Ehlers-Danlos syndrome associated with keratoconus. A case report

Area of Science:

• Ophthalmology
• Genetics
• Connective Tissue Diseases

Background:

• Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders.
• Keratoconus is a progressive thinning of the cornea, leading to visual impairment.
• Type IV Ehlers-Danlos syndrome is characterized by a defect in collagen type III.

Observation:

• A patient with features suggestive of probable Ehlers-Danlos syndrome type IV presented with keratoconus.
• This represents a novel association between these two conditions.

Findings:

• The patient's keratoconus was successfully managed with corneal grafting.
• This case highlights a potential, previously unreported, ocular manifestation in Ehlers-Danlos syndrome type IV.

Implications:

• This finding may suggest a genetic link or predisposition between Ehlers-Danlos syndrome type IV and keratoconus.
• Further research is warranted to explore the underlying mechanisms and prevalence of keratoconus in EDS patients.
• Ophthalmologists should consider screening for keratoconus in patients diagnosed with Ehlers-Danlos syndrome type IV.