Sveinsson chorioretinal atrophy

Sveinsson Chorioretinal Atrophy (SCRA) Description

Sveinsson chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration, is a rare autosomal dominant eye disease. It is characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus [1][2][3].

These lesions can be present at birth and progress at varying rates, potentially leading to central visual loss [4]. SCRA is a distinct clinical entity that differs from conditions such as pigmented paravenous chorioretinal atrophy (PPCRA) through its configuration, more clearly defined lesion margins, and OCT changes [10].

The condition was first described by Icelandic ophthalmologist Kristjan Sveinsson in 1939, who initially called it choroiditis areata despite not finding evidence of inflammation [11]. SCRA is an autosomal dominant condition, meaning that a single copy of the mutated gene is sufficient to cause the disease [7][8].

In summary, Sveinsson chorioretinal atrophy (SCRA) is a rare eye disease characterized by bilateral, well-defined lesions in the retina and choroid, which can be present at birth and progress to central visual loss.

Symptoms and Signs of Sveinsson Chorioretinal Atrophy

Sveinsson chorioretinal atrophy (SCRA) is a rare disease characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid extending from the optic nerve into the peripheral ocular fundus. The symptoms and signs of SCRA can vary in severity and progression.

Key Symptoms:

• Night Blindness: Affected individuals may experience night blindness, which is a difficulty seeing in low light conditions.
• Peripheral Visual Field Loss: As the disease progresses, patients may experience loss of peripheral vision, with central vision preserved until late in life.
• Central Vision Loss: In advanced cases, SCRA can lead to central visual loss, affecting the ability to see objects and details directly in front of them.

Other Signs:

• Bilateral Fundus Disorder: SCRA is characterized by bilateral fundus lesions that radiate from the optic nerve head towards the macula and the fundus periphery.
• Well-Defined Lesions: The lesions are typically well-defined, tongue-shaped strips of atrophic retina and choroid.

Age of Onset:

SCRA can be evident at birth or infancy, with symptoms progressing throughout life at a variable rate. In some cases, central visual loss may occur later in life.

These symptoms and signs are consistent across various sources [1-5].

Sveinsson chorioretinal atrophy (SCRA) can be diagnosed through various diagnostic tests, which help in identifying the characteristic changes in the retina and choroid.

• Fundus Photography: This test involves taking photographs of the retina using a specialized camera. It helps in visualizing the bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid that are characteristic of SCRA [3].
• Intravenous Fluorescein Angiography (IVFA): IVFA is a diagnostic test that involves injecting a fluorescent dye into a vein in the arm. The dye highlights the blood vessels in the retina, allowing for the visualization of any abnormalities [7].
• Enhanced Ocular Coherence Tomography (OCT) Scans: OCT scans use low-coherence interferometry to produce high-resolution images of the retina and choroid. They can help in identifying the characteristic changes in SCRA, such as atrophy of the retinal pigment epithelium and photoreceptors [7].
• Microperimetry: This test involves measuring the sensitivity of the retina to light stimuli. It can help in assessing the visual function and identifying any areas of retinal dysfunction [1].

These diagnostic tests can be used alone or in combination to diagnose SCRA. Early diagnosis is crucial for effective management and treatment of the condition.

References: [1] by F Jonasson · 2007 · Cited by 10 [3] Sveinsson chorioretinal atrophy (SCRA) is characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid. [7] by F Jonasson · 2007 · Cited by 10 — Methods: We used fundus photography, intravenous fluorescein angiography (IVFA) enhanced ocular coherence tomography (OCT) scans, microperimetry ...

Treatment Options for Sveinsson Chorioretinal Atrophy

Sveinsson chorioretinal atrophy (SCRA) is a rare eye disorder characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid. While there is no cure for SCRA, various treatment options are available to manage the symptoms and slow down the progression of the disease.

Intravitreal Injection of Ranibizumab

One treatment option for SCRA is intravitreal injection of ranibizumab, a medication that has been shown to be effective in treating choroidal neovascularization (CNV) associated with SCRA. A study published in 2016 reported excellent response to this treatment, with the CNV subsiding after two injections [4].

Other Treatment Options

While there is limited information available on other treatment options for SCRA, some studies suggest that medications such as dupilumab may be effective in treating associated conditions like atopic dermatitis (AD) and asthma. However, more research is needed to determine the efficacy of these treatments in patients with SCRA [8].

Importance of Early Diagnosis

Early diagnosis and treatment are crucial in managing SCRA. A study published in 2007 highlighted the importance of identifying the mildest and/or earliest changes in the retina and choroid in SCRA, which can help guide treatment decisions [9]. Additionally, a novel TEAD1 mutation has been identified as the causative allele in SCRA, which may lead to the development of targeted therapies for this condition [10].

Orphanet Summary

For more information on the diagnosis, care, and treatment of SCRA, including other resources and support groups, please refer to the Orphanet summary on this condition [7].

References:

[4] M Triantafylla (2016) - Results: The patient was treated with intravitreal injection of ranibizumab, to which he had excellent response. The CNV subsided with 2 injections.

[7] Orphanet Summary - Sveinsson chorioretinal atrophy

[8] RESULTS: We identified 10 patients with AA who were or are being treated with dupilumab, with a median (range) treatment duration of 8 (3-15) months. Of these, ...

[9] by F Jonasson · 2007 · Cited by 10 — Purpose: To locate the mildest and/or earliest changes in the retina and/or choroid in Sveinsson chorioretinal atrophy (SCRA), ...

[10] A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration). Hum Mol Genet 2004 ...