Syndromic microphthalmia

A condition characterized by small eyes associated with other systemic abnormalities

Syndromic microphthalmia is a congenital condition where one or both eyes are abnormally small and is associated with other systemic abnormalities. This condition is part of a group of disorders known as microphthalmia, which can occur in isolation or as part of a syndrome. Syndromic microphthalmia is often associated with genetic mutations and can present with a variety of other physical and developmental anomalies.

Etiology

Syndromic microphthalmia is caused by genetic mutations that affect the development of the eye and other body systems. These mutations can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Some of the genes implicated in syndromic microphthalmia include SOX2, OTX2, and CHD7.

Clinical Features

Microphthalmia in a newborn

The primary feature of syndromic microphthalmia is the presence of one or both eyes that are abnormally small. This can lead to visual impairment or blindness. In addition to microphthalmia, individuals may present with other systemic abnormalities, which can include:

• Craniofacial anomalies such as cleft lip and cleft palate
• Cardiac defects
• Renal anomalies
• Hearing loss
• Developmental delay and intellectual disability

Diagnosis

Diagnosis of syndromic microphthalmia involves a combination of clinical examination, imaging studies, and genetic testing. Ultrasound and MRI can be used to assess the size and structure of the eyes and associated craniofacial structures. Genetic testing can identify mutations in genes known to be associated with the condition.

Management

Management of syndromic microphthalmia is multidisciplinary and involves addressing the visual impairment and any associated systemic abnormalities. This may include:

• Ophthalmologic care to optimize visual function
• Surgical interventions for craniofacial anomalies
• Audiological assessments and interventions for hearing loss
• Developmental support and special education services

Prognosis

The prognosis for individuals with syndromic microphthalmia varies depending on the severity of the eye abnormalities and the presence of other systemic conditions. Early intervention and a comprehensive management plan can improve outcomes and quality of life.

Related pages

• Microphthalmia
• Anophthalmia
• Coloboma
• Congenital eye anomalies