Medication | |
| Prognosis | Variable, often progressive |
| Frequency | Rare |
| Deaths | |
A rare form of corneal dystrophy
Gelatinous drop-like corneal dystrophy (GDLD) is a rare corneal dystrophy characterized by the accumulation of amyloid deposits in the cornea, leading to progressive vision impairment. This condition is typically inherited in an autosomal recessive manner and is most commonly observed in certain populations, such as in Japan.
Pathophysiology[edit]
GDLD is caused by mutations in the TACSTD2 gene, which encodes a protein involved in cell adhesion and signaling. The mutation leads to the abnormal deposition of amyloid, a proteinaceous material, in the corneal stroma. These deposits appear as gelatinous, drop-like lesions on the corneal surface, which can impair vision by disrupting the normal transparency of the cornea.
Clinical Presentation[edit]
Patients with GDLD typically present in the first or second decade of life with symptoms of decreased visual acuity, photophobia, and foreign body sensation. The hallmark of the disease is the presence of multiple, elevated, gelatinous lesions on the corneal surface, which can be observed during a slit-lamp examination.
Diagnosis[edit]
The diagnosis of GDLD is primarily clinical, based on the characteristic appearance of the cornea. However, confirmation can be obtained through genetic testing for mutations in the TACSTD2 gene. Histopathological examination of corneal tissue may reveal amyloid deposits, which can be confirmed using special staining techniques such as Congo red staining.
Management[edit]
There is currently no cure for GDLD, and management focuses on alleviating symptoms and preserving vision. Treatment options include:
- Contact lenses: Specially designed contact lenses can help improve vision by providing a smooth refractive surface.
- Corneal transplantation: In advanced cases, penetrating keratoplasty or lamellar keratoplasty may be necessary to restore vision.
- Phototherapeutic keratectomy (PTK): This laser procedure can be used to remove superficial corneal lesions and improve vision.
Prognosis[edit]
The prognosis for individuals with GDLD varies. While some patients may experience stable vision with minimal intervention, others may require multiple surgical procedures over their lifetime. Early diagnosis and management are crucial to preserving vision and improving quality of life.
