Retinal dysplasia X linked

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Retinal Dysplasia, X-linked
Specialty	Ophthalmology, Genetics
Symptoms	Vision impairment, Blindness, Retinal folds, Retinal detachment
Usual onset	Early childhood
Duration	Lifelong
Causes	Genetic (X-linked recessive inheritance)
Diagnostic method	Clinical examination, Genetic testing
Differential diagnosis	Retinopathy of prematurity, Retinitis pigmentosa, Leber congenital amaurosis
Treatment	Supportive (e.g., vision aids, Low vision services)
Prognosis	Variable, depending on severity
Frequency	Rare

Retinal Dysplasia, X-linked is a rare genetic disorder characterized by abnormal development of the retina leading to vision impairment or blindness. This condition is inherited in an X-linked recessive manner, meaning it predominantly affects males, while females can be carriers of the condition.

Symptoms and Signs

Individuals with X-linked retinal dysplasia may present with a range of visual impairments, from mild vision loss to complete blindness. Symptoms typically manifest in early childhood. Key features include retinal folds, which are redundant folds of the retinal tissue, and in severe cases, retinal detachment can occur, further compromising vision.

Causes

The disorder is caused by mutations in specific genes located on the X chromosome. These genetic alterations disrupt the normal development of the retina, leading to the symptoms observed in affected individuals.

Diagnosis

Diagnosis of X-linked retinal dysplasia is primarily based on clinical examination, including detailed assessment of the retina through ophthalmoscopic examination. Genetic testing can confirm the diagnosis by identifying the causative mutation in the X chromosome.

Treatment

There is no cure for X-linked retinal dysplasia. Treatment focuses on managing symptoms and supporting individuals with the condition to achieve the best possible quality of life. This may include the use of vision aids and access to low vision services. In cases where retinal detachment occurs, surgical intervention may be necessary.

Prognosis

The prognosis for individuals with X-linked retinal dysplasia varies depending on the severity of the retinal abnormalities. While some individuals may retain partial vision, others may experience significant vision loss or blindness.

See also

• Retinal disease
• Genetic disorders
• X-linked recessive inheritance

Retinal dysplasia X linked Resources
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