AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesAnthropology, Education, Sociology and Social PhenomenaInformation ScienceNamed GroupsHealth Care
Albinism, OcularHearing Loss, SensorineuralDeafnessAlbinismAlbinism, OculocutaneousHypopigmentationMelanosomesPedigreeHypoparathyroidismSyndromeHearing Loss, BilateralChondrodysplasia PunctataEye ProteinsMonophenol MonooxygenaseBulbar Palsy, ProgressiveJervell-Lange Nielsen SyndromeIchthyosisNystagmus, PathologicAtaxiaNystagmus, CongenitalGenetic Diseases, X-LinkedGenes, RecessiveMutationGenetic LinkageKallmann SyndromeEar, InnerHearing LossAbnormalities, MultipleCochleaConsanguinityVestibular DiseasesNephritis, HereditaryAnemia, MegaloblasticHearing Loss, SuddenWaardenburg SyndromeMelanocytesX ChromosomeMembrane GlycoproteinsPigment Epithelium of EyeConnexinsPhenotypeAge of OnsetGenes, DominantMutation, MissenseDNA Mutational AnalysisAudiometry, Pure-ToneChromosome MappingAudiometryHermanski-Pudlak SyndromeIntellectual DisabilityLod ScoreThiamineEvoked Potentials, Auditory, Brain StemMolecular Sequence DataHeterozygoteChromosomes, Human, Pair 1Membrane Transport ProteinsHearing TestsDNA, MitochondrialFolkloreAuditory ThresholdHearing Loss, UnilateralInfant, NewbornHearing Loss, ConductiveLabyrinth DiseasesSpiral Ganglion
Phenotype60,000 malesDiagnosisCongenitalAffects the eyesNystagmusSyndromeMutationsGeneMelanocytesOpticInvolvementPatientsHearing lossCommon formVisionSkin
Phenotype2
  • Mutations in GNA13 (17q24.1), activated by OA1, have also been reported to cause the ocular albinism phenotype. (wikipedia.org)
  • OBJECTIVE OR PURPOSE: We aimed to characterize the ocular phenotype of patients with ROSAH (Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis, and Headache) syndrome and their response to therapy. (bvsalud.org)
60,000 males2
Diagnosis1
  • Diagnosis of oculocutaneous albinism is usually obvious from the skin examination, but ocular evaluation is necessary. (msdmanuals.com)
Congenital2
  • The deafness was sensorineural and congenital. (symptoma.com)
  • cytomegalovirus (CMV) should be done at the same time as genetic testing for infants with congenital hearing loss (for later-onset or progressive hearing loss, the likelihood that a positive CMV test result is due to postnatal exposure increases with age). (medscape.com)
Affects the eyes2
Nystagmus1
  • Ocular involvement causes strabismus, nystagmus, and decreased vision. (msdmanuals.com)
Syndrome1
  • CONCLUSIONS: Leveraging insights from the largest single center ROSAH cohort described to date, this study identifies three main factors as contributing to changes in visual function of patients with ROSAH syndrome: optic nerve involvement, intra-ocular inflammation including cystoid macular edema, and retinal degeneration. (bvsalud.org)
Mutations2
Gene3
  • Due to the presence of several forms of X-linked hearing loss, the gene responsible for sensorineural deafness could also map to the same region. (wikipedia.org)
  • In males (who have only one X chromosome), one altered copy of the GPR143 gene in each cell is sufficient to cause the characteristic features of ocular albinism. (medlineplus.gov)
  • Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, Marigo V. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. (medlineplus.gov)
Melanocytes1
  • Oculocutaneous albinism (OCA) is a group of rare inherited disorders in which a normal number of melanocytes are present but melanin production is absent or greatly decreased. (msdmanuals.com)
Optic1
  • Findings in ocular involvement include abnormal optic tract development manifested by foveal hypoplasia with decreased photoreceptors and misrouting of optic chiasmal fibers. (msdmanuals.com)
Involvement1
  • Cutaneous and ocular pathologies (ocular involvement) are both present. (msdmanuals.com)
Patients2
  • Researchers have ambiguous interpretations on how these macromelanosomes have correlation to vision loss and other eye abnormalities in patients suffering ocular albinism. (wikipedia.org)
  • Patients with OA1 may have late-onset sensorineural deafness. (msdmanuals.com)
Hearing loss2
  • Ocular albinism late onset sensorineural deafness (OASD) is a rare, X-linked recessive disease characterized by intense visual impairments, reduced retinal pigments, translucent pale-blue irises and moderately severe hearing loss from adolescence to middle-age. (wikipedia.org)
  • Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss. (medlineplus.gov)
Common form1
Vision3
  • 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). (medlineplus.gov)
  • Researchers are uncertain how these giant melanosomes are related to vision loss and other eye abnormalities in people with ocular albinism. (medlineplus.gov)
  • Affected individuals first experience night blindness, followed by reduction of the peripheral visual field and, sometimes, loss of central vision late in the course of the disease and eventually leading to blindness after several decades. (asperbio.com)
Skin1