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152 Possible Causes for Corneal Opacity, Retinal Pigmentation, Round Face

  • Mucopolysaccharidosis

    pigment epithelium.[] Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the[] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[]

  • Mucopolysaccharidosis 2

    Abnormal retinal pigmentation and papilloedema - leading to visual impairment. Type B - mild form This usually presents later and may not be noticed until adulthood.[] Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum.[] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[]

  • Zellweger Syndrome

    pigmentation, and 50% of control fibroblast dihydroxyacetone phosphate acyltransferase activity.[] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[] Eye abnormalities and vision problems like brushfield spots, abnormal retinal pigmentation, optic disk pallor, glaucoma and cataract occur as well.[]

  • Mucopolysaccharidosis 1

    Figure 4 Retinal pigment epithelial changes in a 15-year-old patient with MPS IH/S Hurler/Scheie. A total of 13 patients with MPS IH Hurler had undergone ERGs.[] Typical symptoms are stiff joints, corneal opacities, carpal tunnel syndrome and mild skeletal changes. Aortic valve disease can be present.[] opacities, clawhand, aortic valve disease, normal stature, mild or absent intellectual impairment, and nearly normal life span, depending on cardiac complications.[]

  • Neuhauser Syndrome

    The clinical features of Refsum's disease include cerebellar ataxia and retinal dystrophy with pigment changes, bone-spicule formation, optic atrophy, and attenuated retinal[] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[] Keratoplasty operation was done for the right eye owing to central corneal opacity.[]

  • Macular Degeneration

    She presented with visual distortion in her right eye and was found to have a retinal pigment epithelial detachment (RPED) on optical coherence tomography (OCT).[] Polyps appears as round multiple heterogeneous hyperreflective structures. Figure 29. SS-OCT and en-face OCT of a patients with late AMD with geography atrophy.[] Corneal opacities Definition Corneal visual impairment encompasses a wide variety of infectious and inflammatory eye diseases that cause scarring of the cornea, the clear[]

  • Cockayne Syndrome

    The twins were deaf and blind, with optic atrophy and retinal pigmentation, while their brother had cataracts.[] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[] Cataracts and cloudiness of the cornea (corneal opacity) are common. The loss of and damage to nerves of the optic nerve, causing optic atrophy can occur.[]

  • Sclerocornea

    […] dystrophy of the retinal pigment epithelium Retinal degeneration-nanophthalmos-glaucoma syndrome Retinal dystrophy Retinal dystrophy with inner retinal dysfunction and ganglion[] Family history 22q Diagnosis Systemic findings Ocular findings Management 1 2.9 kg; 35 weeks; Male Mother – ASD Prenatal Dextrocardia, complete AV canal, secundum ASD, PDA, round[] opacity Synonyms: Congenital corneal keloid Congenital corneal keloid (disorder) Congenital corneal opacity (disorder) Congenital corneal opacity interfering with vision[]

  • Oculomotor Apraxia

    The fundus appearance is often normal but in other individuals the pigmentation is mottled, the retinal arterioles are attenuated, and the macula has a cellophane maculopathy[] Adverse effects of glucocorticoids are well known and include glucose intolerance, diabetes, easy bruising, increased infections, rounded faces, loss of calcium from bones[] Examination reveals ciliary injection with mild iritis and discrete fluffy opacities in the deep portion of the corneal stroma.[]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    Pigment Epithelium Sequencing of all coding exons of the gene Deletion and duplication analysis - 1 PRPH2 Retinitis Pigmentosa Sequencing of all coding exons of the gene[] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[] Spondyloepiphyseal dysplasia tarda, Toledo type 0 *Corneal Opacity *Dwarfism *Osteochondrodysplasias Spine/abnormalities.[]

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