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643 Possible Causes for Epicanthal Folds, Glaucoma, Myopia

  • Homocystinuria

    Phacolytic glaucoma is best resolved by removal of the exciting lens material.[ncbi.nlm.nih.gov] The patient also shows signs that had not been previously described: epicanthal folds, broad nasal bridge, long and flat philtrum, amimic expression and, particularly, a postural[ncbi.nlm.nih.gov] Further investigations disclosed lens subluxation in association with myopia, mild scoliosis and osteopenia.[ncbi.nlm.nih.gov]

  • Blepharoptosis - Myopia - Ectopia Lentis Syndrome

    Syndromes and diseases associated with exophthalmos, ptosis, strabismus, nystagmus, glaucoma, cataracts, uveitis and optic atrophy are discussed in detail.[books.google.com] folds AR (most common), XLR Numerous Multiple JUBERG-MARSIDI SYNDROME Ptosis, epicanthal folds, hypertelorism, upslanting palpebral fissures, exotropia, optic atrophy XLR[eyewiki.aao.org] ClinGen has not yet curated blepharoptosis-myopia-ectopia lentis syndrome.[search.clinicalgenome.org]

  • Down Syndrome

    Ophthalmological disorders Most commonly: Cataracts Refractive errors Strabismus Nystagmus Congenital glaucoma Keratoconus Gastrointestinal disorders Oesophageal atresia or[patient.info] folds, flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also Down, Down's, trisomy[merriam-webster.com] Nystagmus was related to myopia and esotropia, and to heart disease and heart operations.[dx.doi.org]

  • Ehlers Danlos Syndrome

    They also often have eye problems, like shortsightedness or glaucoma, which is related to too much pressure inside your eye.[webmd.com] Facial dysmorphism commonly affected midface/orbital areas with epicanthal folds and infraorbital creases more commonly observed in young patients.[ncbi.nlm.nih.gov] We report a 6-week-old white boy of nonconsanguineous parents who presented with bluish scleral discoloration, thin corneas, and progressive high myopia.[ncbi.nlm.nih.gov]

  • Microcornea

    DISCUSSION Congenital microcornea may result in secondary open-angle glaucoma or secondary angle-closure glaucoma.[glaucomatoday.com] Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia.[ebi.ac.uk] This disorder associated with axial myopia is an extremely rare ophthalmologic condition.[ncbi.nlm.nih.gov]

  • Stickler Syndrome

    Ocular abnormalities include: retinal detachment, glaucoma, premature cataracts, high myopia, optically empty vitreous cavities, and retinal pigmentary changes.[ncbi.nlm.nih.gov] Short stature (3rd–10th percentiles), macrocephaly (60.6 cm), bilateral epicanthal folds, midfacial hypoplasia, class 3 malocclusion, no hypermobile joints.[iovs.arvojournals.org] In the third family, all patients had a marfanoid habitus, high myopia, and mental retardation.[ncbi.nlm.nih.gov]

  • Oculodentodigital Dysplasia

    A 14-year-old girl with typical oculodentodigital syndrome had been treated for chronic glaucoma for seven years.[ncbi.nlm.nih.gov] The other common ocular findings include glaucoma, strabismus, iris atrophy, micro cornea, epicanthic folds, a narrow palpebral fissure and atrophy of the eye.[symptoma.com] Surprisingly, the patient had a normal axial length and moderate myopia on both eyes.[ncbi.nlm.nih.gov]

  • Knobloch Syndrome Type 1

    Two patients with iris transillumination had glaucoma. Fundus characteristics included abnormal collapsed vitreous, macular atrophy, and a tesselated fundus.[ncbi.nlm.nih.gov] folds, cardiac dextroversion, generalized hyperextensibility of the joints, unusual palmar creases, and unilateral duplication of the renal collecting system.[orpha.net] COL18A1 ADAMTS18 encephalocoele cutis aplasia lens subluxation vitreoretinal degeneration autozygome genetics genome-wide glaucoma ophthalmology Statistics from Altmetric.com[dx.doi.org]

  • Keratoglobus

    About 50% patients had post-PK glaucoma though grafts were clear.[ncbi.nlm.nih.gov] Epicanthal folds, blepharophimosis, and hypermetropia are sometimes present.[disorders.eyes.arizona.edu] Keratoglobus is a rare condition of bilateral corneal ectasia, which results in high myopia, irregular astigmatism, scarring, and rarely spontaneous globe rupture.[ncbi.nlm.nih.gov]

  • High Myopia-Sensorineural Deafness Syndrome

    ; and updated surgical procedures and methods, including oculoplastic, corneal, and glaucoma surgery.[books.google.de] The exam revealed megalocomea, epicanthic fold, hypertelorism, discreet global hypotonia and preserved muscle strength.[oldfiles.bjorl.org] […] deafness, cochlear, plus DFNMYP high myopia and sensorineural deafness high myopia-sensorineural deafness syndrome myopia and deafness Aruga J, Yokota N, Mikoshiba K.[ghr.nlm.nih.gov]

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