The lens opacities may be present at birth or found soon thereafter. In 1 family with 5 affected sibs membranous cataracts were present along with corneal opacities, microcornea and nystagmus. [disorders.eyes.arizona.edu]

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]

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

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]

• Broad Eyebrows

  Mowat-Wilson syndrome MedGen UID: 341067 •Concept ID: C1856113 • Disease or Syndrome Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent [ncbi.nlm.nih.gov]

• Dry, Scaly Skin

  Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities. [ncbi.nlm.nih.gov]

• Foot Deformity

  Secondary foot deformities and scoliosis are common. Sensory neuropathy develops after age ten years. [ncbi.nlm.nih.gov]

• Long 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]

• Mild Cognitive Impairment

  In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). [ncbi.nlm.nih.gov]

• Poor Coordination

  Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities. [ncbi.nlm.nih.gov]

• Liver Biopsy

  The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon [ncbi.nlm.nih.gov]

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

(September 2017) Treatment[edit] This section is empty. You can help by adding to it. [en.wikipedia.org]

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]

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]

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

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]

The pars plana insertion also has the advantage of preventing cornea-tube touch, which may lead to corneal edema or decompensation. [glaucomatoday.com]

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]

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