Epidemiologic observational study. Study will include two phases: 1. Retrospective cross-sectional phase: At this stage of the study, retrospective screenings are carried out at study sites and all juvenile cataract cases are planned to be determined. 2. Prospective phase: At this stage of the study, identified juvenile cataract cases as a result of retrospective screenings will be called to be invited to the sites and blood samples will be obtained for the cholestanol tests for the cases that have given Informed Consent. This observational study is designed in two phases; retrospective and prospective. Retrospective part includes screening the patient database and / or patient files at ophthalmology clinics participating in the study and identifying patients diagnosed with idiopathic juvenile cataracts. The data of patients with idiopathic juvenile cataracts will be reviewed and the data of the patients meeting the inclusion/exclusion criteria will be recorded. Once this phase is completed, the prospective phase of the study will start and the patients meeting the criteria will be invited to the site to participate in the study. Current data will be collected from the patients who agree to participate in the study and the clinical status of the patients will be evaluated according to the Mignarri index. In addition, blood will be obtained from all patients to diagnose CTX disease. Blood samples will be sent to Duzen Laboratories in Ankara and analyzed for cholestanol.
Study Type
OBSERVATIONAL
Enrollment
1,000
Cholestanol analysis will be performed to see the Rate of juvenile cataract patients whose cholestanol test result is above threshold (3.75 mg/mL) and suspected CTX cases
Adana Başkent University School of Medicine
Adana, Turkey (Türkiye)
NOT_YET_RECRUITINGAdana State Hospital
Adana, Turkey (Türkiye)
RECRUITINGÇukurova University Medical Faculty Department of Ophtalmology
Adana, Turkey (Türkiye)
RECRUITINGAnkara Training and Research Hospital
Ankara, Turkey (Türkiye)
Rate of juvenile cataract patients
Rate of juvenile cataract patients whose cholestanol test result is above threshold (3.75 mg/mL) and suspected CTX cases
Time frame: "through study completion, an average of 3 years"
CTX history in family
The history of the disease will be assessed from the patient records and by interview
Time frame: "through study completion, an average of 3 years"
Presence of consanguineous marriage
Presence of consanguineous marriage
Time frame: "through study completion, an average of 3 years"
The frequency of the systemic findings
The frequency of the following systemic findings: * Tendon xanthomas * Chronic diarrhea * Prolonged neonatal jaundice * Early osteoporosis
Time frame: "through study completion, an average of 3 years"
The frequency of the neurological symptoms
The frequency of the following neurological symptoms: * Cerebellar ataxia * Spastic paraparesis * Disruption of dentate nucleus signal detected by MRI * Intellectual disability * Psychiatric disorders * Epilepsy * Parkinson * Polyneuropathy
Time frame: "through study completion, an average of 3 years"
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Ankara University Medical Faculty Department of Ophtalmology
Ankara, Turkey (Türkiye)
RECRUITINGBaşkent University School of Medicine
Ankara, Turkey (Türkiye)
RECRUITINGDünya Göz Hospital
Ankara, Turkey (Türkiye)
RECRUITINGHacettepe University Medical Faculty Department of Ophtalmology
Ankara, Turkey (Türkiye)
RECRUITINGHealth Sciences University Ankara State Hospital
Ankara, Turkey (Türkiye)
RECRUITINGSBU Gülhane Training and Research Hospital
Ankara, Turkey (Türkiye)
RECRUITING...and 26 more locations