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40 Possible Causes for Hypopigmented Ocular Fundus

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  • Waardenburg Syndrome, Type 1

    PAX3 Blocking Peptide, specific for GT41025 PAX3 is a member of the paired box (PAX) family of transcription factors. It is a critical factor for the proper formation of the mammalian nervous, cardiovascular, and muscular systems. Mutations in Pax3 resulting in complete loss of function have provided important[…][neuromics.com]

  • Tietz Syndrome

    Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and complete penetrance make this syndrome distinct among syndromes with pigmentary anomalies and deafness, which characteristically[…][ncbi.nlm.nih.gov]

  • Waardenburg Syndrome Type 2E

    ; Hypopigmented skin patches ; Hypoplasia of the iris ; Hypoplasia of the semicircular canal ; Intellectual disability ; Muscular hypotonia of the trunk ; Nystagmus ; Ocular[mousephenotype.org] […] hypomyelination ; Dilatation ; Dilated vestibule of the inner ear ; Global developmental delay ; Heterochromia iridis ; Heterogeneous ; Hypertonia ; Hypopigmentation of the fundus[mousephenotype.org]

  • Åland Islands Eye Disease

    The fundus is hypopigmented and the fovea is incompletely developed. The hypopigmentation is most pronounced in the posterior pole and peripapillary region.[disorders.eyes.arizona.edu] Clinical Characteristics Ocular Features: This is an X-linked disorder in which males have a variety of ocular defects.[disorders.eyes.arizona.edu]

  • Oto-Facio-Osseous Gonadal Syndrome

    ocular fundus, white forelock, premature greying, and hypopigmented skin lesions.[biomeddefine.com] […] nasal root , round or square tip of nose , hypoplastic alae, smooth philtrum, bushy eyebrows with synophrys, sensorineural deafness, heterochromia or hypoisochromia iridis, hypopigmented[biomeddefine.com]

  • Ocular Albinism

    The fundus of female carriers showed pigmented streaks alternating with hypopigmented streaks.[ncbi.nlm.nih.gov] Ocular findings include iris translucency, foveal hypoplasia, hypopigmentation of the fundus and excessive crossing of the nerves from the eye to the brain.[orpha.net] These results allowed us to expand the spectrum of mutations in GPR143 and phenotypes associated with ocular albinism.[ncbi.nlm.nih.gov]

  • Albinism

    The fundus of female carriers showed pigmented streaks alternating with hypopigmented streaks.[ncbi.nlm.nih.gov] Ocular findings include iris translucency, foveal hypoplasia, hypopigmentation of the fundus and excessive crossing of the nerves from the eye to the brain.[orpha.net] The fundus is hypopigmented. Systemic Features: The hair is golden-colored and the skin is described as white.[disorders.eyes.arizona.edu]

  • Blindness - Scoliosis - Arachnodactyly Syndrome

    The fundus is hypopigmented and the fovea is incompletely developed. The hypopigmentation is most pronounced in the posterior pole and peripapillary region.[disorders.eyes.arizona.edu] Aland Island Eye Disease Clinical Characteristics Ocular Features: This is an X-linked disorder in which males have a variety of ocular defects.[disorders.eyes.arizona.edu]

  • X-Linked Recessive Ocular Albinism

    Ocular findings include iris translucency, foveal hypoplasia, hypopigmentation of the fundus and excessive crossing of the nerves from the eye to the brain.[orpha.net] A diagnosis of ocular albinism (OA) is probable in the presence of infantile nystagmus, iris translucency, substantial hypopigmentation of the ocular fundus periphery in males[ncbi.nlm.nih.gov] Some males have irregular hypopigmented spots on the extremities, but they escape clinical notice. Carrier women, in the vast majority of cases, are asymptomatic.[orpha.net]

  • Pontocerebellar Hypoplasia Type 1B

    Vici Syndrome Clinical Characteristics Ocular Features: Congenital cataracts, both unilateral and bilateral are common. The fundus appears hypopigmented.[disorders.eyes.arizona.edu] The fundus is hypopigmented. Systemic Features: The hair is golden-colored and the skin is described as white.[disorders.eyes.arizona.edu] Albinism, Oculocutaneous, Type V Clinical Characteristics Ocular Features: The phenotype in the two families studied includes photophobia, nystagmus, foveal hypoplasia and[disorders.eyes.arizona.edu]

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