Don’t fight Lenz microphthalmia syndrome alone.Find your community on the free RareGuru App.
Lenz microphthalmia syndrome is one of a group of genetic disorders known
as syndromic microphthalmia. These conditions involve abnormal development of
the eyes and several other parts of the body. Eye symptoms may include
underdeveloped (small)or absent eyes, clouding of the lens (cataracts),
uncontrolled eye movements (nystagmus),a gap or split in structures that make
up the eye (coloboma)
and glaucoma. These symptoms may affect one or both eyes and may cause vision
loss or blindness. Other signs and symptoms may include abnormalities of the
ears, teeth, hands, skeleton, urinary system, brain and heart. Around 60% of
people with this condition have delayed development or intellectual disability
ranging from mild to severe. There are at least 10 different types of
syndromic microphthalmia that are caused by mutations in different genes. Most
cases of Lenz microphthalmia are caised by mutations of the
BCOR gene and are inherited in an
X-linked recessive pattern. Other forms of syndromic microphthalmia are
inherited in different patterns depending on the gene involved. There is no
specific treatment for Lenz microphthalmia, and the long term outlook is based
on the symptoms.
Source: GARD Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!