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Cystinosis

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Cystinosis is a rare autosomal recessive lysosomal storage disease ,results from mutation in the CTNS gene located at 17p13.2
Estimated incidence reported to be 1 in 100,000–200,000 live births 

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Cystinosis

  1. 1. Cystinosis •Cystinosis is a rare autosomal recessive lysosomal storage disease ,results from mutation in the CTNS gene located at 17p13.2 •Estimated incidence reported to be 1 in 100,000–200,000 live births  Clinical practice: a proposed standardized ophthalmological assessment for patients with Cystinosis. Ophthalmol Ther. 2017;6(1):93–104.  Photophobia and corneal crystal density in nephropathic cystinosis: an in vivo confocal microscopy and anterior-segment optical coherence tomography study. Invest Ophthalmol Vis Sci 2015;56(5):3218–3225
  2. 2.  Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease. Front. Pediatr., 14 March 2018
  3. 3. Use of Two Mobile Phones To Visualize Corneal Cystine Crystals A: Smartphone 1 (left) is used as the light source and smartphone 2 (right) captures a close-up image B: Smartphone 1 is swiveled 30°–45° to obtain the specular reflection effect
  4. 4. Use of Two Mobile Phones To Visualize Corneal Cystine Crystals A: Normal-appearing cornea in the patient’s eye when using only a single smartphone to capture the image B: With an additional smartphone used as a light source, the temporal area (white arrows) of the affected cornea shows the “ground-glass” haziness C: Eye of an individual without cystinosis
  5. 5. In vivo confocal microscopy images  In vivo confocal microscopy (IVCM) is the best imaging technique to represent corneal cystine crystals in vivo, and is the gold standard for ophthalmological follow-up (A): In children, many deposits are in the anterior stroma (B): The posterior stroma is intact in children: few crystals and many keratocytes are visible (C): On the contrary, few crystals are aggregated in the anterior stroma of adults (D): Their posterior stroma has high crystal density
  6. 6. In vivo confocal microscopy images Hexagonal crystals (A): One hexagonal crystal is visible in a child. (B): Some hexagonal crystals in adult
  7. 7. Anterior segment optical coherence tomography (AS- OCT) scans of the cornea  (A–B): In children, the anterior stroma is predominantly involved in crystal deposition  In Patient 3 (C) the crystal location is deeper, but the posterior stroma is still not affected  (D–E) : On the contrary, in adults the crystals are mostly located in the posterior stroma
  8. 8. • Anterior segment optical coherence tomography (AS-OCT) is a relatively novel imaging technique for cross-sectional analysis of the anterior structures of the eye including the cornea. It does not require any contact and hence it is preferable in patients with low compliance for any corneal contact examinations, such as IVCM [7]. Although this examination is faster and less inconvenient for the patients, very few studies are available using AS-OCT for corneal analysis of patients with cystinosis [7, 9].
  9. 9. Methods: 17 patients (mean age = 17.6) with cystinosis were included in the study  Neuropsychological assessment was performed including: intelligence (intelligence quotient (IQ) , memory, and visuoperceptual skills assessments. Brain MRI was also performed in 16 out of 17 patient  Results: IQ was normal (mean total IQ = 93)  The perceptual index was significantly lower than the verbal comprehension index  Memory assessment showed no difference between visual and verbal memory  The working memory was significantly impaired in comparison with the general memory skills  Visuospatial skills assessment revealed copy and reproduction scores below the 50th percentile rank in more than 70% of the patients  Brain MRI showed cortical and sub-cortical cerebral atrophy, especially in the parieto-occipital region and flair hypersignals in parietal, occipital and brain stem/cerebellum  patients with atrophic brain had lower total IQ scores compared to non-atrophic cystinosis patients Conclusions: patients with cystinosis have a specific neuropsychological and neuroanatomical profile. we suggest performing a systematic neuropsychological assessment children with cystinosis
  10. 10. Thank you for your attention

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