congenital hereditary endothelial dystrophy of cornea

Congenital Hereditary Endothelial Dystrophy (CHED) of Cornea: A Rare Genetic Disorder

CHED is a rare genetic disorder affecting the corneal endothelium, leading to corneal clouding and visual impairment from birth or early childhood [3][6]. It is characterized by bilateral diffuse clouding of both corneas from infancy [4], with symptoms presenting at or soon after birth [6].

Key Features:

• Bilateral diffuse corneal opacifications (ranging from hazy to milky appearance) [6]
• Corneal clouding and visual impairment from birth or early childhood [3][6]
• Progressive cornea clouding and significant visual impairment [5][7]

Causes and Effects:

• Autosomal recessive mutation affecting the corneal endothelium [12]
• Stromal edema and Descemet membrane thickening due to endothelial dysfunction [12]
• Altered morphology of the endothelium and secretion of an abnormal collagenous layer at the Descemet membrane [14]

Summary:

CHED is a rare genetic disorder that affects the corneal endothelium, leading to corneal clouding and visual impairment from birth or early childhood. It is characterized by bilateral diffuse clouding of both corneas and progressive cornea clouding and significant visual impairment.

References: [3] - Congenital hereditary endothelial dystrophy (CHED) is a rare genetic corneal disorder causing progressive cornea clouding and significant visual impairment. [6] - Presents at or soon after birth · Bilateral diffuse corneal opacifications (ranging from hazy to milky appearance) [12] - Congenital hereditary endothelial dystrophy (CHED) presents as bilateral corneal opacification present at birth or in the immediate newborn period and is due to an autosomal recessive mutation affecting the corneal endothelium. [14] - Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane (summary by Vithana et al., 2006).

Corneal Clouding and Visual Impairment

Congenital Hereditary Endothelial Dystrophy (CHED) is a rare genetic disorder affecting the corneal endothelium, leading to corneal clouding and visual impairment from birth or early childhood. The signs and symptoms of CHED include:

• Corneal Clouding: A range of corneal clouding can occur in CHED, from a mild haze to a ground glass, milky appearance [1]. This clouding can lead to amblyopia.
• Visual Impairment: Corneal dystrophies often cause at least some vision loss. However, it's rare for that vision loss to turn into total blindness [2].
• Corneal Swelling (Edema): The autosomal dominant form of CHED is characterized by swelling (edema) of the cornea, pain, and corneas that are clear at birth but become cloudy during childhood [3].

Other Symptoms

In addition to corneal clouding and visual impairment, patients with CHED may also experience:

• Corneal Disorganization: The corneal stroma becomes severely disorganised; the lamellar arrangement of the fibrils becomes disrupted [7].
• Blurred Vision: Ocular manifestations in Harboyan syndrome include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, and other symptoms [8].

It's essential to note that CHED is a rare genetic disorder, and its signs and symptoms can vary from person to person. If you suspect someone has CHED or any other eye condition, it's crucial to consult an eye care professional for proper diagnosis and treatment.

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [7] - Context result 7 [8] - Context result 8

Diagnostic Tests for Congenital Hereditary Endothelial Dystrophy (CHED) of Cornea

Congenital hereditary endothelial dystrophy (CHED) is a rare form of corneal endothelial dystrophy that can be challenging to diagnose. While there are no specific diagnostic tests for CHED, several methods can help confirm the diagnosis and rule out other conditions.

• Genetic Testing: Genetic testing can be undertaken to confirm the diagnosis of CHED and provide accurate advice on prognosis and future family planning [1]. This usually involves testing a sample of your saliva or blood and looking for specific DNA changes [9].
• Clinical Evaluation: A thorough clinical evaluation is essential to diagnose CHED. This includes a detailed medical history, physical examination, and assessment of the cornea using specialized equipment such as an ophthalmoscope.
• Imaging Studies: Imaging studies like ultrasound biomicroscopy (UBM) or optical coherence tomography (OCT) can help evaluate the corneal structure and detect any abnormalities [10].
• Corneal Biopsy: In some cases, a corneal biopsy may be necessary to confirm the diagnosis of CHED. This involves taking a small sample of tissue from the cornea for further examination.

Differential Diagnosis

It's essential to consider other conditions that can cause similar symptoms and signs in infants and young children, such as:

• Sclerocornea
• Tears in Descemet membrane (usually due to forceps trauma or congenital glaucoma)
• Ulcers (infection)
• Metabolic disorders (e.g., mucopolysaccharidosis)
• Peters anomaly
• Edema (e.g., congenital hereditary endothelial dystrophy [CHED])

The mnemonic STUMPED can be helpful for remembering the differential diagnosis for congenital corneal opacities [13].

References

[1] Congenital hereditary endothelial dystrophy (CHED) can be diagnosed clinically but may be difficult to differentiate from early-onset posterior polymorphous corneal dystrophy. Genetic testing can be undertaken to confirm the diagnosis, facilitate genetic counselling, provide accurate advice on prognosis and future family planning [1].

[9] Sep 24, 2024 — Genetic testing. This usually involves testing a sample of your saliva or blood and looking for specific DNA changes.

[13] The mnemonic STUMPED is helpful for remembering the differential diagnosis for congenital corneal opacities: sclerocornea, tears in Descemet membrane (usually due to forceps trauma or congenital glaucoma), ulcers (infection), metabolic (eg, mucopolysaccharidosis), Peters anomaly, edema (eg, congenital hereditary endothelial dystrophy [CHED ...

Based on the search results, it appears that there are limited options for drug treatment of congenital hereditary endothelial dystrophy (CHED) of the cornea.

However, elevated oxidative stress in CHED corneal tissue suggests potential benefits from anti-inflammatory drugs to rescue mutated endothelial cells [2][3]. This implies that certain medications may be able to help alleviate symptoms or slow down disease progression, but it is essential to note that this is still an area of ongoing research and not a standard treatment option.

In contrast, surgical intervention such as corneal transplantation (penetrating keratoplasty) is often the primary management approach for CHED [9]. This involves replacing the damaged cornea with a healthy one from a donor.

It's also worth noting that there are no specific medications listed in the search results as a treatment for CHED. Arthritis treatment, which is mentioned in result 15, is not relevant to this condition.

In summary, while there may be some potential benefits from anti-inflammatory drugs, corneal transplantation remains the primary management approach for CHED.

References: [2] Elevated oxidative stress in CHED corneal tissue suggests potential benefits from anti-inflammatory drugs to rescue mutated endothelial cells. [3] Elevated oxidative stress in CHED corneal tissue suggests potential benefits from anti-inflammatory drugs to rescue mutated endothelial cells. [9] Management. edit. Management of CHED primarily involves corneal transplantation.

Differential Diagnosis of Congenital Hereditary Endothelial Dystrophy (CHED) of Cornea

Congenital Hereditary Endothelial Dystrophy (CHED) is a rare bilateral corneal condition that can be mistaken for other congenital corneal opacities. The differential diagnosis for CHED includes several conditions that present with similar symptoms.

Conditions to Consider:

• **Fuchs Endothelial Dyst