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13 Possible Causes for Centrocecal Scotoma, Optic Disc Pallor, Skeletal Dysplasia

  • Primary Optic Atrophy

    Differential Diagnosis Optic atrophy versus other causes of optic disc pallor: • Pallor of optic disc in partial optic atrophy must be differentiated from other causes of[slideshare.net] scotomas in the perimetry and pseudoedema of the optic disc, followed by optic atrophy.[link.springer.com] Examination of these patients shows loss of visual acuity, temporal pallor of the optic discs, centrocecal scotomas with peripheral sparing, and subtle impairments in color[en.wikipedia.org]

  • Autosomal Dominant Optic Atrophy and Cataract

    […] mild chondrodysplasia,604864 COL2A1Otospondylomegaepiphyseal dysplasia,215150 COL2A1Platyspondylic skeletal dysplasia, Torrance type,151210 COL2A1SED congenita,183900 COL2A1SMED[qgenomics.com] Optic disc appearance of OPA1 -positive two patients showing bilateral prominent temporal wedge of pallor ( upper ) and total disc pallor ( lower ). ( C ) Optic disc appearance[iovs.arvojournals.org] scotoma of variable density.[mybiosource.com]

  • Classic Autosomal Dominant Optic Atrophy

    Dysplasias, Neuroblastoma 0051265 Achondroplasia Mutation, Fetal Achondroplasia AD PCR FE, Skeletal Dysplasias 2011708 Alpha Globin ( HBA1 and HBA2 ) Sequencing and Deletion[aruplab.com] optic disc pallor, visual field and color vision defects.[doctor.am] Individuals then proceed into the atrophic phase and are usually legally blind for the rest of their lives with a permanent large centrocecal scotoma.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Deafness 28

    dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating[en.wikipedia.org] Optic Atrophy 1 Clinical Characteristics Ocular Features: This form of bilateral optic atrophy may have its onset in early childhood with optic disc pallor, loss of acuity[disorders.eyes.arizona.edu] Neuroretinal rim pallor in autosomal dominant optic neuropathy is most pronounced temporally, but usually involves the entire optic disc [ 10 ].[molvis.org]

  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    Anomalies Iridogoniodysgenesis, Type1 Iris Coloboma - Macrocephaly - Agenesis of the Corpus Callosum - Brachydactyly - Mental Retardation Iris Dysplasia - Hypertelorism -[sehat.com] , temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density ( Votruba et al., 1998 ).Some patients with mutations in the OPA1 gene may[mendelian.co] disc pallor and vascular narrowing 6 7 ; macular cysts 6 ; and horizontal retinal macular striae in association with geographic areas of pigmentary retinal epithelium disturbance[bjo.bmj.com]

  • Lethal Ataxia with Deafness and Optic Atrophy

    Primary bone dysplasia with decreased bone density Primary bone dysplasia with defective bone mineralization Primary bone dysplasia with disorganized development of skeletal[se-atlas.de] Examination of these patients shows loss of visual acuity, temporal pallor of the optic discs, centrocecal scotomas with peripheral sparing, and subtle impairments in color[en.wikipedia.org] scotoma of variable density.[genecards.org]

  • Autosomal Dominant Classic Optic Atrophy

    Dysplasias, Neuroblastoma 0051265 Achondroplasia Mutation, Fetal Achondroplasia AD PCR FE, Skeletal Dysplasias 0081110 Carnitine Panel Acylcarnitine CARNPAN Fatty Acid Oxidation[aruplab.com] Differential Diagnosis Optic atrophy versus other causes of optic disc pallor: • Pallor of optic disc in partial optic atrophy must be differentiated from other causes of[slideshare.net] Humphrey 30-2 visual fields suggested centrocecal scotomas in both eyes. Figure 3.[healio.com]

  • Autosomal Dominant Optic Atrophy - Hearing Loss - Peripheral Neuropathy Syndrome

    […] system Pes cavus Clinodactyly Difficulty walking Mild microcephaly Single transverse palmar crease Delayed myelination Hip dysplasia Cerebellar vermis hypoplasia Stereotypy[mendelian.co] ., decreased visual acuity during the first 2 decades of life, temporal or global optic disc pallor, and absence of other neurological or ophthalmological diseases that could[collections.lib.utah.edu] scotoma of variable density.[mybiosource.com]

  • Ataxia - Tapetoretinal Degeneration Syndrome

    Some patients have some degree of skeletal dysplasia and many individuals are short in stature.[disorders.eyes.arizona.edu] , temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density ( Votruba et al., 1998 ).Some patients with mutations in the OPA1 gene may[mendelian.co] Attenuated retinal vessels, waxy optic disc pallor, cystoid macular edema and fine pigmented vitreous cells may be found.[atlasrleye.com]

  • Retinal Dystrophy

    A thorough clinical evaluation of the patients, with whole skeleton X-ray, metabolic assessment and liver ultrasound failed to reveal signs of skeletal dysplasia, metabolic[ncbi.nlm.nih.gov] F igure 2. ( A ) Patient IV:2: fundus photograph showing bilateral RPE mottling and temporal optic disc pallor. ( B ) Patient IV:2: fundus autofluorescence imaging revealed[iovs.arvojournals.org] Small central and centrocecal scotomas can be demonstrated.[disorders.eyes.arizona.edu]

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