A Novel Familial Syndrome of Brachydactyly E and Nanophthalmos

Abstract

 

Purpose:

 

To describe the clinical presentation and concomitant ocular manifestations of a family affected by congenital brachydactyly type E, nanophthalmos, and choroidal effusions.

 

Methods:

 

Patients from three generations of a family affected by brachydactyly type E and nanophthalmos were recruited. Patients had a complete physical exam and standard ophthalmic exam, including best-corrected visual acuity, dilated ophthalmoscopy, imaging, and axial length measurements.

 

Results:

 

Three patients in a family of nine were found to be affected. Clinical history and exam were remarkable for short stature, brachydactyly E, nanophthalmos with thickened sclera, and early-onset narrow-angle glaucoma. Clinical course for the three affected individuals included bilateral peripheral iridotomies combined with medical management of glaucoma. Patients II-2 and III-1 also had further complications of severe subacute vision loss due to uveal effusion syndrome with subretinal fluid accumulation and retinal detachment. These manifestations were successfully treated with scleral windows with mitomycin C. Visual acuity in the treated eye improved to 20/40 in both patients.

 

Conclusions:

 

We have described a novel combination of clinical manifestations that may represent a newly described hereditary connective tissue disorder. The syndrome includes brachydactyly type E and short stature, with notable ocular manifestations including nanophthalmos with thickened sclera, angle-closure glaucoma and retinal detachment secondary to large uveal effusions. Scleral windows painted with mitomycin C have proven to be an effective therapy. Further characterization of this syndrome will permit early detection and treatment of affected patients with vision-saving therapies.  

 

Keywords: genetics • clinical (human) or epidemiologic studies: outcomes/complications • choroid