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1,804 Possible Causes for Delayed Acquisition of Motor Skills, Night Blindness, Retinal Vessels Attenuated

  • Usher Syndrome Type 1J

    Indirect ophthalmoscopy revealed bilateral attenuation of retinal vessels, waxy pallor of the optic nerve head, and perivascular clumps of pigment deposition in the mid peripheral[healio.com] Type I children are born completely or severely deaf and suffer from night blindness around age 10.[raredr.com] Objective testing includes direct examination of the retina, where an ophthalmologist will find attenuated blood vessels, a waxy pallor, and clumps of dead retinal cells called[asha.org]

  • Usher Syndrome Type 1

    Objective testing includes direct examination of the retina, where an ophthalmologist will find attenuated blood vessels, a waxy pallor, and clumps of dead retinal cells called[asha.org] Retinitis pigmentosa first presents with night blindness, but progresses to tunnel vision and loss of visual acuity.[sema4genomics.com] COMMON Features of the Disorder Retinitis pigmentosa Night blindness progresses to more visual loss (e.g. peripheral vision loss) Cataracts Developmental delay Balance problems[evolvegene.com]

  • Retinitis pigmentosa 40

    vessel attenuation and waxy pallor of the optic nerve Posterior subcapsular cataracts characterized by yellowish crystalline changes in the visual axis of the posterior lens[centogene.com] 6, congenital, X-linked GPR179 Congenital stationary night blindness, type 1E GRIP1 Cryptophthalmos syndrome GRK1 Oguchi disease 2 GRM6 Congenital stationary night blindness[asperbio.com] The retinal vessels are also attenuated and some patients have mild optic atrophy.[disorders.eyes.arizona.edu]

    Missing: Delayed Acquisition of Motor Skills
  • Retinitis Pigmentosa

    vessel attenuation and waxy pallor of the optic nerve Posterior subcapsular cataracts characterized by yellowish crystalline changes in the visual axis of the posterior lens[centogene.com] The left eye of the same patient revealed typical PPRCA phenotype, with no night blindness, normal field, and normal ERG.[ncbi.nlm.nih.gov] The clinical hallmarks are abnormal fundus with bone-spicule deposits and attenuated retinal vessels, abnormal electroretinographic findings and reduced visual fields (Daiger[preventiongenetics.com]

    Missing: Delayed Acquisition of Motor Skills
  • Usher Syndrome Type 1K

    On ophthalmologic examinations, the lens and the cornea were intact, but the fundoscopic examination revealed bony spicule pigmentation with attenuated retinal vessels in[mafiadoc.com]      16 children All have two pathogenic USH mutations “Routine” eye exams did not pick up USH in any patients who were pre-symptomatic (i.e. not night blind) 9/16 had[studyslide.com] 16 childrenAll have two pathogenic USH mutationsRoutine eye exams did not pick up USH in any patients who were pre-symptomatic (i.e. not night blind)9/16 had diagnosis made[docslide.com.br]

  • Retinitis

    vessel attenuation and waxy pallor of the optic nerve Posterior subcapsular cataracts characterized by yellowish crystalline changes in the visual axis of the posterior lens[centogene.com] In young patients with the symptom of night blindness, it is important to differentiate retinitis pigmentosa from stationary night blindness.[ommbid.mhmedical.com] […] loss of retinal response, retinal atrophy, attenuation of retinal vessels, clumping of pigment, and contraction of the visual field. retinitis proli ferans , proliferating[medical-dictionary.thefreedictionary.com]

    Missing: Delayed Acquisition of Motor Skills
  • Retinitis Pigmentosa 7

    The macula looks smooth and normal; however, the retinal vessels are attenuated and there are bone spicules throughout the periphery. OS: Vertical C/D ratio is 0.0.[retinagallery.com] In young patients with the symptom of night blindness, it is important to differentiate retinitis pigmentosa from stationary night blindness.[ommbid.mhmedical.com] vessel attenuation and waxy pallor of the optic nerve Posterior subcapsular cataracts characterized by yellowish crystalline changes in the visual axis of the posterior lens[centogene.com]

    Missing: Delayed Acquisition of Motor Skills
  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    The clinical features of Refsum's disease include cerebellar ataxia and retinal dystrophy with pigment changes, bone-spicule formation, optic atrophy, and attenuated retinal[synapse.koreamed.org] Color Blindness, Deutan Night Blindness, Congenital Stationary, Type 1 Night Blindness, Congenital Stationary, Type 1B Night Blindness, Congenital Stationary, Type 2 Night[sequencing.com] blindness, deafness, ichthyosis, cardiac myopathy, hepatosplenomegaly, and increased CSF protein; dietary restriction of phytanic acid (avoiding nuts, spinach, and coffee[neupsykey.com]

  • Retinitis Pigmentosa 30

    vessel attenuation and waxy pallor of the optic nerve Posterior subcapsular cataracts characterized by yellowish crystalline changes in the visual axis of the posterior lens[centogene.com] In young patients with the symptom of night blindness, it is important to differentiate retinitis pigmentosa from stationary night blindness.[ommbid.mhmedical.com] Name Retinitis Pigmentosa 30 Synonyms MACULAR DEGENERATION, INCLUDED Classification eye, genetic Phenotypes Attenuation of retinal blood vessels ; Autosomal dominant inheritance[mousephenotype.org]

    Missing: Delayed Acquisition of Motor Skills
  • Leber Congenital Amaurosis

    The retinal findings are not specific: fundus is either normal, or only subtle retinal pigment epithelial (RPE) granularity and retinal vessel attenuation can be observed[institut-vision.org] Case 2: A 30-year-old woman, who had night blindness and poor ocular pursuit during the first year of life, exhibited severe retinal degeneration and non-recordable ERG.[ncbi.nlm.nih.gov] Severe visual impairment and night blindness were observed during infancy. We observed photophobia only in the 8-year-old patient.[ncbi.nlm.nih.gov]

    Missing: Delayed Acquisition of Motor Skills

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