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Deze abstract is toegekend aan sessie AOB Poster session1
TitelOcular non-nephropathic cystinosis due to a novel mutation in the lysosomal cystine transporter gene CTNS
Abstract Nr.1025
DoelTo describe a patient with ocular cystinosis, a rare AR metabolic disease characterized by the accumulation of cystine crystals, due to a novel mutation in the CTNS gene.
MethodesA 43-year old lady presented for routine examination. She underwent an extensive clinical and genetic work-up
ResultatenThe patient was in good health. No ocular complaints. The BCVA was 10/10. Slit-lamp examination revealed small white reflective crystals spread in the anterior third of the corneal stroma in both eyes. Fundus examination showed no depigmentation or pigmentary mottling.

Serum protein analysis to exclude a monoclonal gammopathy as cause of the corneal crystals was normal. Laboratory investigations and 24h urine collection showed a normal kidney function. Cystine concentration measured in leucocytes was 0,9 (nl <0,2 nmol half-cystine/mg protein) leading to a diagnosis of ocular, non-nephropathic, cystinosis. Genetic analysis with compound heterzygosity for the 57kb deletion and a novel c.635C>T mutation (p.Ala212Val) in the CTNS gene confirmed the clinical diagnosis.
ConclusieThe incidental finding of corneal crystals warrants a systemic work-up in search for the underlying cause. Renal involvement is heterogeneous in patients with non infantile cystinosis, even within families. Therefore genetic analysis confirming a clinical diagnosis of isolated ocular cystinosis without renal involvement is mandatory for appropriate counselling and treatment.
Auteur 1
NaamACCOU
InitialenG.
InstituutUNiversitair ziekenhuis Gent
StadGent
Auteur 2
NaamDe Craene
InitialenS.
InstituutUZ Gent
StadGent
Auteur 3
NaamVanlerberghe
InitialenV
InstituutPrive-praktijk
StadBeernem
Auteur 4
NaamKestelyn
InitialenPh
InstituutUz Gent
StadGent
Auteur 5
NaamLeroy
InitialenBP
InstituutUz Gent
StadGent
Auteur 6
NaamDe Zaeytijd
InitialenJ
InstituutUz Gent
StadGent
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