Dr.Ajinkya Deshmukh, D21582
A Female child, 7 Years old
Chief complaints- Severe photophobia, Mild blurring of vision OU.
General examination- Short statured, Underweight, Bowed hands, Knock knees, Rachitic rosary & Waddling gait.
Ocular examination- Visual acuity OU 6/9. Conjunctiva and Corneal stroma-characteristic iridescent needle like deposits. Rest of the anterior and posterior segment-Normal.
Provisional diagnosis- Bilateral ocular cystinosis involving cornea and conjunctiva.
Referred to Pediatrician and Nephrologist to address systemic condition.
Systemic diagnosis- Vitamin D resistant rickets and Fanconis syndrome
Treatment- Lubricants eye drops & protective glasses. A close follow up in association with Pediatrician and Nephrologist.
Carry home message: Differential diagnosis of Cystinosis should be considered in a patient presenting with crystalline deposits in eye. A prompt and thorough systemic evaluation must be done to address systemic complications of this disease which can be life threatening.
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