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Nystagmus-induced head nodding

MedGen UID:
Concept ID:
Disease or Syndrome
HPO: HP:0001361


Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNystagmus-induced head nodding

Conditions with this feature

Ocular albinism, type I
MedGen UID:
Concept ID:
Disease or Syndrome
Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus' (summary by Xiao and Zhang, 2009).
Ocular albinism with late-onset sensorineural deafness
MedGen UID:
Concept ID:
Congenital Abnormality
Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.\n\nThe most common form of ocular albinism is known as the Nettleship-Falls type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss.\n\nOcular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain.\n\nUnlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor.

Recent clinical studies


Zaman Q, Sadeeda, Anas M, Rehman G, Khan Q, Iftikhar A, Ahmad M, Owais M, Ahmad I, Muthaffar OY, Abdulkareem AA, Bibi F, Jelani M, Naseer MI
Genes (Basel) 2023 Jan 5;14(1) doi: 10.3390/genes14010145. PMID: 36672886Free PMC Article

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