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620 Possible Causes for Cataract, Retinal Degeneration, Round Face

  • Mucopolysaccharidosis

    degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com] Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life.[icd9data.com] Corneal clouding was mentioned as another symptom characteristic of MPS and may be associated with glaucoma, retinal degeneration, and optic nerve swelling with subsequent[symptoma.com]

  • Pseudohypoparathyroidism

    PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[symptoma.com] Therefore, the cataract surgeon should be aware of these conditions before removing the lens.[ncbi.nlm.nih.gov] Corneal opacities, macular degeneration, nystagmus, anisocoria, papilloedema, tortuosity of retinal vessels and microphthalmia have also been reported 8, 185, 186, 187, 188[doi.org]

  • Kniest Dysplasia

    The cataract could also develop as a posteriorcapsular opacity and progress to a total cataract.[jamanetwork.com] The disease also causes ocular abnormalities, such as retinopathy, vitreoretinal degeneration, cataract, glaucoma, retinal detachment, myopia.[symptoma.com] face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[rarediseases.info.nih.gov]

  • Laurence Moon Syndrome

    Especially for Macular degeneration • Glaucoma • Stargardt’s Syndrome • Retinal Detachment • Optic Neuritis • Diabetic Retinopathy • Retinitis Pigmentosa • Optic Nerve Atrophy • Cataracts[pinterest.cl] Laurence-Moon-Biedl syndrome A rare genetic disorder featuring mental retardation, extra toes or fingers, and a retinal degeneration, RETINITIS PIGMENTOSA, that may progress[medical-dictionary.thefreedictionary.com] Adiposity was particularly marked on the face, abdomen, chest and thighs mostly of feminine type as seen in Frohlich's syndrome.[ijo.in]

  • Mucopolysaccharidosis 2

    […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] Posterior Fabry cataract is best observed by slit-lamp examination using retroillumination.[touchophthalmology.com] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[symptoma.com]

  • Congenital Muscular Dystrophy

    Clinical Characteristics Ocular Features: Cataracts have been diagnosed by 6 months of age and may be congenital in origin. Several patients have had strabismus.[disorders.eyes.arizona.edu] The eyes presented with severe myopia and retinal dysplasia.[doi.org] KEYWORDS: INPP5K; cognitive impairment; congenital muscular dystrophy; early cataracts; phosphoinositide phosphatase[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Model: Print Cited Medium: Print NLM ISO Abbreviation: Sem Hop Subsets: OLDMEDLINE 79 Transliterated Title: Polydystrophie de Hürler chez un prématuré; association d'une cataracte[aggr.ukm.um.si] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[medicinenet.com] […] loss-severe developmental delay syndrome Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Congenital cataract-progressive muscular hypotonia-hearing[se-atlas.de]

  • Cockayne Syndrome

    Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] To describe cataracts in classic and early onset Cockayne syndrome (CS).[ncbi.nlm.nih.gov] A sun-sensitive boy (XP20BE) who had severe symptoms of CS, with dwarfism, microcephaly, retinal degeneration, and mental impairment, had XP-type pigmentation and died at[ncbi.nlm.nih.gov]

  • Stickler Syndrome

    Most also have a characteristic face with flat cheekbones.[dbproject.mn.org] Ocular abnormalities include: retinal detachment, glaucoma, premature cataracts, high myopia, optically empty vitreous cavities, and retinal pigmentary changes.[ncbi.nlm.nih.gov] The ocular findings, frequently bilateral, consisted of radial perivascular retinal degeneration (RPRD) (100%), vitreous syneresis (100%), high myopia (76%), retinal detachment[ncbi.nlm.nih.gov]

  • Macular Degeneration

    This is a cataract.[smart-publications.com] The Argus II has already been tested and approved in the United States and Europe for individuals with Retinitis Pigmentosa (RP) and Outer Retinal Degeneration, respectively[businesswire.com] 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]

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