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Presentation type	E-poster
Title	Hereditary Hyperferritinemia Cataract Syndrome in a Pediatric Patient: A Case Report

Purpose	To present a rare case of hereditary hyperferritinemia cataract syndrome (HHCS) in a 6-year-old girl, highlighting diagnostic challenges, surgical management and the importance of genetic counseling.
Methods	We describe a case of a 6-year-old girl with a positive family history of early-onset cataract who was referred for ophthalmic examination, including visual acuity, slit-lamp biomicroscopy, refraction and funduscopy. Laboratory testing and genetic analysis are currently underway.
Results	The patient presented with bilateral central crystalline lens opacities and best-corrected bilateral visual acuity of 0.5. Family history revealed multiple relatives with early-onset cataract and confirmed HHCS. Due to bilateral amblyogenic cataract and complaints of photophobia, sequential lens aspiration with toric intraocular lens (IOL) implantation was performed. Postoperative outcome demonstrated visual improvement. No systemic treatment was required, but genetic counseling was provided.
Conclusion	HHCS is a rare autosomal dominant condition (estimated prevalence 1:200.000-1.1.000.000), typically presenting with slowly progressive bilateral lens opacities between early childhood and adolescence, without extraocular iron deposition and thus not requiring systemic treatment. Laboratory findings show isolated hyperferritinemia with normal transferrin saturation and serum iron. Genetic testing can confirm the mutation in the FTL gene affecting the iron-responsive element, causing pathological L-ferritin overproduction and direct ferritin deposition within the lens fibers. Early detection allows timely surgical intervention, prevention of amblyopia and genetic counseling for affected families.
Conflict of interest	No

Authors 1

Initials	M
Last name	Lauwers
Department	UZ Leuven
City	Leuven

Authors 2

Initials	I
Last name	Saelens
Department	UZ Leuven
City	Leuven

Authors 3

Initials	I
Last name	Casteels
Department	UZ Leuven
City	Leuven