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Ocular cystinosis that presented with photophobia

Poster Details

First Author: S.Zirtiloglu TURKEY

Co Author(s):    N. Dincer   T. Alpar Akcetin   K. Eltutar              

Abstract Details

Purpose:

To emphasize the importance of a very careful examination in terms of not taking the rare thing that might have vital preservation.

Setting:

Istanbul Training and Research Hospital

Methods:

A 35-year old male patient admitted to our outpatient clinic due to sensitivity to light and burning sensation in his eyes for along time with increased intensity recently. In his examination, vision and intraocular pressure were normal. In slit-lamp examination, there were thin crystals of substantial amount in cornea. Fundic examination was normal also. After nephrologic evaluation, patient diagnosed with ocular/non-nephrologic cystinosis.

Results:

Cystinosis is a condition characterized by cystin deposits intracellularly. Excessive cystin damages cells and causes the formation of cystin crystals. The most common kidney and school tissues are involved. There are three different types of cystinosis: Nephropathic cystinosis, intermediate cystinosis, and ocular/non-nephropathic cystinosis. Nephropathic cystinosis starts in infancy and characterized by growth retardation. Crystal deposits in ocular surface causes pain and photophobia. Cystinosis is seen in 100000 to 200000 births. CTNS gene mutation can be responsible for all three types of cystinosis.

Conclusions:

Many patients present with photophobia complaining in very intensive outpatient clinic conditions. We wanted to emphasize the importance of a very careful examination in terms of not taking the rare thing that might have vital preservation.

Financial Disclosure:

NONE

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