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Ocular albinism with late-onset sensorineural deafness(OASD)

MedGen UID:
337149
Concept ID:
C1845069
Congenital Abnormality; Disease or Syndrome
Synonyms: Albinism ocular late onset sensorineural deafness; Albinism, Ocular, With Late-Onset Sensorineural Deafness; Albinism, Ocular, With Sensorineural Deafness; Deafness and ocular albinism; Ocular albinism with sensorineural deafness; Waardenburg Syndrome, Type Ii, With Ocular Albinism, Autosomal Recessive; Ws2-Oa
SNOMED CT: Ocular albinism with late-onset sensorineural deafness (722054007)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0010390
OMIM®: 300650
Orphanet: ORPHA1000

Definition

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.

The 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.

Ocular 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.

Unlike 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. [from MedlinePlus Genetics]

Clinical features

From HPO
Adult onset sensorineural hearing impairment
MedGen UID:
867176
Concept ID:
C4021534
Disease or Syndrome
The presence of sensorineural deafness with late onset.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Albinism
MedGen UID:
182
Concept ID:
C0001916
Disease or Syndrome
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
Giant melanosomes in melanocytes
MedGen UID:
812551
Concept ID:
C3806221
Finding
The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
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.
Depigmented fundus
MedGen UID:
870372
Concept ID:
C4024816
Finding
Nystagmus-induced head nodding
MedGen UID:
871300
Concept ID:
C4025788
Disease or Syndrome
Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOcular albinism with late-onset sensorineural deafness
Follow this link to review classifications for Ocular albinism with late-onset sensorineural deafness in Orphanet.

Recent clinical studies

Prognosis

Emes RD, Ponting CP
Hum Mol Genet 2001 Nov 15;10(24):2813-20. doi: 10.1093/hmg/10.24.2813. PMID: 11734546

Clinical prediction guides

Emes RD, Ponting CP
Hum Mol Genet 2001 Nov 15;10(24):2813-20. doi: 10.1093/hmg/10.24.2813. PMID: 11734546
Winship IM, Babaya M, Ramesar RS
Genomics 1993 Nov;18(2):444-5. doi: 10.1006/geno.1993.1495. PMID: 8288253

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