syndromic microphthalmia 9

Vision Problems and Blindness

Syndromic microphthalmia can cause significant vision problems, including blindness. The condition is characterized by the underdevelopment or absence of one or both eyeballs, which can lead to severe visual impairment.

• Small Eye Sockets: Microphthalmia can result in small eye sockets, making it difficult for the eyes to fit properly.
• Vision Problems: The condition can cause vision problems, including blurred vision, double vision, and loss of peripheral vision.
• Blindness: In severe cases, microphthalmia can lead to complete blindness.

According to [9], microphthalmia is a rare eye condition that can cause significant visual impairment. The condition's impact on vision can vary depending on the severity of the underdevelopment or absence of the eyeball.

References: [1] - Not relevant [2] - Not relevant [3] - Not relevant [4] - Not relevant [5] - Not directly relevant, but mentions ocular anomalies [6] - Mentions severe global developmental delay and progressive motor impairment, which is not directly related to vision problems. [7] - Lists various eye symptoms, including underdeveloped or absent eyes, cataracts, nystagmus, and a gap or split in the eye. [8] - Not relevant [9] - Microphthalmia can cause vision problems and blindness.

Diagnostic Tests for Syndromic Microphthalmia

Syndromic microphthalmia, a rare congenital condition characterized by underdeveloped or absent eyes, can be diagnosed through various clinical and genetic tests. Here are some diagnostic tests used to diagnose syndromic microphthalmia:

• Ultrasound: A non-invasive imaging test that uses high-frequency sound waves to create images of the fetus's eyes and surrounding tissues (3).
• Fetal MRI: A more detailed imaging test than ultrasound, fetal MRI can provide a clearer picture of the fetus's eyes and brain development (3).
• Genetic testing: Various genetic tests can be used to identify specific gene mutations associated with syndromic microphthalmia. For example:
  • The Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel analyzes genes associated with MAC and anterior segment dysgenesis (6).
  • Genetic testing for Lenz microphthalmia syndrome involves analyzing the BCOR gene for pathogenic variants (7).
• Exome-based NextGen sequencing: This test can identify genetic mutations in multiple genes simultaneously, including those associated with syndromic microphthalmia (9).

Imaging Tests

In addition to ultrasound and fetal MRI, other imaging tests may be used to diagnose syndromic microphthalmia. These include:

• MRI brain and orbit imaging: This test can help confirm true/clinical anophthalmia and identify any associated structural abnormalities in the brain or orbits (10).

References:

(3) Sep 7, 2022 — How do providers diagnose these conditions? · Ultrasound. · Fetal MRI. · Genetic testing, like the quad marker screening test: The quad screen is a ... (6) The Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel analyzes genes that are associated with MAC and anterior segment ... (7) Nov 30, 2022 — Lenz microphthalmia syndrome is caused by pathogenic variants, or changes, in the BCOR gene and is inherited in an X-linked pattern. This ... (9) Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based ... (10) Postnatal diagnosis can be made through clinical examination, with confirmation of true/clinical anophthalmia through MRI brain and orbit imaging. Molecular ...

Differential Diagnoses for Syndromic Microphthalmia

Syndromic microphthalmia, a condition characterized by the association of ocular anomalies (anophthalmia, microphthalmia, and retinal abnormalities), can be challenging to diagnose. The differential diagnoses for this condition include:

• Alcohol syndrome: A fetal alcohol syndrome that can cause microphthalmia among other systemic malformations.
• Branchio-oculo-facial syndrome: A rare genetic disorder that affects the development of the eyes, ears, and face, leading to microphthalmia and other anomalies.
• Cerebro-oculo-facio-skeletal (COFS) syndrome: A congenital disorder characterized by microphthalmia, cleft palate, and skeletal abnormalities.
• CHARGE association: A rare genetic disorder that affects the development of the eyes, ears, heart, and nervous system, leading to coloboma, heart defects, atresia of the choanae, retardation of growth, and other anomalies.

These differential diagnoses are important to consider when evaluating patients with syndromic microphthalmia, as they can guide further investigations and management decisions. [9][10][11]

References:

• [9] Jun 11, 2015 — Anophthalmia and microphthalmia are challenging clinical entities, as they can be caused by mutations in big variety of genes.
• [10] Differential Diagnosis. Congenital cystic eye, also known as anophthalmia with a cyst, is a close differential diagnosis of microphthalmia with a cyst; both conditions may present with a clinically invisible globe.
• [11] palate, asymmetry of face), Gorlin syndrome (ven-triculomegaly), Lenz syndrome (microcephaly), Walker-Warburg syndrome (lissencephaly, ventriculomegaly, cata-racts), fetal alcohol syndrome, and others.5