Megalocornea: Causes & Reasons

Possible Causes for Megalocornea

[…] in congenital glaucoma Megalocornea with glaucoma The following code(s) above Q15.0 contain annotation back-references Annotation Back-References In this context, annotation [icd10data.com]

Diagnosis Code H40.9 Unspecified glaucoma 2016 2017 2018 2019 Billable/Specific Code childhood Q15.0 congenital Q15.0 infantile Q15.0 newborn Q15.0 Hydrophthalmos Q15.0 Keratoglobus [icd10data.com]

Megalocornea Other Buphthalmos Coloboma (Coloboma of optic nerve) Hydrophthalmos Norrie disease M: EYE anat (g/a/p)/phys/devp/prot noco/cong/tumr, epon proc, drug (S1A/1E [worldlibrary.org]

Brittle Cornea Syndrome Type 2

Megalocornea ; Myalgia ; Myopia ; Recurrent fractures ; Sclerocornea ; Umbilical hernia Associated Genes PRDM5 (Withdrawn symbols: PFM2 ) Mouse Orthologs Prdm5 (Withdrawn [mousephenotype.org]

RN1640 SINDROME CEREBRO-OCULO-FACIO-SCHELETRICA SINDROME DI PENA-SHOKEIR DI TIPO II RN0850 SINDROME CHARGE RN0940 SINDROME KABUKI NIIKAWA-KUROKI, SINDROME DI RN1830 SINDROME MEGALOCORNEA-RITARDO [retemalattierare.it]

ZELLWEGER, SINDROME DI (RN1770) SINDROME CARDIOFACCIALE DI CAYLER (RN1780) CHAR, SINDROME DI (RN1810) ESTROFIA VESCICALE (RN1820) FINE-LUBINSKY, SINDROME DI (RN1830) SINDROME MEGALOCORNEA-RITARDO [malattierare.toscana.it]

Keratoglobus

NOTE: Children should be referred for an extensive developmental workup Differential Diagnosis Simple megalocornea Megalophthalmos anterior Congenital glaucoma Keratoglobus [webeye.ophth.uiowa.edu]

Wordscope Video “Spore, birth of a game - TED Talks -” (video with English subtitles) keratoglobus | macrocornea | megalocornea keratoglobe cornea globosa | keratoglobus | [wordscope.be]

Youngson 2004, 2005 keratoglobus A rare, usually bilateral, protrusion of the cornea with general thinning, especially in the periphery. [medical-dictionary.thefreedictionary.com]

Ectopia Lentis

Name Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Synonyms - Classification developmental, eye, genetic Phenotypes Autosomal [mousephenotype.org]

Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis Loeys-Dietz syndrome + Lowry Maclean syndrome Mehta Lewis Patton Syndrome Microspherophakia + Microspherophakia and/or Megalocornea [rgd.mcw.edu]

 Associated ocular anomalies- Megalocornea, polycoria, cataract, glaucoma, retinal detachment, optic nerve hypoplasia, colobomata 8.  Pathogenesis of ectopia lentis et [slideshare.net]

Neuhauser Syndrome

Megalocornea is also a feature of Neuhäuser or megalocornea-mental retardation (MMR) syndrome, a rare condition of unknown etiology. [imperial.ac.uk]

"Orphanet: Megalocornea intellectual disability syndrome". www.orpha.net. [en.wikipedia.org]

Megalocornea and mental retardation syndrome. Am J Med Genet 1988;29:221-223. [ Links ] 4. Gronbech-Jensen M. Megalocornea and mental retardation syndrome: a new case. [scielo.br]

Melhem-Fahl Syndrome

See Isolated congenital megalocornea Megalocornea - spherophakia - secondary glaucoma Megalocornea mental retardation syndrome - See Megalocornea-intellectual disability [herenciageneticayenfermedad.blogspot.com]

[…] distal type 2b Arthrogryposis disease multiplex congenita Neuhauser syndrome Lung agenesis Winchester-Grossman disease Gaucher disease subacute Freeman-Sheldon syndrome Megalocornea [yumpu.com]

[…] microcolon intestinal hypoperistalsis syndrome Megaduodenum Megaepiphyseal dwarfism Megalencephalic leukodystrophy Megalencephaly-cystic leukodystrophy Megaloblastic anemia Megalocornea [statemaster.com]

Axenfeld-Rieger Syndrome

Slit lamp evaluation showed bilateral megalocornea, posterior embryotoxon, corectopia. [jemds.com]

The patient had megalocornea with Haab's striae in the right eye and posterior embryotoxon in both the eyes. [ncbi.nlm.nih.gov]

Bilateral prominent Schwalbe ring in the anterior chamber in a patient with Axenfeld-Rieger syndrome and megalocornea. Cornea 2007;26:379-81. [ PUBMED ] [ FULLTEXT ] 4. [ijo.in]

Ring Dermoid of Cornea

CONGENITAL CORNEAL ECTASIA Keratoglobus (discussed in Chapter 4.18) is not congenital, but corneal ectasia may be present at birth as part of a congenital anterior staphy- [slideshare.net]

Simple Megalocornea. [entokey.com]

Megalocornea is diagnosed by a corneal diameter greater than 13mm. It is most often seen in males, as it is linked to the X-chromosome. [reviewofcontactlenses.com]

Ectopia Lentis et Pupillae

Despite the frequent association with megalocornea, the patient studied had normal corneal diameters.…” Section: Discussionmentioning See 3 more Smart Citations [scite.ai]

[…] syndrome can be caused by a couple different factors including: Direct trauma to the eye, such as a ball hitting the eye Certain eye diseases such as microspherophakia and megalocornea [study.com]

 Associated ocular anomalies- Megalocornea, polycoria, cataract, glaucoma, retinal detachment, optic nerve hypoplasia, colobomata 8.  Pathogenesis of ectopia lentis et [slideshare.net]

Goldberg-Shprintzen Syndrome

Other features, such as megalocornea or urogenital anomalies, may also be present. [ncbi.nlm.nih.gov]

Individuals with the syndrome exhibit ocular (ptosis, hyperopia, or megalocornea), cardiac, urogenital (vesicoureteral reflux, multicystic renal dysplasia), and skeletal [wikidoc.org]

Other highly variable features include ocular abnormalities (e.g. hyperopia, bilateral megalocornea), congenital heart defects (such as ventricular septal defects, aortic [orpha.net]

Sclerocornea

Megalocornea 3. Sclerocornea 4. Cornea plana 5. [edurev.in]

File Size: 71 KB Related: Corneal opacity, Peters anomaly, CHED, Axenfeld-Reiger syndrome, Sclerocornea, Dermoid, mucopolysaccharidoses, Mucolipidoses, Cystinosis, Megalocornea [aao.org]

Megalocornea 3. Sclerocornea 4. Cornea plana 5. Keratectasia CONGENITAL CORNEAL ANOMALIES Page 2 1. Microcornea 2. Megalocornea 3. Sclerocornea 4. Cornea plana 5. [edurev.in]

Axenfeld-Rieger Syndrome Type 3

Absence of other corneal abnormalities, such as megalocornea, sclerocornea and corneal opacity are useful in distinguishing ARS from other anterior segment disorders. [orpha.net]

Mononen-Karnes-Senac Syndrome

Autosomal recessive inheritance Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital [pubcasefinder.dbcls.jp]

[…] dehydrogenase deficiency Medullary thyroid carcinoma Megacystis microcolon intestinal hypoperistalsis syndrome Megalencephalic leukodystrophy Megalencephaly-cystic leukodystrophy Megalocornea [mindmappedia.com]

with ectopia lentis and with or without secondary glaucoma - See Megalocornea - spherophakia - secondary glaucoma Microspherophakia with hernia Microspherophakia-metaphyseal [herenciageneticayenfermedad.blogspot.com]

Congenital Malformation of the Eye

Patients with eye anterior chamber eye disease, such as Axenfeld's syndrome, Rieger's anomaly, Peter's anomaly, iridocorneal endothelial syndrome, megalocornea, ocular hypertension [clinicaltrials.gov]

Keratoglobus does not exhibit the ocular signs associated with megalocornea, such as iris stromal hypoplasia with iris transillumination. [aao.org]

congenital with glaucoma Q150 녹내장을 동반한 거대각막 Megalocornea with glaucoma Q150 선천성 녹내장의 대안구증 Macrophthalmos in congenital glaucoma Q150 녹내장을 동반한 거대각막 Macrocornea wit glaucoma [druginfo.co.kr]

Disorder of Sex Development - Intellectual Disability Syndrome

Megalocornea may occur as an isolated finding (so-called uncomplicated megalocornea). [rarediseases.org]

Megalocornea is present at birth (congenital) and usually is bilateral. [rarediseases.org]

The more specific symptom is a distinctive eye abnormality known as megalocornea, which is the abnormal, nonprogressive enlargement of the cornea that occurs without the presence [rarediseases.org]

Malignant Hyperthermia - Arthrogryposis - Torticollis

[…] microcolon intestinal hypoperistalsis syndrome Megaduodenum Mega-epiphyseal dwarfism Megalencephalic leukodystrophy Megalencephaly-cystic leukodystrophy Megaloblastic anemia Megalocornea [en.wikipedia.org]

Megalocornea mental retardation syndrome[?] Megalocytic Interstitial Nephritis[?] Mehes syndrome[?] Mehta Lewis Patton syndrome[?] Meier Blumberg Imahorn syndrome[?] [encyclopedia.kids.net.au]

Peters Anomaly

Citation, DOI, disclosures and article data Citation: Iqbal S, Murphy A, Megalocornea. [radiopaedia.org]

We report a 9-month-old boy with major features of Neuhauser syndrome, including megalocornea, mental motor retardation, hypotonia, dysmorphic findings (high-arched palate [ncbi.nlm.nih.gov]

Genes that have been linked to sclerocornea include FOXE3, RAX, SOX2, PITX3, PAX6, and PXDN.[17] Inheritance Genetic heterogeneity Megalocornea Megalocornea is most commonly [eyewiki.aao.org]

Amaurosis-Hypertrichosis Syndrome

[…] pulverulentus GAPO syndrome Genetic macular dystrophy Glaucoma associated with neural crest cell migration anomaly Glaucoma secondary to spherophakia/ectopia lentis and megalocornea [se-atlas.de]

Genetics and Eye Findings - Fibrillin-1 - Component of extracellular microfibrils - AD - Fibrous connective tissue - Skeletal, ocular, and cardiovascular - Blue sclera - Megalocorneas [quizlet.com]

[…] pulmonary hypoplasia Anophthalmia cleft lip palate hypothalamic disorder Anophthalmia cleft palate micrognathia Anophthalmia esophageal atresia cryptorchidism Anophthalmia megalocornea [statemaster.com]

Dubowitz Syndrome

[…] very distinct characteristics and may include short palpebral fissures, telecanthus, ptosis, blepharophimosis, epicanthal folds, sparse eyebrows, microphthalmia, hyperopia, megalocornea [dubowitzsyndrome.net]

Familial Benign Flecked Retina

Leber optic atrophy Macular degeneration, age-related Macular dystrophy retinal Macular dystrophy, BEST2-related Macular dystrophy, vitelliform Mainzer Saldino syndrome Megalocornea [qlinics.com]

Macula Gyrate Atrophy Histiocytic Dermatoarthritis Hyperopia, High Iris Pigment Epithelium Anomalies Joubert Syndrome 8 Leber congenital amaurosis Macular Dystrophy, X-Linked megalocornea [familydiagnosis.com]

Microphthalmia, isolated type 9 (GDF3) Microphthalmia, isolated with coloboma type 3 (VSX2) Microphthalmia, isolated with coloboma type 6 (GDF3) Microspherophakia and/or megalocornea [oftalmic.ru]

Microcornea

Megalocornea 3. Sclerocornea 4. Cornea plana 5. [edurev.in]

Incidentally, megalocornea indicates a corneal diameter greater than 13 mm. References: Narumi Y, Nishina S, Tokimitsu M, et al. [webeye.ophth.uiowa.edu]

Myelocerebellar Disorder

[…] intestinal hypoperistalsis syndrome * Megaduodenum * Mega-epiphyseal dwarfism * Megalencephalic leukodystrophy * Megalencephaly-cystic leukodystrophy * Megaloblastic anemia * Megalocornea [en.academic.ru]

Other keratitis

Megalocornea (macrocornea); 2. Microcornea; 3. Embryotoxon; 4. Keratoconus; 5. Keratoglobus; 6. Congenital opacities. ІІ. [keratoplastika.dp.ua]

Megalocornea y distrofia en mosaico de 1a cornea. Arch. Oftal. B. Aires 39, 159 (1964) Google Scholar Megalocornea and mosaic dystrophy of the cornea. [link.springer.com]

Congenital aphakia

In the single family reported, 2 sibs had sclerocornea and one had megalocornea. [disorders.eyes.arizona.edu]

Megalocornea Photo courtesy of Robert W. [clinicaladvisor.com]

Microphthalmia And Esophageal Atresia Syndrome MCOPS3 206900 Genetic Test Registry Microphthalmia, Syndromic 5 MCOPS5 610125 Genetic Test Registry Microspherophakia And/Or Megalocornea [ukgtn.nhs.uk]

Congenital Diarrhea Type 10

Proteus-Like Syndrome - Mental Retardation - Eye Defect

MACCHIE PIGMENTARIE - IPERATTIVITA ENDOCRINA RBG020 COMPLESSO CARNEY SINDROME MMEP RNG100 ALTRE ANOMALIE CONGENITE MULTIPLE CON RITARDO MENTALE SINDROME MMR RN1830 SINDROME MEGALOCORNEA-RITARDO [malattierare.regione.veneto.it]

Radio-Digito-Facial Dysplasia

Dwarfism - Mental Retardation - Eye Abnormality

Colobomatous Macrophthalmia with Microcornea

MENTALE RN1830 SINDROME MEGALOCORNEA-RITARDO MENTALE SINDROME MELAS RN0710 DIFETTI CONGENITI DELLA FOSFORILAZIONE OSSIDATIVA MITOCONDRIALE DA ALTERAZIONI DEL DNA MITOCONDRIALE [malattierare.regione.veneto.it]

MEGALENCEFALIA-MALFORMAZIONE CAPILLARE-POLIMICROGIRIA RNG093 SINDROMI MALFORMATIVE CONGENITE GRAVI ED INVALIDANTI CARATTERIZZATE DA UN ACCRESCIMENTO PRECOCE ECCESSIVO SINDROME MEGALOCORNEA-RITARDO [malattierare.regione.veneto.it]

Hereditary Cerebral Amyloid Angiopathy

SINDROMI MALFORMATIVE CONGENITE GRAVI ED INVALIDANTI DEL CUORE E DEI GRANDI VASI ANOMALIA DI MAY-HEGGLIN RDG040 TROMBOCITOPENIE EREDITARIE ANOMALIA DI NEUHAUSER RN1830 SINDROME MEGALOCORNEA-RITARDO [malattierare.regione.veneto.it]