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Ayazi syndrome
Ayazi syndrome is a rare disease
This condition is an X-linked retinal dystrophy.
Ayazi syndrome is characterized by the below features.
- choroideremia, causing in affected males progressive nyctalopia and eventual central blindness.
- Obesity, moderate intellectual disability and
- congenital mixed (sensorineural and conductive) deafness are also observed.
- Female carriers show typical retinal changes indicative of the choroideremia carrier state.
Synonyms
- Choroideremia deafness obesity
- Choroideremia
- Obesity
- Congenital deafness
- Del(X)(q21)
- Monosomy Xq21
- Xq21 microdeletion syndrome
Prevalence
<1 / 1000000
Inheritance:
X-linked recessive
Age of onset:
Neonatal, Infancy
Symptoms of Ayazi syndrome
Very frequent
- Chorioretinal abnormality
- Choroidal degeneration
- Choroideremia
- Sensorineural hearing impairment
Frequent
- Abnormal cochlea morphology
- Abnormality of the Achilles tendon
- Ankle clonus
- Anterior hypopituitarism
- Ataxia
- Bilateral sensorineural hearing impairment
- Conductive hearing impairment
- Delayed skeletal maturation
- Dilatated internal auditory canal
- Gait ataxia
- Global developmental delay
- Growth delay
- Growth hormone deficiency
- Hyperreflexia
- Intellectual disability, mild
- Obesity
- Optic atrophy
- Peripheral visual field loss
- Pituitary hypothyroidism
- Postnatal growth retardation
- Progressive night blindness
- Reduced visual acuity
- Reticular pigmentary degeneration
- Stapes ankylosis
- Visual acuity test abnormality
Occasional
- Dysdiadochokinesis
- Hypertension
- Nystagmus
- Renal artery stenosis
- Seizures
- Strabismus
- Upper limb muscle weakness
