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snowflake vitreoretinal degeneration

Description

Snowflake vitreoretinal degeneration (SVD) is a rare, inherited eye disorder characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration, and cataract.

The condition is typically associated with autosomal dominant transmission, meaning that if one parent has the condition, each child has a 50% chance of inheriting it.

Some key features of SVD include:

  • Small granular-like deposits resembling snowflakes in the retina
  • Fibrillary vitreous degeneration (a type of abnormality in the gel-like substance called vitreous that fills the center of the eye)
  • Cataract (clouding of the lens in the eye)

These features can be observed through ophthalmoscopy, a medical examination technique used to visualize the interior of the eye.

The prevalence of SVD is unknown, but it has been described in several families. The condition's prognosis is generally excellent, although retinal detachment and vision loss are potential complications if left untreated.

References:

  • [1] Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been ...
  • [2] Snowflake Vitreoretinal Degeneration (SVD) Mutation R162W Provides New Insights into Kir7.1 Ion Channel Structure and Function. PLoS One. 2013 Aug 19. PubMed PMID: 23977131.
  • [12] Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been ...
  • [13] Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.

Additional Characteristics

  • Small granular-like deposits resembling snowflakes in the retina
  • Fibrillary vitreous degeneration (a type of abnormality in the gel-like substance called vitreous that fills the center of the eye)
  • Cataract (clouding of the lens in the eye)

Signs and Symptoms

Signs and Symptoms of Snowflake Vitreoretinal Degeneration

Snowflake vitreoretinal degeneration (SVD) is a rare genetic disorder characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration, and cataract. The signs and symptoms of SVD can vary from person to person, but here are some common features:

  • Presence of small granular-like deposits: These deposits resemble snowflakes and are found in the retina.
  • Fibrillary vitreous degeneration: This is a condition where the vitreous gel in the eye becomes cloudy and develops fibers.
  • Cataract: A cataract is a clouding of the lens in the eye that affects vision.
  • Retinal detachments: Only 21% of patients with SVD have retinal detachments, compared to about 50% in Wagner syndrome.
  • Disc pallor: This is a key feature of SVD, where the disc appears pale or grayish.
  • Vitreous changes: The vitreous has a characteristic fibrillary degeneration and may show signs of adhesion to the retina.

Age of Onset

The age of onset for SVD is unknown, but characteristic signs can be seen early in the second decade of life. This means that symptoms may start appearing around 10-15 years old.

Other Features

Some people with SVD may experience photopsia or flashes from vitreous traction causing mechanical stimulation to the retina. However, this is not a universal symptom and may vary from person to person.

These signs and symptoms are based on information from various sources, including:

  • [1] National Center for Advancing Translational Sciences; ... Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract.
  • [3] Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract.
  • [5] Only 21% of patients with snowflake vitreoretinal degeneration have retinal detachments compared with about 50% in Wagner syndrome.
  • [14] Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract.

Additional Symptoms

  • Cataract
  • Presence of small granular-like deposits
  • Fibrillary vitreous degeneration
  • Retinal detachments
  • Vitreous changes
  • Photopsia
  • pallor

Diagnostic Tests

Diagnostic Tests for Snowflake Vitreoretinal Degeneration

Snowflake vitreoretinal degeneration (SVD) can only be diagnosed by an ophthalmologist based on a complete eye examination [1]. The diagnosis involves identifying the characteristic small granular-like deposits resembling snowflakes in the retina, as well as other associated retinal and vitreous abnormalities.

Key Diagnostic Features:

  • Presence of small granular-like deposits resembling snowflakes in the retina [3][5][8]
  • Fibrillar anomaly of the vitreous [6]
  • Peripheral retinal abnormalities [6]
  • Corneal guttae may be a diagnostic feature, especially in family studies [7]

Diagnostic Process:

The diagnosis of SVD is made through a comprehensive eye examination by an ophthalmologist. This includes:

  • Visual acuity testing
  • Retinoscopy and refraction
  • Ophthalmoscopy to examine the retina and vitreous
  • Slit-lamp biomicroscopy to examine the anterior segment

Important Note:

A complete family history is also essential in diagnosing SVD, as it is an autosomal dominant condition [6].

References: [1] Context 2 [3] Context 3 [5] Context 5 [6] Context 6 [7] Context 7 [8] Context 8

Additional Diagnostic Tests

  • Visual acuity testing
  • Retinoscopy and refraction
  • Ophthalmoscopy to examine the retina and vitreous
  • Slit-lamp biomicroscopy to examine the anterior segment

Treatment

Treatment Options for Snowflake Vitreoretinal Degeneration

Snowflake vitreoretinal degeneration (SVD) is a rare inherited disorder characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration, and cataract. While there is no specific treatment that can cure SVD, various management options are available to alleviate symptoms and prevent complications.

  • Cataract Surgery: Visually significant cataracts may be removed to improve vision. [1][2]
  • Vitreoretinal Surgery: In some cases, vitreoretinal surgery may be necessary to repair retinal detachments or tears. [3][4]
  • Laser Photocoagulation: Prophylactic treatment with argon laser photocoagulation is recommended for any type of retinal break to prevent further complications. [5]
  • Monitoring and Follow-up: Regular dilated fundus examinations are essential to monitor the progression of the disease and detect any potential complications early on. [6][7]

It's worth noting that the prognosis for SVD is generally excellent, and with proper management, individuals with this condition can lead active and healthy lives. However, it's crucial to work closely with a healthcare provider specializing in vitreoretinal diseases to develop an effective treatment plan tailored to individual needs.

References:

[1] Orpha Number: 91496 - Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. [14] [2] PubMed PMID: 23977131 - Snowflake Vitreoretinal Degeneration (SVD) Mutation R162W Provides New Insights into Kir7.1 Ion Channel Structure and Function. [11] [3] by N Ashkenazy ยท 2023 โ€” This case expands

Recommended Medications

  • Cataract Surgery
  • Vitreoretinal Surgery
  • Laser Photocoagulation

๐Ÿ’Š 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 Snowflake Vitreoretinal Degeneration

Snowflake vitreoretinal degeneration (SVD) is a rare genetic disorder that affects the eyes, and its differential diagnosis involves considering other conditions that may present similar symptoms. Here are some conditions that should be considered in the differential diagnosis of SVD:

  • Congenital retinoschisis: This condition is characterized by the presence of discrete yellow-white spots in the retina, which can resemble snowflakes. However, congenital retinoschisis typically presents with more extensive retinal involvement and may not have the same degree of fibrillary vitreous degeneration as SVD [15].
  • Wagner's hereditary vitreoretinal degeneration: This condition is another rare genetic disorder that affects the eyes, and it can present with similar symptoms to SVD, including retinal detachment and snowflake-like deposits in the retina. However, Wagner's disease typically presents with more severe fibrillary vitreous degeneration and may have different systemic features [15].
  • Goldmann-Favre's vitreotapetoretinal degeneration: This condition is a rare genetic disorder that affects the eyes and can present with similar symptoms to SVD, including retinal detachment and snowflake-like deposits in the retina. However, Goldmann-Favre's disease typically presents with more extensive retinal involvement and may have different systemic features [15].

Key Points

  • Snowflake vitreoretinal degeneration (SVD) is a rare genetic disorder that affects the eyes.
  • The differential diagnosis of SVD involves considering other conditions that may present similar symptoms, including congenital retinoschisis, Wagner's hereditary vitreoretinal degeneration, and Goldmann-Favre's vitreotapetoretinal degeneration.
  • Each of these conditions has distinct features that can help differentiate them from SVD.

References

[15] DIFFERENTIAL DIAGNOSIS The discrete yellow-white spots characteristic of snowflake degeneration may not be specific indicators of any particular disease. ... congenital retinoschisis,7'8 Wagner's hereditary vitreoretinal degeneration,9-10 and Goldmann-Favre's vitreotapetoretinal degeneration.11'12 The differences among these three diseases are discussed in the text.

[13] The absence of coding sequence variation in the only collagen gene within the disease-region, suggests a novel pathogenesis for vitreoretinal degeneration. Snowflake vitreoretinal degeneration should be considered in the differential diagnosis of families with fibrillar anomaly of the vitreous.

[14] Snowflake vitreoretinal degeneration should be considered in the differential diagnosis of families with fibrillar anomaly of the vitreous. ... Snowflake vitreoretinal degeneration (SVD, MIM ...

Additional Information

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