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28 Possible Causes for Hypoplastic Pons, Microphthalmos, Myopia

  • Congenital Muscular Dystrophy

    Magnetic resonance imaging of the brain at 3.5 years of age showed increased T2 signal from supratentorial and infratentorial white matter, a hypoplastic pons and subcortical[ncbi.nlm.nih.gov] […] abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases, retinal detachment and abnormally small eyes (microphthalmos[rarediseases.org] Compared to WWS patients, these patients have milder structural brain abnormalities, and eye abnormalities were absent, except for myopia in some cases.[ncbi.nlm.nih.gov]

  • Congenital Cystic Eyeball

    The pons is hypoplastic and has a dorsal midline cleft with absence of the bulging contour of facial colliculi ( 69 ).[pubs.rsna.org] Microphthalmos precluded accurate tonometry.[nature.com] Some anticonvulsants are associated with a number of abnormalities, including early-onset myopia and strabismus.[patient.info]

  • Congenital Cataract

    All the other patients had a moderately hypoplastic pons, associated with hyperintense corticospinal tracts in patient 6 and hyperintense transverse pontine fibers in patient[ajnr.org] […] short term of cataract surgery on microphthalmic eyes, in this prospective observational study we evaluated the long-term impact of bilateral cataract surgery on eyes with microphthalmos[clinicaltrials.gov] Unplanned IOL exchange or removal for high myopia was required in 3 primary group eyes and 1 secondary group eye.[ncbi.nlm.nih.gov]

  • Uveal Coloboma - Cleft Lip and Palate - Intellectual Disability

    Mega cisterna magna, hypoplastic pons, and cerebellar vermis were compatible with posterior cranial fossa malformation ( Fig 3 ).[hkmj.org] MICROPHTHALMIA, SYNDROMIC 13; MCOPS13 Is also known as maine microphthalmos, colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation;x-linked[mendelian.co] […] macroorchidism - typically only in MALES Hallermann Streif Syndrome - pointed nose - small eyes - "bird like" facies - often have ASD - upper limb defects (3 thumb joints) - myopia[quizlet.com]

  • Hypomyelinating Leukodystrophy Type 5

    All the other patients had a moderately hypoplastic pons, associated with hyperintense corticospinal tracts in patient 6 and hyperintense transverse pontine fibers in patient[ajnr.org] Q10.5 Congenital stenosis and stricture of lacrimal duct Q10.6 Other congenital malformations of lacrimal apparatus Q10.7 Congenital malformation of orbit Q11 Anophthalmos, microphthalmos[icd10data.com] Stickler syndrome type 2 AD/AR 34 94 COL18A1 Knobloch syndrome AR 27 31 COL2A1 Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia[blueprintgenetics.com]

  • Autosomal Dominant Larsen Syndrome

    Brain imaging reveals coarse pachygyria, polymicrogyria, and dilated ventricles with hypoplastic corpus callosum and pons. Cerebellar hypoplasia was found in one child.[disorders.eyes.arizona.edu] Microphthalmos with a cyst (6% of eyes), simple microphthalmos (39% of eyes), and microcornea (84% of eyes) are frequently associated.[disorders.eyes.arizona.edu] Based on these findings, it was suggested that GZF1 mutations cause Larsen syndrome with myopia and articular involvement.[cags.org.ae]

  • Autosomal Recessive Congenital Cataract 5

    All the other patients had a moderately hypoplastic pons, associated with hyperintense corticospinal tracts in patient 6 and hyperintense transverse pontine fibers in patient[ajnr.org] Microphthalmos is usually moderate, cornea is clear, anterior chamber is shallow. The lens may be clear or cataractic.[institut-vision.org] Different pathologies, such as nystagmus, diabetes, myopia and hypertension, were found to be associated with CC patients.[jpma.org.pk]

  • Optic Atrophy-Intellectual Disability Syndrome

    Note the hypoplastic pons, midbrain tegmentum, and cerebellar vermis with normal appearance of the corpus callosum.[ajnr.org] […] keratitis XLR MBTPS2 #308205 INCONTINENTIA PIGMENTI (BLOCH-SULZBERGER SYNDROME) Retinal vascular proliferation, retinal detachment, strabismus, optic atrophy, cataract, microphthalmos[eyewiki.aao.org] MT-TH MELAS MT-TL1 MELAS MT-TV MELAS MERTK Retinitis pigmentosa MFN2 dominant optic atrophy with neuropathy and myopathy; dominant Charcot-Marie-Tooth disease MFRP recessive microphthalmos[molecularvisionlab.com]

  • Congenital Merosin-Positive Muscular Dystrophy

    […] midbrain, vermian hypoplasia /- cephalocele Described features in general include: cobblestone brain myelination defects Z-shaped brainstem/hypoplastic vermis ventriculomegaly[radiopaedia.org] […] abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases, retinal detachment and abnormally small eyes (microphthalmos[rarediseases.org] Severe visual impairment is present caused by severe myopia, retinal dysplasia, cataracts, and optic atrophy.[academlib.com]

  • Cranial Meningocele

    Most severe form, is usually incompatible with life Chiari type IV malformation : Hypoplastic brainstem and cerebellum.[sites.google.com] Research of Meningocele - Cranial has been linked to Meningocele, Congenital Cerebral Hernia, Hydrocephalus, Microphthalmos, Cleft Palate.[novusbio.com] Knobloch syndrome (OMIM 267750) is characterized by severe myopia ,vitreoreti-nal degeneration with retinal detachment, and occipital cephalocele (Knobloch and Layer 1971)[rrnursingschool.biz]

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