Microphthalmia

"clinical spectrum of females with hccs mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (mls) syndrome.", by van Rahden VA, Rau I, Fuchs S, Kosyna FK, de Almeida HL, Fryssira H, Isidor B, Jauch A, Joubert M, Lachmeijer AM, Zweier C, Moog U, Kutsche K. F4: Photographs of the six patients with MLS syndrome and a heterozygous HCCS mutation or Xp22 monosomy. A and B. Patient 2 died at the age of 4 months. She presented with microphthalmia and sclerocornea...

Microphthalmia is an eye irregularity that develops prior to birth. In some affected individuals, the eyeball may seem totally missing out on; however, even in these cases some remaining eye tissue is normally present. Such severe microphthalmia should be differentiated from another problem called anophthalmia, in which no eyeball forms whatsoever. Microphthalmia might or might not lead to substantial vision loss. People with microphthalmia might additionally have a problem called coloboma. Colobomas are missing items of tissue in frameworks that create the eye. People with microphthalmia might have other eye problems, consisting of clouding of the lens of the eye and a narrowed opening of the eye. Between one-third and half of affected people have microphthalmia as part of a disorder that influences other organs and cells in the body.

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

** If you believe that content on the Plex is summarised improperly, please, contact us, and we will get rid of it quickly; please, send an email with a brief explanation.