apical dystrophy

Sorsby Macular Coloboma Syndrome

Clinical Characteristics
Ocular Features: 

Macular colobomas, usually bilateral, are the major ocular feature of this oculoskeletal disorder.  These are non-progressive and are generally heavily pigmented.  Vision is, of course, severely reduced (20/200) and horizontal or pendular nystagmus is a feature in some cases.

Systemic Features: 

The systemic features are primarily skeletal.  Patients have short-limbed dwarfism and brachydactyly of the type B variety.  The thumbs and sometimes the large toes may be broad and bifid.  The distal two phalanges sometimes short, absent, or duplicated and the nails can be dysplastic or absent. Syndactyly of several digits in both hands and feet is common.  The ears are large and protuberant and some patients have deafness.  Oligodontia may be present.  Cartilage can have diastrophic changes.  Mental development is normal.


In the few families reported, the transmission pattern is vertical suggesting autosomal dominant inheritance but no mutation or locus has been reported.  The mutation causing brachydactyly type B1 was not present in several cases.

Autosomal dominant
Treatment Options: 

Surgical treatment of digital anomalies can be beneficial.  Low vision aids could be helpful as well.

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