The presentation of microcornea associated with axial myopia by means of modern examination techniques. Clinical investigations. The horizontal diameter of the cornea was 8.00 mm on both sides. [ncbi.nlm.nih.gov]

CONCLUSIONS: We present a further report of the MRCS syndrome and provide evidence in support of genetic heterogeneity in this phenotype. {\circledC} 2006 by Elsevier Inc. [research.manchester.ac.uk]

The "fan-shaped cataract" observed in the present family has not been reported before. [pure.hud.ac.uk]

Case presentation: A 28-year-old woman presented with bilateral microcornea and posterior polar cataract. Her uncorrected (UDVA) and corrected (CDVA) distance visual acuities were 20/100, 20/160 and 20/80, 20/80, respectively. [smj.si.mahidol.ac.th]

• Surgical Procedure

  procedures and methods, including oculoplastic, corneal, and glaucoma surgery. [books.google.ro]

  With my concern about a prolonged procedure and the fact that she did not require an IOL, the surgical plan became apparent. [crstoday.com]

  Patient consent to treat was obtained before each surgical procedure. [eye-cataract-surgery.imedpub.com]

• Lymphedema

  Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MedGen UID: 320559 •Concept ID: C1835265 • Disease or Syndrome Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR [ncbi.nlm.nih.gov]

  […] the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding (summary by Judisch et al., 1979 ).Neurologic abnormalities are sometimes associated ( Gutmann et al., 1991 ), and lymphedema [mendelian.co]

  Elliptocytosis Alzheimer's disease 16 androgen insensitivity syndrome + Anemia, X-Linked, without Thrombocytopenia Anencephaly and Spina Bifida X-Linked angioma serpiginosum + Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema [rgd.mcw.edu]

• Congestive Heart Failure

  heart failure Abnormal pyramidal sign Feeding difficulties in infancy Intellectual disability, moderate Short metacarpal Severe short stature Hypotelorism Midface retrusion Cubitus valgus Pectus carinatum Malabsorption Taurodontia Downslanted palpebral [mendelian.co]

• Failure to Thrive

  […] to thrive in infancy Attention deficit hyperactivity disorder Decreased fetal movement Open mouth Megalocornea Congenital glaucoma Macrogyria Aqueductal stenosis Abnormal cortical gyration Buphthalmos Muscle fiber splitting Tented upper lip vermilion [mendelian.co]

  Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly (summary by Chowdhury et al., 2021). PubMed Exp Eye Res 2020 Aug;197:108118. Epub 2020 Jun 17 doi: 10.1016/j.exer.2020.108118. [ncbi.nlm.nih.gov]

• Hypertension

  A 35-year-old woman underwent diagnostic studies because of an 18-year history of paroxysmal tachycardia, hypertension, syncope, and seizures. The studies and postmortem examination failed to reveal any recognized cause for the cardiac symptoms. [jamanetwork.com]

  Patient is not a known case of diabetes mellitus, hypertension and bronchial asthma. [jemds.com]

  Egbert JE, Christiansen SP, Wright MM et al (2006) The natural history of glaucoma and ocular hypertension after pediatric cataract surgery. J AAPOS 10(1):54–57 PubMed CrossRef 53. [springermedizin.de]

  Renal expression and localization of the facilitative glucose transporters GLUT1 and GLUT12 in animal models of hypertension and diabetic nephropathy. Am J Physiol Renal Physiol. 2006; 290 (1) F205-F213 10 Mantych G J, Hageman G S, Devaskar S U. [thieme-connect.com]

  We felt that this elevation was due to a hypertensive phase sometimes encountered in the early postoperative period following the implantation of a glaucoma tube shunt. We had him restart a b.i.d. regimen of Cosopt. [glaucomatoday.com]

• Low-Set Posteriorly Rotated Ears

  posteriorly rotated ears Aplasia/Hypoplasia involving the skeletal musculature Joint stiffness Retinal atrophy Abnormal aldolase level Clitoral hypoplasia Fine hair Corneal opacity Dysphonia Brittle hair Osteoporosis Decreased antibody level in blood [mendelian.co]

• Strabismus

  In: Paediatric ophthalmology and strabismus. San Francisco: American Academy of Ophthalmology 1994;section 6, 60. 9 Pagon RA. Ocular coloboma. Surv Ophthalmol 1981; 25 :223–36. 10 Silver J, Gilbert CE, Spoerer P, Foster A. [nature.com]

  MICROPHTHALMIA, ISOLATED 6; MCOP6 Is also known as microphthalmia, posterior nonsyndromic Related symptoms: Autosomal recessive inheritance Strabismus Cataract Milia Tics SOURCES: OMIM DOID MONDO UMLS More info about MICROPHTHALMIA, ISOLATED 6; MCOP6 [mendelian.co]

  [J Pediatr Ophthalmol Strabismus. 2018;55(1):30-36.]. Copyright 2017, SLACK Incorporated. [ncbi.nlm.nih.gov]

  Given that 2316 has exotropia and 2318 shows esotropia, the strabismus is likely to be secondary to the underlying abnormality. The clinical descriptions are presented in Table 1. Figure 1. [iovs.arvojournals.org]

  [J Pediatr Ophthalmol Strabismus. 2018;55(1):30–36.] [journals.healio.com]

• Ectopia Lentis

  Ectopia lentis is the major ocular criterion. Minor ocular criteria include flat corneas, increased axial length (>23.5 mm), and iris hypoplasia with miosis. [jamanetwork.com]

  Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment. [ncbi.nlm.nih.gov]

  PXDN -associated cataracts (Congenital cataract, microcornea, and corneal opacity-CCMCO) has been described as bilateral iris hypoplasia, ectopia lentis, corectopia, ectropion uveae, and cataracts (Cheong et al. 2016. PubMed ID: 27839872). [preventiongenetics.com]

  Visual outcomes and Konradsen T, Kugelberg M, Zetterstro complications in surgery for ectopia lentis in children. J Cataract Refract Surg 2007; 33:819–824 Kumar DA, Agarwal A. Cataract surgical problem. [docksci.com]

• Heterochromia Iridis

  Other congenital diseases such as microphthalmos, microcoria, heterochromia iridis, microlentia, cataracts, retinal dysplasia, retinal detachment, anterior segment dysgenesis, acorea and proliferation of the anterior neuroectoderm [3]. [vetbook.org]

• Suggestibility

  Using a positional candidate gene approach, the authors have evidence suggestive of linkage of this disorder to a region on 11q13 within the nanophthalmos 1 (NNO1) genetic interval. [ncbi.nlm.nih.gov]

  Interestingly, the X253R mutant fully abolished the aggregatory propensity of βB1- and βA3/βB1-crystallins at high temperatures, suggesting that X253R was an aggregation-inhibition mutation of β-crystallin homomers and heteromers in dilute solutions. [biochemj.org]

  This case report describes the biometric features of a boy with isolated microcornea (the youngest and most completely described patient to the best of our knowledge) and suggests that the condition is the same entity as relative anterior microphthalmos [meajo.org]

• Psychomotor Retardation

  He had mild psychomotor retardation. His best-corrected visual acuity was finger counting at 2 m in right eye and 20/30 in left eye. Cycloplegic refraction was +2.50 Dsph/-1.75 Dcyl × 60 in right and plano in the left eye. [ojoonline.org]

  One such family has been reported.Goldberg and McKusick (1971) reported a nonconsanguineous kindred in which 4 males in 3 sibships connected through females had colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation. [findzebra.com]

  mental retardation; hypogenitalism; and obesity. [ncbi.nlm.nih.gov]

• Narrow Face

  \n\nPeople with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft. [ncbi.nlm.nih.gov]

• Broad Nasal Bridge

  Other craniofacial features may include a broad nasal bridge and low-set ears. [ncbi.nlm.nih.gov]

• Tremor

  Secondary amenorrhea Axonal degeneration Decreased motor nerve conduction velocity Postural tremor Thick cerebral cortex Long eyelashes Split hand Primary amenorrhea Peripheral demyelination Motor polyneuropathy Amenorrhea Chorea Fever Small hand Tremor [mendelian.co]

  Most affected individuals have a mild nonprogressive intellectual deficit and cerebellar involvement including ataxia, nystagmus, intention tremor, and dysmetria. All have short stature and most have subnormal weight. [ncbi.nlm.nih.gov]

• Spastic Quadriplegia

  In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually [ncbi.nlm.nih.gov]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

guidelines, discoveries in your fields of interest; be notified You are informed about innovative treatments, techniques and innovations in medicine This video is limited to doctors and other health professionals. [medtube.net]

A corneal diameter of less than 6 mm had a poor visual prognosis, whereas a corneal diameter of more than 10 mm had a good prognosis. [findzebra.com]

Prognosis The prognosis for vision depended on the phenotype of the better eye  Microphthalmos with cyst has the worst prognosis  Coloboma with microcornea and microphthalmos a poor prognosis  Coloboma with only microcornea has an intermediate prognosis [slideshare.net]

Diagnosis - Cataract microcornea syndrome Prognosis - Cataract microcornea syndrome Visual acuity after uncomplicated cataract extraction is relatively good. [checkorphan.org]

Microcornea, glaucoma, and absent frontal sinuses Specialty Medical genetics, Ophthalmology Causes Genetic mutation Prevention none Prognosis Good Frequency very rare, only 4 cases have been described in medical literature Deaths - Microcornea, glaucoma [en.wikipedia.org]

Etiology Microcornea is a congenital abnormality. Overgrowth of the anterior tips of the optic cup during eye development has been proposed to result in a smaller than normal corneal size (Gupta and Kim 2010; Waheed and Azar 2005). [link.springer.com]

Etiology There is marked genetic heterogeneity. Mutations have been described in several crystallin genes ( CRYAA, CRYBB1, CRYGD ), and in the gap junction protein alpha 8 gene ( GJA8 ). [rarediseases.info.nih.gov]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

Epidemiology To date, more than 15 families showing microcornea-cataract syndrome have been described. [rarediseases.info.nih.gov]

Pathophysiology In the normal eye, optic fissure closes 33 to 40 days after conception. [slideshare.net]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

Currently, Cataract Microcornea Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

Early cataract surgery in microcornea/microphthalmia eyes is essential to prevent amblyopia and improve visual outcomes, including stereopsis. [clinicaltrials.gov]