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Type presentatieE-poster
TitelFamily Ties at the Limbus: A Familial Peripheral Hypertrophic Subepithelial Corneal Dystrophy (PHSCD) case series.
DoelTo report a familial cluster with PHSCD and highlight phenotypic variability within this entity.
MethodesRetrospective case series of three related women (two sisters, one niece) evaluated with BCVA, slit-lamp biomicroscopy and Scheimpflug tomography (Pentacam).
ResultatenOphthalmic histories were unremarkable in all three patients. Both sisters (53 and 52 years) had bilateral peripheral hypertrophic subepithelial deposits with pannus and a central leading iron line. Symptoms were limited to intermittent foreign-body sensation. Pentacam showed irregular astigmatism up to 6.5 D (OD) and 8.8 D (OS) in the older sister, and 2.4–3.8 D in the younger; a hyperopic shift reflected peripheral corneal flattening along the lesion axis. By contrast, the niece (42 years) had a unilateral nasal subepithelial opacity with pannus and minimal astigmatism (0.3–0.8 D), consistent with a milder phenotype. BCVA was preserved in all three patients (0.9–1.0). Accordingly, conservative management (observation/lubrication) was pursued; surgery was deferred.
ConclusieClinically aligned, genetically suggestive. Concordant peripheral features—iron line, pannus, and subepithelial opacities—with graded severity across three related patients strengthen the case for hereditary PHSCD. Despite phenotypic overlap with Salzmann’s nodular degeneration, PHSCD is a similar yet distinct entity. These findings echo prior descriptions of “pterygoid corneal dystrophy” and should heighten awareness of pedigree patterns in clinical practice.
BelangenverstrengelingNee
Auteurs 1
InitialenS
NaamMourisse
InstituutGhent University Hospital
StadGhent
Auteurs 2
InitialenI
NaamHouben
InstituutGhent University Hospital
StadGhent
Auteurs 3
InitialenD
NaamRoels
InstituutGhent University Hospital
StadGhent
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