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Spheroidal Degeneration in Two Siblings: Clinical and Histopathological Features
Demet Yabanoğlu1, Mehmet Cem Mocan1, Murat İrkeç1
1Hacettepe University Faculty of Medicine, Department of Ophthalmology, Ankara, Turkey
Turkish Journal of Ophthalmology
|August 31, 2021
Summary
Hereditary spheroidal corneal degeneration is rare. This study reports a rare case of bilateral band-shaped spheroidal corneal degeneration in two siblings, highlighting a potential genetic link.
Area of Science:
- Ophthalmology
- Genetics
Background:
- Spheroidal corneal degeneration (SCD) is a corneal condition typically associated with aging.
- Hereditary predisposition to SCD is considered uncommon.
Purpose of the Study:
- To report a rare instance of familial spheroidal corneal degeneration.
- To describe the clinical presentation of bilateral band-shaped spheroidal corneal degeneration in siblings.
Main Methods:
- Case report of two siblings presenting with visual disturbances.
- Clinical examination and imaging of the cornea.
Main Results:
- Both siblings presented with bilateral band-shaped spheroidal corneal degeneration.
- The condition in siblings suggests a possible hereditary component.
Conclusions:
- This case highlights a rare occurrence of inherited spheroidal corneal degeneration.
- Further research may be warranted to explore genetic factors in SCD.
