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Aland Island eye disease
ICD-10 Codes
Related ICD-10:
Description
Aland Island Eye Disease: A Rare X-linked Recessive Retinal Disorder
Aland Island eye disease, also known as Forsius-Eriksson syndrome, is a rare X-linked recessive retinal disorder characterized by a combination of fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, and defective darkness adaptation [4][6].
Key Features:
- Fundus hypopigmentation
- Decreased visual acuity
- Nystagmus (involuntary eye movements)
- Astigmatism (irregular curvature of the cornea or lens)
- Progressive axial myopia (nearsightedness)
- Defective darkness adaptation
These symptoms can lead to severe vision impairment and blindness in affected individuals [3][7].
Genetic Basis:
Aland Island eye disease is caused by mutations in the CACNA1F gene, which codes for a calcium channel protein essential for photoreceptor function [9]. This genetic defect leads to the characteristic retinal abnormalities and visual symptoms associated with the disease.
References:
[3] - Males with this disorder may experience severe, progressive near-sightedness, 'dancing eyes', a specific form (protan) of color blindness and decreased ability ...
[4] - by R Jalkanen · 2007 · Cited by 84 — Åland Island eye disease (AIED), also known as Forsius-Eriksson syndrome, is an X-linked recessive retinal disease characterized by a combination of fundus ...
[6] - An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, ...
[7] - An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has ...
[9] - by WC Lai · 2022 — Genetic testing revealed a CACNA1F gene mutation indicating Aland eye disease, an X-linked recessive retinal disease characterized by fundus ...
Additional Characteristics
- Fundus hypopigmentation
- Decreased visual acuity
- Nystagmus (involuntary eye movements)
- Astigmatism (irregular curvature of the cornea or lens)
- Progressive axial myopia (nearsightedness)
- Defective darkness adaptation
Signs and Symptoms
Aland Island Eye Disease (AIED) Symptoms
Aland Island Eye Disease, also known as AIED, is a rare X-linked recessive retinal disease characterized by several distinct symptoms.
- Fundus Hypopigmentation: One of the primary symptoms of AIED is fundus hypopigmentation, which refers to decreased pigmentation in the retina and iris. This can lead to a mild to severe decrease in vision.
- Decreased Visual Acuity: Affected individuals often experience decreased visual acuity due to foveal hypoplasia, which means that the part of the retina responsible for sharp central vision is underdeveloped.
- Nystagmus: Nystagmus, a condition characterized by involuntary eye movements, is also a common symptom of AIED.
- Astigmatism: Astigmatism, a refractive error where the cornea or lens of the eye is irregularly shaped, can also be present in individuals with AIED.
These symptoms can vary in severity and may progress over time. It's essential to consult a medical professional for an accurate diagnosis and treatment plan.
References:
- [1] Fundus hypopigmentation leading to decreased vision due to malformation of the retina structures.
- [2] Aland Island eye disease (AIED) characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, ...
- [3] Affected males show a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision deficiency.
- [4] An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, ...
- [5] Aland Island eye disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, ...
Additional Symptoms
- Astigmatism
- Fundus Hypopigmentation
- Decreased Visual Acuity
- nystagmus
Diagnostic Tests
Diagnostic Tests for Aland Island Eye Disease
Aland Island eye disease (AIED) is a rare X-linked recessive retinal disease that affects males. The diagnosis of AIED can be challenging, but several diagnostic tests can help confirm the condition.
- Full gene sequencing: This test can identify mutations in the C1QTNF5 gene, which is associated with AIED [2].
- Clinical ophthalmologic examination: A thorough eye examination by an experienced ophthalmologist is essential to diagnose AIED. The examination should include funduscopy, visual acuity testing, refraction defects, and other relevant tests [1
Additional Diagnostic Tests
- Full gene sequencing
- Clinical ophthalmologic examination
Treatment
Treatment Options for Aland Island Eye Disease
Aland Island eye disease (AIED) is a rare X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, and progressive axial myopia. Unfortunately, there is no specific treatment available to cure the disease.
Correction of Myopia
The only treatment for AIED is the correction of the progressive axial myopia through the use of glasses or contact lenses [7]. This can help alleviate some symptoms, but it does not address the underlying retinal degeneration.
Low Vision Aids
In addition to correcting myopia, low vision aids may also be helpful in managing the visual impairment associated with AIED [7].
No Other Treatment Options
Currently, there are no other treatment options available for AIED. Research into the disease is ongoing, but no specific therapies or medications have been identified as effective treatments.
It's essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance on managing symptoms and addressing any related health concerns.
References:
- [7] The only treatment is correction of the near sightedness with glasses and contact lenses. The use of low vision aids can also be helpful.
- [4] Please consult with a healthcare professional for medical advice and treatment.
Recommended Medications
- Correction of progressive axial myopia through glasses or contact lenses
- Low vision aids
💊 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
Aland Island eye disease, also known as AIED, shares some clinical features with other retinal diseases that need to be considered in the differential diagnosis.
- X-linked ocular albinism (OA1): This condition is characterized by misrouting of optic nerve axons, which can be excluded in AIED patients. [1]
- CSNB2: Aland Island eye disease shares some clinical features with CSNB2, such as night blindness and mild color vision defects. However, the presence of fundus hypopigmentation and decreased visual acuity distinguishes AIED from CSNB2. [5]
Other conditions that may be considered in the differential diagnosis of AIED include:
- X-linked cone-rod dystrophy type 3: This condition is characterized by progressive loss of cone and rod photoreceptors, leading to severe visual impairment. While it shares some clinical features with AIED, such as fundus hypopigmentation and decreased visual acuity, the presence of protan color vision defect is more characteristic of AIED. [9]
- X-linked congenital stationary night blindness (CSNB2A): This condition is characterized by night blindness and mild color vision defects, but it does not typically present with fundus hypopigmentation or decreased visual acuity. [5]
It's worth noting that the differential diagnosis of AIED requires a comprehensive evaluation of the patient's clinical presentation, including fundus examination, visual acuity testing, and color vision assessment.
Additional Differential Diagnoses
- X-linked ocular albinism (OA1)
- CSNB2
- congenital stationary night blindness
- X-linked cone-rod dystrophy 2
Additional Information
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- MIM:300600
- IAO_0000115
- An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene.
- oboInOwl#hasExactSynonym
- FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
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- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000149
- relatedICD
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- rdf-schema#label
- Aland Island eye disease
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- t332725
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