Amaurosis-hypertrichosis syndrome

Definition

Orphanet

Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.

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Classification

Categories:
Variants:

Symptoms

Medical Term Other Names Description
Retinal dystrophy Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Photophobia Extreme sensitivity of the eyes to light, Photodysphoria, Light hypersensitivity [more] Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Visual impairment Impaired vision, Loss of eyesight, Poor vision [more] Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Thick eyebrow Dense eyebrow, Hypertrichosis of the eyebrow, Prominent eyebrows, Heavy eyebrows, Bushy eyebrows [more] Increased density/number and/or increased diameter of eyebrow hairs.
Hypertrichosis Excessive hair growth Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Nyctalopia Night-blindness, Difficulties with night vision, Poor night vision [more] Inability to see well at night or in poor light.
Blindness Legal blindness Blindness is the condition of lacking visual perception due to physiological or neurological factors.
Congenital blindness Blindness present at birth, Congenital amaurosis Blindness with onset at birth.

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