GTR Home > Conditions/Phenotypes > Atrophia bulborum hereditaria

Disease characteristics

Excerpted from the GeneReview: NDP-Related Retinopathies
NDP-related retinopathies are characterized by a spectrum of fibrous and vascular changes of the retina at birth that progress through childhood or adolescence to cause varying degrees of visual impairment. The most severe phenotype is described as Norrie disease (ND), characterized by greyish-yellow fibrovascular masses (pseudogliomas) secondary to retinal vascular dysgenesis and detachment. Congenital blindness is almost always present. Approximately 30%-50% of males with ND have developmental delay/intellectual disability, behavioral abnormalities, or psychotic-like features. The majority of males with ND develop sensorineural hearing loss. Less severe phenotypes include: persistent hyperplastic primary vitreous (PHPV), characterized by a fibrotic white stalk from the optic disk to the lens; X-linked familial exudative vitreoretinopathy (XL-FEVR), characterized by peripheral retinal vascular anomalies with or without fibrotic changes and retinal detachment; retinopathy of prematurity (ROP); and Coats disease, an exudative proliferative vasculopathy. Phenotypes can vary within families.

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Associated genes

Clinical features

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  • EEG abnormalities
  • Muscle weakness
  • Hyperreflexia
  • Abnormality of the pupil
  • Hypertonia
  • Aggressive behavior
  • Microcephaly
  • Intellectual disability, progressive
  • Cognitive impairment
  • Abnormality of the helix
  • Opacification of the corneal stroma
  • Macrotia
  • Seizure
  • Cataract
  • Glaucoma
  • Nystagmus
  • Retinal detachment
  • Retinal dysplasia
  • Hallucinations
  • Cryptorchidism
  • Thin vermilion border
  • Sensorineural hearing impairment
  • Narrow nasal bridge
  • Deeply set eye
  • Chorioretinal abnormality
  • Microphthalmos
  • Shallow anterior chamber
  • Hypotelorism
  • Blindness
  • Sclerocornea
  • Optic atrophy
  • Psychosis
  • Autism
  • Dementia
  • Stereotypic behavior
  • Diabetes mellitus
  • Ectopia lentis
  • Muscular hypotonia
  • Migraine
  • Cerebral cortical atrophy
  • Sleep disturbance
  • Developmental regression
  • Scoliosis
  • Involuntary movements
  • Decreased body weight
  • Abnormality of the vitreous humor
  • Venous insufficiency
  • Attention deficit hyperactivity disorder
  • Aplasia/Hypoplasia of the cerebellum
  • Hypoplasia of the iris
  • Anterior chamber synechiae
  • Abnormality of the retinal vasculature
  • Aplasia/Hypoplasia of the iris
  • Aplasia/Hypoplasia of the lens
  • Abnormality of the diencephalon
  • Cheekbone underdevelopment
  • Abnormality of immune system physiology
  • Neoplasm of the eye
  • Erectile abnormalities
  • Self-injurious behavior
  • Vascular neoplasm
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