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Microcornea

Microcorneas


Presentation

  • 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.[ncbi.nlm.nih.gov]
  • This mutation was present in all seven individuals with OAG and microcornea and the individual with microcornea alone, but not in the seven unaffected relatives in the family.[ncbi.nlm.nih.gov]
  • Among them, eight patients presented with normal iris, one had aniridia, and different severities of iris hypoplasia were detected in the rest.[ncbi.nlm.nih.gov]
  • Four cases of aniridia associated with subluxated lenses and microcornea are presented. The triad occurred in both eyes of the 4 affected members in one Ndebele family (one of the South African Negro tribes).[ncbi.nlm.nih.gov]
Italian
  • We report on the occurrence of microcornea, coloboma, and macrophthalmia in 4 generations of an Italian family. The patients had no additional physical anomalies, were of normal intelligence, and had a normal karyotype.[ncbi.nlm.nih.gov]
Fishing
  • […] developed variable lens and coloboma phenotypes: mab21l2Q48Sfs*5 embryos demonstrated severe lens and retinal defects with complete lethality while mab21l2R51_F52del mutants displayed a milder lens phenotype and severe coloboma with a small number of fish[ncbi.nlm.nih.gov]
Recurrent Respiratory Infections
  • respiratory infections Joint hypermobility Knee flexion contracture Misalignment of teeth Thoracic scoliosis Abnormality of the antihelix Prematurely aged appearance Tracheomalacia Ulnar deviation of finger Metatarsus adductus Abnormality of the hand[mendelian.co]
Joint Stiffness
  • Trichorrhexis nodosa Renal dysplasia Long philtrum Elevated serum creatine phosphokinase Severe global developmental delay Congenital muscular dystrophy Coloboma Low-set, posteriorly rotated ears Aplasia/Hypoplasia involving the skeletal musculature Joint[mendelian.co]
Sparse Eyebrows
  • Ptosis, microcornea, congenital cataracts, sparse eyebrows, and strabismus are usually present. Epicanthal folds are often seen. Systemic Features: Psychomotor development is severely delayed and with delay or absence of milestones.[disorders.eyes.arizona.edu]
Dry Hair
  • hair Abnormality of the nose Abnormal cortical bone morphology Narrow nasal bridge Short hallux Tooth abscess Abnormality iris morphology Median cleft lip Spontaneous abortion Congenital contracture Cephalocele Anophthalmia Hypoplasia of the brainstem[mendelian.co]
Periorbital Fullness
  • They both exhibited facial dysmorphism, including prominent forehead, periorbital fullness, long eyelashes, epicanthus, and long and prominent philtrum, and both had unilateral strabismus.[findzebra.com]
Round Face
  • Causes - Microcornea- glaucoma- and absent frontal sinuses Other Possible Causes of these Symptoms * Flat face * Glaucoma * Impaired vision * Round face * Small corneas * Thickened skin on palms * Thickened skin on soles Prevention - Microcornea- glaucoma[checkorphan.org]
  • face Triangular face Exotropia Spina bifida occulta Stroke Prolonged neonatal jaundice Peripheral arterial stenosis Intrahepatic cholestasis Thyroid carcinoma Posterior embryotoxon Hepatocellular carcinoma Pulmonary artery stenosis Dilatation of the[mendelian.co]
Clitoral Hypoplasia
  • hypoplasia Fine hair Corneal opacity Dysphonia Brittle hair Osteoporosis Decreased antibody level in blood Bilateral cleft lip Sleep disturbance Self-injurious behavior Meningoencephalocele Failure to thrive in infancy Attention deficit hyperactivity[mendelian.co]
Neglect
  • Corneal diameter is often a neglected parameter in the current environment of readily available empirical designs.[clspectrum.com]
  • These changes may possibly be neglected or undetected, and therefore, the patients with such changes may mimic primary glaucoma. In either case, variants in these genes are possibly risk factors for primary and secondary glaucoma.[spandidos-publications.com]
Pendular Nystagmus
  • nystagmus High myopia Chorioretinal coloboma Macular atrophy Scleral staphyloma Posterior lenticonus If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Nevus[mendelian.co]
  • nystagmus Patent ductus arteriosus Strabismus Pica Anterior polar cataract Retinal degeneration Retinal fold Intellectual disability Retinal detachment Polar cataract Lamellar cataract Pulverulent cataract Subcapsular cataract Capsular cataract Sutural[mendelian.co]
  • Additional features included ptosis, pendular nystagmus, esotropia, simple and anteverted ears, and diastema of the incisors.[findzebra.com]
Delayed Speech and Language Development
  • speech and language development Hypertonia Abnormal levels of creatine kinase in blood Babinski sign Hyperactive deep tendon reflexes Retinal detachment Wide nasal bridge Muscular dystrophy Hypoplastic labia minora Abnormal lactate dehydrogenase activity[mendelian.co]
Hand Tremor
  • […] 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[mendelian.co]
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]

Treatment

  • Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]
  • We report a case of an endoscope-assisted vitrectomy for the treatment of retinal detachment associated with microcornea in a normal size globe. A 26-year-old Japanese man was referred after complaining of visual acuity loss OD.[ncbi.nlm.nih.gov]
  • Treatment Treatment Options: Treatment is supportive. Low vision aids may be helpful.[disorders.eyes.arizona.edu]

Prognosis

  • 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]
  • Diagnosis - Cataract microcornea syndrome Prognosis - Cataract microcornea syndrome Visual acuity after uncomplicated cataract extraction is relatively good.[checkorphan.org]
  • Diagnosis - Microcornea- glaucoma- and absent frontal sinuses These home medical tests may be relevant to Microcornea - glaucoma - absent frontal sinuses: * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests Prognosis - Microcornea[checkorphan.org]
  • Prognosis Visual acuity after uncomplicated cataract extraction is relatively good. Last updated: 10/25/2007 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person.[rarediseases.info.nih.gov]

Etiology

  • 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]
  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

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

Prevention

  • 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]
  • Content covers all details of pediatric cataracts and surgical techniques to treat and prevent visual impairment. Readers explore patient work-up, diagnosis, surgical techniques, and potential complications.[books.google.de]
  • Prevention - Cataract microcornea syndrome Not supplied. Diagnosis - Cataract microcornea syndrome Prognosis - Cataract microcornea syndrome Visual acuity after uncomplicated cataract extraction is relatively good.[checkorphan.org]
  • Causes - Microcornea- glaucoma- and absent frontal sinuses Other Possible Causes of these Symptoms * Flat face * Glaucoma * Impaired vision * Round face * Small corneas * Thickened skin on palms * Thickened skin on soles Prevention - Microcornea- glaucoma[checkorphan.org]

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