✍ rare but very common in exams ( due to fatality) almost 2000 cases reported in literature
✍ AR disorder
✍ typically diagnosed by 2 yrs of age
✍ characterized by widespread cysteine crystal deposition within tissues all over the body .
✍ Cystinosis Ocular picture
☝the deposition of myriads of minute crystals within the conjunctiva and the cornea
☝photophobia
☝recurring epithelial erosions
☝ blurred vision.
☝ Crystals can also be deposited in
• the iris
• lens capsule
• retina.
✍ Cystinosis Systemic picture
☝growth retardation
• difficult swallowing
• failure to thrive
• delayed developmental milestones
☝renal failure (Fanconi syndrome) at 9 yrs old
• dehydration
• thirsty
• polyuria
☝hepatosplenomegaly
☝DM
☝ Hypothyroidism
✍ Cystinosis Treatment
☝liaise with qualified pediatrician for systemic management
☝ topical cysteamine 0.2%.
❤ home message
☝ rarity is not an excuse for u not to know such fatal cases
