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71 Possible Causes for Neuronal Ceroid Lipofuscinosis 5, Optic Disc Pallor

  • Optic Atrophy

    CONCLUSIONS: Deeply buried ODD may be associated with NAION causing irreversible visual loss and optic disc pallor, a condition easily mistaken for atypical ON.[ncbi.nlm.nih.gov] […] field defects and optic disc pallor.[ncbi.nlm.nih.gov] The histopathological hallmark of DOA is the primary degeneration of retinal ganglion cells, preferentially in the papillomacular bundle, which results temporal optic disc[ncbi.nlm.nih.gov]

  • Neuronal Ceroid Lipofuscinosis

    Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population. J Child Neurol. 26:625-629.[preventiongenetics.com] Early changes include defective macular light reflex and optic disc pallor followed by attenuation of vessels, pigmentary retinal changes, degeneration of macula and optic[ncbi.nlm.nih.gov] Defects in CLN5 are the cause of neuronal ceroid lipofuscinosis type 5 (CLN5), also known as Finnish variant late-infantile neuronal ceroid lipofuscinosis (vLINCL).[ebi.ac.uk]

  • Neuronal Ceroid Lipofuscinosis 2

    1.0 disc diameter from fovea Periphery - pigmentary changes may be present 5 Optic Nerve - severely pallor Severe retinal thinning with generalized loss of photoreceptors[journals.plos.org] Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease is a topic covered in the 5-Minute Clinical Consult .[unboundmedicine.com] […] infantile, variant 2.88611 CLN5 ceroid-lipofuscinosis, neuronal 5 2.83348 CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 2.43927 MFSD8[amp.pharm.mssm.edu]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1H

    5 Ceroid Lipofuscinosis Neuronal 14 2 Ceroid Lipofuscinosis Neuronal 2 6 Ceroid Lipofuscinosis Neuronal 3 6 Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive 4 Ceroid[preventiongenetics.com] Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Myopia and Optic disc pallor, related diseases and genetic[mendelian.co] Lipofuscinosis Neuronal 4B Autosomal Dominant 3 Ceroid Lipofuscinosis Neuronal 5 6 Ceroid Lipofuscinosis Neuronal 6 6 Ceroid Lipofuscinosis Neuronal 7 6 Ceroid Lipofuscinosis[preventiongenetics.com]

  • Senior Loken Syndrome

    […] renal, with ocular involvement 248190 CLN3 16p11.2 Ceroid lipofuscinosis, neuronal, 3 204200 CLN5 13q22.3 Ceroid lipofuscinosis, neuronal, 5 256731 CLN6 15q23 Ceroid lipofuscinosis[institutobernabeu.com] Leber congenital amaurosis is a severe retinal dystrophy leading to blindness during infancy, diffuse atypical pigmentation of the retina, nystagmus, and optic disc pallor[symptoma.com] Bone spicule pigmentation can be seen in the periphery, the retinal vessels are attenuated, the ERG is undetectable, and there may be temporal pallor of the optic discs.[disorders.eyes.arizona.edu]

  • Inherited Congenital Spastic Tetraplegia

    lipofuscinosis, neuronal 4, Parry, Kufs disease, DNM1 Epileptic encephalopathy, early infantile DOCK7 Epilepitic encephalopathy DPYD 5-fluorouracil toxicity EARS2 Combined[genda.com.ar] Polyneuropathy Urinary incontinence Bilateral sensorineural hearing impairment Abdominal distention Optic disc pallor Peripheral demyelination Frequent falls Generalized[mendelian.co] -phosphate oxidase deficiency POLR3A Leukodystrophy, hypomyelinating POLR3B Leukodystrophy, hypomyelinating PPT1 Ceroid lipofuscinosis, neuronal PRICKLE1 Epilepsy, progressive[genda.com.ar]

  • Combined Oxidative Phosphorylation Defect Type 8

    Fundoscopic examination reveals temporal pallor of the optic disc.[neuropathology-web.org] , 5 [MIM: 256731] CLN6 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset [MIM: 204300] CLN3 Ceroid lipofuscinosis, neuronal, 3 [MIM: 204200] GRN Ceroid lipofuscinosis[compbio.charite.de] 5 Ceroid Lipofuscinosis Neuronal 14 2 Ceroid Lipofuscinosis Neuronal 2 6 Ceroid Lipofuscinosis Neuronal 3 6 Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive 4 Ceroid[preventiongenetics.com]

  • Combined Oxidative Phosphorylation Defect Type 14

    Fundoscopic examination reveals temporal pallor of the optic disc.[neuropathology-web.org] 5 Ceroid Lipofuscinosis Neuronal 14 2 Ceroid Lipofuscinosis Neuronal 2 6 Ceroid Lipofuscinosis Neuronal 3 6 Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive 4 Ceroid[preventiongenetics.com] Lipofuscinosis Neuronal 4B Autosomal Dominant 3 Ceroid Lipofuscinosis Neuronal 5 6 Ceroid Lipofuscinosis Neuronal 6 6 Ceroid Lipofuscinosis Neuronal 7 6 Ceroid Lipofuscinosis[preventiongenetics.com]

  • Kaufman Oculocerebrofacial Syndrome

    lipofuscinosis, neuronal 4, Parry, Kufs disease, DNM1 Epileptic encephalopathy, early infantile DOCK7 Epilepitic encephalopathy DPYD 5-fluorouracil toxicity EARS2 Combined[genda.com.ar] disc pallor 0000543 Ovoid vertebral bodies 0003300 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Single transverse palmar crease 0000954 Sparse and[rarediseases.info.nih.gov] disc pallor Not very common - Between 30% and 50% cases Microdontia Commonly - More than 50% cases Specific learning disability Not very common - Between 30% and 50% cases[mendelian.co]

  • Goldmann-Favre Syndrome

    ceroid lipofuscinosis, NCL Batten disease is a fatal, inherited disease of the nervous system that typically begins in childhood.[checkrare.com] disc pallor.[iovs.arvojournals.org] […] of the optic disc and attenuation of the retinal vessels.[healio.com]

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