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cone-rod dystrophy 14

Description

Cone-Rod Dystrophy 14 Description

Cone-Rod Dystrophy 14, also known as CRD14, is a rare inherited eye disorder that affects the light-sensitive cells of the retina called cones and rods. This condition is characterized by deterioration of the cone cells in childhood or early adult life, followed by progressive deterioration of the rod photoreceptors.

Key Features:

  • Deterioration of cone cells in childhood or early adult life
  • Progressive deterioration of rod photoreceptors
  • Loss of central acuity and color vision occurs in young adults between 20-40 years old
  • Symptoms typically worsen with age

Prevalence and Inheritance: CRD14 is an inherited condition, but the exact mode of inheritance is not specified. It is considered a rare disorder, affecting approximately 1 in 40,000 people.

Symptoms and Progression:

  • Loss of central acuity and color vision
  • Symptoms typically worsen with age
  • Most patients experience significant visual impairment by middle age

References:

  • [5] - Cone-Rod Dystrophy 14 is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor.
  • [6] - A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor ...
  • [7] - Definition: A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod ...

Additional Characteristics

  • Cone-Rod Dystrophy 14, also known as CRD14, is a rare inherited eye disorder that affects the light-sensitive cells of the retina called cones and rods.
  • Deterioration of cone cells in childhood or early adult life
  • Progressive deterioration of rod photoreceptors
  • Loss of central acuity and color vision occurs in young adults between 20-40 years old
  • Symptoms typically worsen with age
  • Loss of central acuity and color vision
  • Most patients experience significant visual impairment by middle age

Signs and Symptoms

Early Signs and Symptoms

The early signs and symptoms of cone-rod dystrophy typically occur in childhood and may include:

  • Decreased sharpness of vision (visual acuity) [12]
  • Increased sensitivity to light (photophobia) [12]

These features are often followed by:

  • Impaired color vision (dyschromatopsia) [9, 10, 12]
  • Blind spots (scotomas) in the center of the visual field [8, 9, 10, 12]
  • Partial side (peripheral) vision loss [10, 11, 12]

Progressive Vision Loss

As cone-rod dystrophy progresses, individuals may experience:

  • Weakening vision in the center of their visual field [9]
  • Blind spots developing in central and peripheral vision [10]
  • Decreased sensitivity to light (photophobia) [5]

Additional Symptoms

In some cases, cone-rod dystrophy can occur alone or as part of a syndrome that affects multiple parts of the body. Additional symptoms may include:

  • Loss of visual acuity [5, 6]
  • Photophobia [7]
  • Dyschromatopsia (impaired color vision) [5, 6]

References

[1] - Cone-rod dystrophy is characterized by primary cone involvement or, occasionally, by concomitant loss of both cones and rods, explaining the predominant symptoms of CRDs: decreased visual acuity, color vision defects, photoaversion and decreased sensitivity in the central visual field, later followed by progressive loss in peripheral vision and night blindness. [5]

[2] - Cone dystrophy and cone-rod dystrophy describe a group of inherited retinal dystrophies caused by genetic changes in one of the 35 genes identified so far that ... An ophthalmologist is able to diagnose someone with cone/cone-rod dystrophy based on the presenting symptoms, clinical examination and performing an electro-diagnostic test of the ... [6]

[3] - Main clinical signs are loss of visual acuity, photophobia, dyschromatopsia, and exclusive cone involvement at ERG. However, in some cone dystrophies, there may be a concomitant loss of both cones and rods. [7]

[4] - Eventually blind spots in the field of vision can occur. These symptoms present as a result of the deterioration of cone photoreceptor cells. [8]

[5] - Cone-rod dystrophy is a retinal disease that affects cells of your retina. It leads to progressive vision loss and, eventually, blindness. ... Possible CRD symptoms include (generally organized from early to late stage): Weakening vision in the center of your visual field (this usually starts during childhood). [9]

[6] - Cone-Rod dystrophy is a group of rare and inherited retinal degenerations (IRDs) which affect the light-sensing rod and cone photoreceptor cells in the retina, the tissue layer which lines the back of the eye. ... are common early symptoms of Cone-Rod dystrophy, while blind spots also develop in central and peripheral vision, due to ... [10]

[7] - Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body. Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. [11]

[8] - The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. [12]

Additional Symptoms

  • Increased sensitivity to light (photophobia)
  • Decreased sharpness of vision (visual acuity)
  • Impaired color vision (dyschromatopsia)
  • Blind spots (scotomas) in the center of the visual field
  • Partial side (peripheral) vision loss
  • Weakening vision in the center of their visual field
  • Blind spots developing in central and peripheral vision
  • Decreased sensitivity to light (photophobia)
  • Loss of visual acuity
  • Dyschromatopsia (impaired color vision)
  • photophobia

Diagnostic Tests

Cone-rod dystrophy (CRD) diagnosis involves several diagnostic tests to confirm the condition. Here are some of the key diagnostic tests for CRD:

  • Electroretinogram (ERG): This test measures the electrical activity of the retina in response to light. It can help determine whether cone and rod cells are functioning properly, which is essential for diagnosing CRD [3].
  • Fundus examination: A thorough eye examination by an ophthalmologist or optometrist can reveal signs of CRD, such as changes in the retina's appearance [2].
  • Autofluorescence imaging: This imaging technique uses a special camera to capture images of the retina and can help identify areas where cone cells are damaged [2].
  • Optical coherence tomography (OCT): OCT is a non-invasive imaging test that uses low-coherence interferometry to produce high-resolution images of the retina. It can help diagnose CRD by revealing changes in the retinal structure [6].
  • Full-field electroretinogram: This test measures the electrical activity of the entire retina, which can help confirm the diagnosis of CRD [4].

These diagnostic tests are essential for confirming a diagnosis of cone-rod dystrophy and ruling out other conditions that may have similar symptoms.

References: [1] Not available in context [2] 2. Cone-rod dystrophy (CORD/CRD) is a rare hereditary retinal disorder with a worldwide prevalence of ~1 in 40000. [3] Jun 14, 2021 — The test can determine whether cone and rod cells are functioning properly. A weak or absent signal of cone cells indicates cone dystrophy. [4] COD and CRD are diagnosed mainly on the basis of photopic and scotopic electroretinogram responses, fundoscopy and optical coherence tomography (Jiang and Baehr ... [5] Not available in context [6] by X Liu · 2015 · Cited by 27 — This study determines the genetic lesions with phenotypic correlations in patients with diverse autosomal recessive inherited retinal ...

Additional Diagnostic Tests

  • Electroretinogram (ERG)
  • Optical coherence tomography (OCT)
  • Fundus examination
  • Autofluorescence imaging
  • Full-field electroretinogram

Treatment

Current Status of Drug Treatment for Cone-Rod Dystrophy

As of now, there are no proven treatments for Cone-Rod Dystrophies (CRD) [1]. However, recent research has shown promise in the development of gene therapy as a potential treatment option.

  • Gene therapy has been successfully used to restore some sight to mice with cone dystrophy [8].
  • A study published in 2022 found that treating mice with CDHR1 mutations using an adeno-associated virus serotype 8 (AAV8) led to improved vision [2].
  • Another study from 2024 reported on the safety profile of SPVN06 (SparingVision) gene therapy in patients with rod-cone dystrophy, showing a manageable safety profile [9].

While these findings are encouraging, it's essential to note that more research is needed before we can say whether gene therapy could be used in humans with CRD. Additionally, there are currently no approved treatments for cone/cone-rod dystrophy at present [4]. Management of the condition focuses on alleviating symptoms and optimizing visual function.

Key Points:

  • No proven treatments exist for Cone-Rod Dystrophies.
  • Gene therapy has shown promise in restoring some sight to mice with cone dystrophy.
  • More research is needed before gene therapy can be considered a viable treatment option for humans.
  • Current management focuses on alleviating symptoms and optimizing visual function.

References:

[1] Feb 4, 2019 — Treatment. There are no proven treatments for Cone-Rod Dystrophies as of yet...

[2] May 6, 2022 — In the study, mice with CDHR1 mutations were treated with a gene therapy that used an adeno-associated virus serotype 8 (AAV8)...

[4] Nov 30, 2020 — There are no approved treatments for cone/cone-rod dystrophy at present.

[8] Research. Gene therapy has restored some sight to mice with cone dystrophy.

[9] May 9, 2024 — SPVN06 (SparingVision) gene therapy had a manageable safety profile in patients with rod-cone dystrophy (RCD).

Recommended Medications

  • No proven treatments exist for Cone-Rod Dystrophies.
  • Gene therapy has shown promise in restoring some sight to mice with cone dystrophy.
  • More research is needed before gene therapy can be considered a viable treatment option for humans.
  • Current management focuses on alleviating symptoms and optimizing visual function.
  • SPVN06 (SparingVision) gene therapy had a manageable safety profile in patients with rod-cone dystrophy (RCD).
  • A study found that treating mice with CDHR1 mutations using an adeno-associated virus serotype 8 (AAV8) led to improved vision.

💊 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 Cone-Rod Dystrophy

Cone-rod dystrophy (CRD) is a group of rare eye disorders that affect the cone cells and rod cells of the retina, leading to progressive vision loss. When diagnosing CRD, it's essential to consider other conditions that may present similar symptoms.

Similar Conditions to Consider:

  • Primary Peripheral Retinopathies: These are usually clearly differentiated from CRDs, but in some cases, they may share features such as retinal dystrophy [4].
  • Macular Dystrophies: Other macular dystrophies must be considered in the differential diagnosis of CRD, particularly when diagnosing cone-rod dystrophy [9].
  • Hereditary Optic Atrophies: These conditions should also be ruled out when diagnosing CRD, as they can present with similar symptoms such as visual loss and color vision abnormalities [9].

Diagnostic Tools:

To differentiate CRD from other conditions, various diagnostic tools may be used, including:

  • Fluorescent Angiography: This test can help rule out other macular dystrophies and hereditary optic atrophies by showing the extent of retinal damage [9].
  • ERG (Electroretinography): This test measures the electrical activity of the retina and can help differentiate CRD from other conditions such as primary peripheral retinopathies [4].

References:

[1] Hamel CP, et al. (2007) - Differential diagnosis of non syndromic CRDs with other pigmentary retinopathies [4] Hamel CP, et al. (2007) - CRDs are usually clearly differentiated from primary peripheral retinopathies and macular dystrophies. [9] Simunovic MP, et al. (1998) - The major clinical features of cone dystrophy are photophobia, reduced visual acuity and abnormal colour vision.

Note: The above answer is based on the context provided, which includes search results containing brief descriptions of the content of each page.

Additional Differential Diagnoses

  • Primary Peripheral Retinopathies
  • Macular Dystrophies
  • Hereditary Optic Atrophies

Additional Information

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