Amaurosis congenita, cone-rod type, with congenital hypertrichosis

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Amaurosis congenita, cone-rod type, with congenital hypertrichosis
Synonyms
Pronounce
Specialty	Ophthalmology, Dermatology
Symptoms	Vision loss, Hypertrichosis
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Genetic testing, Ophthalmic examination
Differential diagnosis	Retinitis pigmentosa, Leber congenital amaurosis
Prevention
Treatment	Supportive care, Low vision aids
Medication
Prognosis	Variable
Frequency	Rare
Deaths	N/A

A rare genetic disorder affecting vision and hair growth

Amaurosis congenita, cone-rod type, with congenital hypertrichosis is a rare genetic disorder characterized by early-onset vision impairment and excessive hair growth. This condition is a subtype of Leber congenital amaurosis (LCA), which primarily affects the retina and leads to severe visual impairment from birth. The additional feature of congenital hypertrichosis distinguishes this subtype from other forms of LCA.

Genetics

Amaurosis congenita, cone-rod type, with congenital hypertrichosis is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific genetic mutations responsible for this condition are located on the chromosome associated with retinal development and function.

Clinical Features

The primary clinical features of this condition include:

• Visual Impairment: Affected individuals experience severe visual impairment from birth. This is due to the dysfunction of the cone cells and rod cells in the retina, which are responsible for color vision and low-light vision, respectively.
• Congenital Hypertrichosis: Patients exhibit excessive hair growth, which is present at birth. This can include a unibrow or generalized increased hair growth over the body.

Diagnosis

Diagnosis of amaurosis congenita, cone-rod type, with congenital hypertrichosis is based on clinical evaluation, family history, and genetic testing. Electroretinography (ERG) can be used to assess the function of the retinal cells, confirming the dysfunction of cone and rod cells. Genetic testing can identify mutations in the genes associated with this condition.

Management

There is currently no cure for this condition. Management focuses on supportive care and addressing the symptoms. This may include:

• Vision Aids: Use of visual aids and educational support to help individuals maximize their remaining vision.
• Cosmetic Management: Options for managing excessive hair growth, such as laser hair removal or other cosmetic procedures.

Prognosis

The prognosis for individuals with amaurosis congenita, cone-rod type, with congenital hypertrichosis varies. While the visual impairment is typically stable, the excessive hair growth can be managed cosmetically. Early intervention and supportive care can improve quality of life.

Related pages

• Leber congenital amaurosis
• Hypertrichosis
• Retinal disease