Descemet Membrane Endothelial Keratoplasty (Dmek) In A Rare Atypical Presentation Of Fuchs’ Endothelial Corneal Dystrophy

To report a rare presentation of Fuchs’ Endothelial Corneal Dystrophy and highlight the importance of examination of family as an aid in diagnosis.

To demonstrate the effectiveness of Descemet Membrane Endothelial Keratoplasty (DMEK) in an atypical Fuchs’ Endothelial Corneal Dystrophy case.

A 34-year-old female had sudden blurring of vision in both eyes for 6 months.

The signs of bilateral corneal edema with pigment dispersion led to her being diagnosed as

 viral endotheliitis and being treated with steroids, hypersol, and systemic therapeutic Acivir. She had a history of using antidepressants for six years, which led to another differential, namely, drug-induced endotheliitis elsewhere, and she was asked to stop her systemic medications, despite which her condition was status quo.

A 34-year-old lady presented with a sudden onset of blurring of vision in both eyes 6 months ago, not associated with pain or other ocular symptoms. Her BCVA in both eyes was 20/40. She was being treated for viral endothelialitis. She had a history of using antidepressants for six years, which was stopped at the onset of blurring.

The cornea revealed a central well-circumscribed 5 mm area of corneal edema with a focal pigment dispersion with confluent guttae. The rest of the peripheral cornea, uveal tissue, and lens was clear and intraocular pressure was within normal limits.

Examination and investigations pointed towards endothelialitis.

Specular microscopy revealed her endothelial cell density as RE- 2256/mm³ and LE- 2235/mm³.

Examination of the patient's mother revealed diffuse corneal guttae clinching early-onset Fuchs endothelial dystrophy. Diagnostic tests were carried out and posted her for Descemet Membrane Endothelial Keratoplasty (DMEK) right eye, followed by the left, with endothelial cell counts of the donor tissue being 2703 /mm2 and 3472 /mm2 of the right eye and left eye respectively.

Histopathology of the Descemet's stripping 6mmx8mm revealed PAS positive Descemet membrane with attenuated endothelial cells and few guttae formations.

The postoperative phase was uneventful, the graft clear, and the symptoms resolved with a vision of 20/20 ( logMAR= 0.0)

Postoperative 7 months follow-up showed clear graft in both eyes with a vision of 20/20 (log MAR= 0.0).

In summary, we report a rare case presentation of FECD, which was misdiagnosed as viral and drug-induced endotheliitis, and the patient was unnecessarily made to stop her antidepressants and take antivirals. All of this could have been avoided with a simple examination of the patient's mother, which helped us come to a definite diagnosis. Examining family members is of utmost importance when it comes to diagnosing a rare presentation of a common disease. 

DMEK proved to be an effective surgery without any postoperative complications. It improved the patient's quality of life and helped her regain her confidence with a pristine vision of 20/20 ( log MAR= 0.0) in both eyes.