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Ocular albinism, type I(OA1)

MedGen UID:
90991
Concept ID:
C0342684
Disease or Syndrome
Synonyms: Nettleship-Falls type ocular albinism; OA1; Ocular albinism type 1; Ocular Albinism, X-Linked
Modes of inheritance:
X-linked inheritance
MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, 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.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: OA1 - X-linked ocular albinism (78642008); X-linked ocular albinism (78642008); X-linked recessive ocular albinism (78642008); X-linked ocular albinism, Nettleship type (78642008); Nettleship-Falls type ocular albinism (78642008); Ocular albinism, type I (78642008); X linked ocular albinism (78642008)
 
Gene (location): GPR143 (Xp22.2)
OMIM®: 300500
Orphanet: ORPHA54

Disease characteristics

Excerpted from the GeneReview: Ocular Albinism, X-Linked
X-linked ocular albinism (XLOA) is a disorder of melanosome biogenesis leading to minor cutaneous and adnexal manifestations and congenital and persistent visual impairment in affected males. XLOA is characterized by infantile nystagmus, reduced visual acuity, hypopigmentation of the iris pigment epithelium and the ocular fundus, and foveal hypoplasia. Significant refractive errors, reduced or absent binocular functions, photoaversion, and strabismus are common. XLOA is a non-progressive disorder and the visual acuity remains stable throughout life, often slowly improving into the mid-teens. [from GeneReviews]
Authors:
Richard Alan Lewis   view full author information

Additional descriptions

From OMIM
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).  http://www.omim.org/entry/300500
From GHR
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.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.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.  https://ghr.nlm.nih.gov/condition/ocular-albinism

Clinical features

Ocular albinism
MedGen UID:
38147
Concept ID:
C0078917
Congenital Abnormality
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
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.
Giant melanosomes in melanocytes
MedGen UID:
812551
Concept ID:
C3806221
Finding
Depigmented fundus
MedGen UID:
870372
Concept ID:
C4024816
Finding
Nystagmus-induced head nodding
MedGen UID:
871300
Concept ID:
C4025788
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOcular albinism, type I
Follow this link to review classifications for Ocular albinism, type I in Orphanet.

Recent clinical studies

Etiology

Bai J, Xie X, Lei Y, An G, He L, Lv X
Mol Med Rep 2014 Jul;10(1):491-5. Epub 2014 Apr 15 doi: 10.3892/mmr.2014.2154. PMID: 24736838
Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC
Gene 2014 Jan 1;533(1):398-402. Epub 2013 Oct 3 doi: 10.1016/j.gene.2013.09.053. PMID: 24096233
Kromberg JG, Bothwell J, Kidson SH, Manga P, Kerr R, Jenkins T
East Afr Med J 2012 Jan;89(1):20-7. PMID: 26845807
Yan N, Liao X, Cai SP, Lan C, Wang Y, Zhou X, Yin Y, Yu W, Liu X
PLoS One 2012;7(8):e43177. Epub 2012 Aug 20 doi: 10.1371/journal.pone.0043177. PMID: 22916221Free PMC Article
Kumar A, Gottlob I, McLean RJ, Thomas S, Thomas MG, Proudlock FA
Invest Ophthalmol Vis Sci 2011 Apr 8;52(5):2306-13. doi: 10.1167/iovs.10-5685. PMID: 21220551

Diagnosis

Jia X, Yuan J, Jia X, Ling S, Li S, Guo X
Mol Med Rep 2017 May;15(5):3069-3075. Epub 2017 Mar 23 doi: 10.3892/mmr.2017.6366. PMID: 28339057Free PMC Article
Gradstein L, Hansen RM, Cox GF, Altschwager P, Fulton AB
Doc Ophthalmol 2017 Apr;134(2):135-140. Epub 2017 Jan 31 doi: 10.1007/s10633-017-9574-1. PMID: 28144890
Young A, Dandekar U, Pan C, Sader A, Zheng JJ, Lewis RA, Farber DB
PLoS One 2016;11(9):e0162273. Epub 2016 Sep 8 doi: 10.1371/journal.pone.0162273. PMID: 27607449Free PMC Article
Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T, Miyake N, Hotta Y, Ogata T, Matsumoto N
J Hum Genet 2016 Sep;61(9):839-42. Epub 2016 May 26 doi: 10.1038/jhg.2016.56. PMID: 27225848
Cai CY, Zhu H, Shi W, Su L, Shi O, Cai CQ, Ling C, Li WD
Genet Mol Res 2013 Nov 18;12(4):5673-9. doi: 10.4238/2013.November.18.16. PMID: 24301936

Therapy

Onojafe IF, Adams DR, Simeonov DR, Zhang J, Chan CC, Bernardini IM, Sergeev YV, Dolinska MB, Alur RP, Brilliant MH, Gahl WA, Brooks BP
J Clin Invest 2011 Oct;121(10):3914-23. doi: 10.1172/JCI59372. PMID: 21968110Free PMC Article
Schnur RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M, Tomeo MA, Naids RE, Nussbaum RL
Am J Hum Genet 1989 Nov;45(5):706-20. PMID: 2573275Free PMC Article

Prognosis

Rimoldi V, Straniero L, Asselta R, Mauri L, Manfredini E, Penco S, Gesu GP, Del Longo A, Piozzi E, Soldà G, Primignani P
Gene 2014 Mar 1;537(1):79-84. Epub 2013 Dec 18 doi: 10.1016/j.gene.2013.11.102. PMID: 24361966
Ghosh A, Sonavane U, Andhirka SK, Aradhyam GK, Joshi R
J Mol Model 2012 May;18(5):2117-33. Epub 2011 Sep 22 doi: 10.1007/s00894-011-1228-8. PMID: 21938455
Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA
Am J Med Genet A 2009 Mar;149A(3):466-9. doi: 10.1002/ajmg.a.32654. PMID: 19208379
Newton JM, Orlow SJ, Barsh GS
Genomics 1996 Oct 15;37(2):219-25. doi: 10.1006/geno.1996.0545. PMID: 8921399
Schiaffino MV, Baschirotto C, Pellegrini G, Montalti S, Tacchetti C, De Luca M, Ballabio A
Proc Natl Acad Sci U S A 1996 Aug 20;93(17):9055-60. PMID: 8799153Free PMC Article

Clinical prediction guides

Bai J, Xie X, Lei Y, An G, He L, Lv X
Mol Med Rep 2014 Jul;10(1):491-5. Epub 2014 Apr 15 doi: 10.3892/mmr.2014.2154. PMID: 24736838
Rimoldi V, Straniero L, Asselta R, Mauri L, Manfredini E, Penco S, Gesu GP, Del Longo A, Piozzi E, Soldà G, Primignani P
Gene 2014 Mar 1;537(1):79-84. Epub 2013 Dec 18 doi: 10.1016/j.gene.2013.11.102. PMID: 24361966
Dijkstal JM, Cooley SS, Holleschau AM, King RA, Summers CG
J Pediatr Ophthalmol Strabismus 2012 Mar-Apr;49(2):81-6; quiz 87. Epub 2011 Jul 6 doi: 10.3928/01913913-20110628-02. PMID: 21732575
Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA
Am J Med Genet A 2009 Mar;149A(3):466-9. doi: 10.1002/ajmg.a.32654. PMID: 19208379
Incerti B, Cortese K, Pizzigoni A, Surace EM, Varani S, Coppola M, Jeffery G, Seeliger M, Jaissle G, Bennett DC, Marigo V, Schiaffino MV, Tacchetti C, Ballabio A
Hum Mol Genet 2000 Nov 22;9(19):2781-8. PMID: 11092754

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