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

  • Mucopolysaccharidosis

    pigment epithelium.[ncbi.nlm.nih.gov] Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the[ncbi.nlm.nih.gov] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd9data.com]

  • 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.[patient.info] Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum.[emedicine.medscape.com] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com]

  • Zellweger Syndrome

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

  • 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.[nature.com] Typical symptoms are stiff joints, corneal opacities, carpal tunnel syndrome and mild skeletal changes. Aortic valve disease can be present.[orpha.net] opacities, clawhand, aortic valve disease, normal stature, mild or absent intellectual impairment, and nearly normal life span, depending on cardiac complications.[icd10data.com]

  • 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[synapse.koreamed.org] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] Keratoplasty operation was done for the right eye owing to central corneal opacity.[ncbi.nlm.nih.gov]

  • 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).[ncbi.nlm.nih.gov] 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.[amdbook.org] Corneal opacities Definition Corneal visual impairment encompasses a wide variety of infectious and inflammatory eye diseases that cause scarring of the cornea, the clear[who.int]

  • Cockayne Syndrome

    The twins were deaf and blind, with optic atrophy and retinal pigmentation, while their brother had cataracts.[onlinelibrary.wiley.com] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] 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.[en.wikipedia.org]

  • Sclerocornea

    […] dystrophy of the retinal pigment epithelium Retinal degeneration-nanophthalmos-glaucoma syndrome Retinal dystrophy Retinal dystrophy with inner retinal dysfunction and ganglion[se-atlas.de] 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[ncbi.nlm.nih.gov] opacity Synonyms: Congenital corneal keloid Congenital corneal keloid (disorder) Congenital corneal opacity (disorder) Congenital corneal opacity interfering with vision[averbis.com]

  • 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[disorders.eyes.arizona.edu] Adverse effects of glucocorticoids are well known and include glucose intolerance, diabetes, easy bruising, increased infections, rounded faces, loss of calcium from bones[vasculitisfoundation.org] Examination reveals ciliary injection with mild iritis and discrete fluffy opacities in the deep portion of the corneal stroma.[pubs.sciepub.com]

  • 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[cegat.de] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org] Spondyloepiphyseal dysplasia tarda, Toledo type 0 *Corneal Opacity *Dwarfism *Osteochondrodysplasias Spine/abnormalities.[reference.md]

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