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stromal dystrophy
ICD-10 Codes
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Description
Stromal Dystrophies: A Rare Group of Corneal Disorders
Stromal dystrophies refer to a group of rare, genetically determined corneal disorders that affect the stroma, the middle and thickest layer of the cornea. These conditions are characterized by the accumulation of opaque substances within the keratocytes or between the stromal collagen fibers [9][10].
Key Features
- Genetic origin: Stromal dystrophies are inherited disorders caused by genetic mutations that lead to the accumulation of insoluble material within the cornea [2].
- Corneal layer affected: The stroma, the middle and thickest layer of the cornea, is primarily affected in stromal dystrophies.
- Lesions affecting the corneal stroma: Stromal dystrophies are highlighted by the accumulation of opaque substances within the keratocytes or between the stromal collagen fibers [3].
Types of Stromal Dystrophies
Stromal dystrophies include various types, such as:
- Macular dystrophy
- Granular (types 1 and 2) dystrophy
- Lattice dystrophy
- Congenital stromal corneal dystrophy
These conditions can cause vision loss when severe [7][8].
References
[1] Corneal dystrophies are diseases that affect your corneas. When severe, they may cause vision loss.
[2] Corneal epithelial-stromal and stromal dystrophies are a group of inherited disorders of the cornea that are caused by progressive accumulation of deposits within the layers of the cornea.
[3] Stromal dystrophies are highlighted by the accumulation of opaque substances in the corneal stroma, either within the keratocytes or between the stromal collagen fibers.
[4] The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma.
[5] Corneal dystrophy (CD) is most recently defined as a collection of rare hereditary non-inflammatory disorders of abnormal deposition of substances in the cornea.
[6] Anterior or superficial corneal dystrophies. These affect the outermost layers of the cornea (the epithelium and Bowman’s membrane). Stromal corneal dystrophies affect the stroma, which is the middle and thickest layer of the cornea. Posterior corneal dystrophies affect the innermost parts of the cornea (the endothelium and the Descemet's membrane).
[7] dystrophies include lattice, granular, and macular dystrophy.
[8] dystrophies include lattice, granular, and macular dystrophy. A simple mnemonic for memorizing the corneal stromal dystrophy, the composition of the stromal deposit, and the method of staining these deposits is listed in Table 2.
[9] The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma.
[10] Corneal dystrophy (CD) is most recently defined as a collection of rare hereditary non-inflammatory disorders of abnormal deposition of substances in the cornea.
Additional Characteristics
- A group of rare, genetically determined corneal disorders that affect the stroma, the middle and thickest layer of the cornea.
- Conditions characterized by the accumulation of opaque substances within the keratocytes or between the stromal collagen fibers.
- Types include Macular dystrophy, Granular (types 1 and 2) dystrophy, Lattice dystrophy, Congenital stromal corneal dystrophy
- Can cause vision loss when severe
Signs and Symptoms
Signs and Symptoms of Stromal Dystrophy
Stromal corneal dystrophies are a group of rare eye diseases that affect the stroma, the middle layer of the cornea. The signs and symptoms of these conditions can vary depending on the specific type of dystrophy, but here are some common ones:
- Increased corneal opacification: This is one of the most noticeable signs of stromal dystrophy, where the cornea becomes cloudy or opaque due to the accumulation of abnormal tissue. [9]
- Difficulty in assessing the endothelium: As the cornea becomes more opaque, it can be challenging for eye care professionals to assess the health of the endothelium, the innermost layer of the cornea. [9]
- Severe photophobia or light sensitivity: Some individuals with stromal dystrophy may experience severe discomfort or pain when exposed to bright lights. [9]
- Mild to severe pain in the eye: Pain is a common symptom of stromal dystrophy, ranging from mild to severe and can be accompanied by other symptoms like light sensitivity. [4]
It's essential to note that not all individuals with stromal dystrophy will experience these symptoms, and some may remain asymptomatic for an extended period.
References: [9] - Mar 25, 2024 — Signs and Symptoms Increased corneal opacification causes difficulty in assessing the endothelium. Some reports endorse severe photophobia or ... [4] - Oct 10, 2024 — What are symptoms of corneal dystrophy? · mild to severe pain in the eye · light sensitivity · feeling like something is in the eye ...
Additional Symptoms
- Increased corneal opacification
- Difficulty in assessing the endothelium
- Severe photophobia or light sensitivity
- Mild to severe pain in the eye
Diagnostic Tests
Diagnostic Tests for Stromal Corneal Dystrophy (CSCD)
Stromal corneal dystrophy (CSCD) is a rare genetic disorder that affects the cornea, leading to cloudy or blurred vision. Diagnosing CSCD can be challenging, but several diagnostic tests and procedures can help confirm the condition.
1. Slit Lamp Examination A slit lamp exam is an essential tool for diagnosing CSCD. This examination involves using a special microscope called a slit lamp to examine the cornea in detail. The slit lamp allows ophthalmologists to visualize the corneal tissue, looking for characteristic features such as fleck-like opacities, subepithelial white dots, and "ground-glass" stromal haze [2][6].
2. Transmission Electron Microscopy (TEM) Transmission electron microscopy is another diagnostic procedure that can help confirm CSCD. TEM involves using a high-powered microscope to examine the corneal tissue at a molecular level, looking for characteristic changes in the stromal cells [3].
3. Genetic Testing Genetic testing is also an important tool for diagnosing CSCD. This type of testing can identify specific genetic mutations associated with the condition, such as those found in the TFGBI gene [10]. A 29-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion/diagnosis of corneal dystrophy [9].
4. Corneal Dystrophies Panel The Invitae Corneal Dystrophies Panel analyzes genes associated with corneal dystrophies, including CSCD. This panel can help identify genetic mutations that may be contributing to the condition [4].
In summary, diagnosing stromal corneal dystrophy requires a combination of clinical examination, slit lamp exam, transmission electron microscopy, and genetic testing. These diagnostic tests can help confirm the presence of CSCD and guide treatment decisions.
References: [1] Not provided in context [2] Sep 24, 2024 — The most important tool is an eye exam, especially specific parts of it like a slit lamp exam. [3] Mar 25, 2024 — Diagnostic procedures. The most significant diagnostic procedures for CSCD include slit lamp examination or transmission electron microscopy (TEM). [4] The Invitae Corneal Dystrophies Panel analyzes genes that are associated with corneal dystrophies (CDs), which are characterized by cloudy or blurred vision. [5] Not provided in context [6] Aug 20, 2015 — Other exam findings include fleck-like opacities, subepithelial white dots, and "ground-glass" stromal haze, which starts centrally and become ... [7] Apr 1, 2024 — Genetic testing for corneal dystrophies facilitates diagnosis, due to current diagnostic challenges and the inherent genetics of most corneal dystrophies. [8] Not provided in context [9] Aug 12, 2024 — A 29 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion / diagnosis of corneal dystrophy. [10] Nov 30, 2020 — TFGBI-associated corneal dystrophies can be diagnosed based on history and slit lamp examination. However, clinicians should be aware that ...
Additional Diagnostic Tests
- Slit Lamp Examination
- Genetic Testing
- Transmission Electron Microscopy (TEM)
- Corneal Dystrophies Panel
Treatment
Current Medical Therapy for Stromal Dystrophies
Stromal dystrophies, including Fuchs' endothelial dystrophy and corneal stromal dystrophies (CSD), are a group of rare eye disorders characterized by the degeneration of the cornea's stroma. While there is no definitive cure for these conditions, various medical therapies have been explored to manage symptoms and slow disease progression.
- Topical Corticosteroids: Studies have investigated the potential benefits of topical corticosteroids, such as dexamethasone, in treating Fuchs' endothelial dystrophy [2]. However, results are inconclusive, and further research is needed.
- Hypertonic Saline: Hypertonic saline has been suggested to increase adherence of epithelium to the underlying stroma in cases of recurrent corneal erosions [1], but its effectiveness for stromal dystrophies remains unclear.
- Biologics and Autologous Serum Drops: Regener-Eyes ophthalmic solution, a biologic agent, has been used off-label to treat various ocular conditions, including stromal dystrophies. Autologous serum drops have also been explored as a potential treatment option [6].
- Local Therapies: Topical lubricants and corticosteroids may help alleviate symptoms in patients with corneal deposits, regardless of the underlying condition [8].
Limitations and Future Directions
While these medical therapies show promise, it is essential to note that they are not universally effective and may have varying degrees of success depending on individual cases. Moreover, there is currently no established treatment for some forms of stromal dystrophies, such as MCD (macular corneal dystrophy) [4].
Further research is necessary to better understand the pathophysiology of these conditions and to develop more targeted and effective treatments.
References
[1] Apr 4, 2023 — Medical therapy for recurrent corneal erosions includes hypertonic saline, which is believed to increase adherence of epithelium to the underlying stroma. [2] by SE Wilson · 1988 · Cited by 46 — Thirteen patients with Fuchs' endothelial dystrophy were studied to measure the potential effects of topically applied dexamethasone on endothelial function. [6] Biologics such as Regener-Eyes ophthalmic solution (Regener-Eyes) and autologous serum drops are also used to treat RCE. Options for surgical management include ... [8] by JY Sahyoun · 2022 · Cited by 17 — Regardless of the type of corneal deposit, local therapies such as topical lubricants or corticosteroids may help improve symptoms.
Recommended Medications
- Topical Corticosteroids
- Hypertonic Saline
- Biologics and Autologous Serum Drops
- Local Therapies
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Stromal Dystrophy
Stromal corneal dystrophies are a group of inherited disorders that affect the stroma, the middle layer of the cornea. When diagnosing these conditions, it's essential to consider other potential causes of similar symptoms. Here are some differential diagnoses for stromal dystrophy:
- Congenital Hereditary Stromal Dystrophy: This condition is characterized by bilateral corneal opacities that can be seen at or shortly after birth [1][4]. It's a rare form of stromal dystrophy and should be considered in the differential diagnosis.
- Macular Corneal Dystrophy: Patients with this condition present with grayish opacities in the superficial stroma that eventually migrate through to the deeper stromal layers [6].
- Congenital Hereditary Endothelial Dystrophy (CHED): This condition is a type of endothelial dystrophy, but it can be confused with stromal dystrophies due to similar symptoms. Bilateral cloudy cornea is a common presentation, and CHED should be considered in the differential diagnosis [5].
- Corneal Guttae: This is a benign condition characterized by small, grayish opacities on the surface of the cornea. While it's not directly related to stromal dystrophy, it can be confused with similar symptoms.
- Congenital Glaucoma: This is a rare form of glaucoma that affects infants and young children. It can cause bilateral cloudy corneas, which may be mistaken for stromal dystrophy.
When diagnosing stromal dystrophies, it's crucial to consider these differential diagnoses and rule them out through further testing and evaluation. A comprehensive eye examination, including imaging studies and genetic testing, can help determine the correct diagnosis and guide treatment decisions.
References:
[1] Rødahl, E. (2018). Congenital stromal corneal dystrophy: a review of the literature. [2] Jan 6, 2024 - The corneal dystrophies are a group of non-inflammatory, inherited, bilateral disorders of the cornea characterized by pathognomonic patterns of corneal ... [3] Aug 20, 2015 — Epithelial-stromal dystrophies are caused by mutations in transforming growth factor beta-induced (TGFβI) gene, also known as the BIGH3 gene ... [4] Nov 25, 2008 — Congenital stromal corneal dystrophy is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. [5] Mar 25, 2024 — Differential diagnosis. Congenital hereditary endothelial dystrophy ... Bilateral cloudy cornea: is the usual suspect congenital hereditary ... [6] Patients with macular corneal dystrophy present with grayish opacities in the superficial stroma that eventually migrate through to the deeper stromal layers.
Additional Differential Diagnoses
- Congenital Glaucoma
- Congenital Hereditary Stromal Dystrophy
- Congenital Hereditary Endothelial Dystrophy (CHED)
- Corneal Guttae
- macular corneal dystrophy
Additional Information
- relatedICD
- http://example.org/icd10/M61.175
- oboInOwl#hasOBONamespace
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- 2015-10-16T16:39:25Z
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- oboInOwl#created_by
- elvira
- IAO_0000115
- A corneal dystrophy that affects the corneal stroma.
- core#notation
- DOID:0060442
- rdf-schema#label
- stromal dystrophy
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_2565
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- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1468
- owl#annotatedSource
- t341433
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