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Titel	Ocular phenotype of Hereditary Hyperferritinaemia Cataract Syndrome (HHCS)
Abstract Nr.	257

Doel	To describe the ocular phenotype of the autosomal dominant Hereditary Hyperferritinaemia Cataract Syndrome.
Methodes	A 42-year-old woman with HHCS and her two affected children (daughter aged 16 and son aged 13) were referred for ophthalmological evaluation. Their haematological work-up had revealed an extreme hyperferritinaemia, first noticed in the mother 10 years before. All three are heterozygous for the Arg40Gly mutation in the iron-responsive element (IRE) in the gene encoding the ferritin light chain on chromosome 19. A detailed ophthalmological examination was performed including extensive slit-lamp photography of the lens.
Resultaten	All three patients did not have any visual complaints. BCVA was 8/10 in the mother, and was normal in both children. The slit-lamp examination revealed a higly distinctive lens aspect with crystalline deposits scattered predominantly throughout the anterior and posterior lens cortex and to a lesser extent in the nucleus. The crystalline deposits were most abundant in the mother, considerably less extensive in the daughter and mildest in the youngest child, suggesting a slowly progressive nature.
Conclusie	Hereditary Hyperferritinaemia Cataract Syndrome is an autosomal dominant syndrome with distinctive lenticular deposits, most pronounced in the anterior and posterior lens cortex. Phenotypic comparison of 3 family members of different ages suggests a slowly progressive nature of the disease.

Auteur 1

Naam	PLATTEAU
Initialen	E
Instituut	Dept of Ohthalmology, Ghent University Hospital
Stad	Ghent, Belgium

Auteur 2

Naam	HOORNAERT
Initialen	K
Instituut	Dept of Ohthalmology, Ghent University Hospital
Stad	Ghent, Belgium

Auteur 3

Naam	MOENS
Initialen	K
Instituut	Dept of Paediatrics, AZ Lokeren
Stad	Lokeren, Belgium

Auteur 4

Naam	LEROY
Initialen	BP
Instituut	Ctr for Medical Genetics, Ghent University Hospital
Stad	Ghent, Belgium