X-Linked Adrenoleukodystrophy
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: Patients group 1)Ages 8-75 years old. 2)Patients diagnosed with adrenoleukodystrophy. 3)ALD patients or their guardians agree to participate in this clinical study and sign an informed consent form. Health control group 1) Those who agree to participate in this clinical study and sign the informed consent form, and are willing and able to follow the study schedule, procedures and related examinations 2) Male or female aged 8-75 years (including cut-off values) (age and sex matched to ALD patients) 3) No history of diabetes, neurological or ophthalmic disease and normal vision (=0.1 Logmar) 4) Be in good health, no previous history of major diseases and infectious diseases (including hepatitis B, hepatitis C, AIDS, syphilis) 5) Those whose medical history, physical examination, and laboratory test results are normal or clinically significant abnormalities have not been found, and who are in good physical condition 6) Non-ALD patients
Exclusion criteria
Exclusion criteria: 1) Patients with ALD with severe intelligence, cognitive decline, coma, or inability to cooperate with examination 2) History of diabetes or concomitant diabetic retinopathy 3) History of hypertension or hypertensive retinopathy 4) Suffering from other vitreous and retinal diseases (including hereditary vitreoretinal degeneration, vitreous opacity, retinal vascular occlusion, arteriosclerosis, hematopathic fundus lesions, epiretinal membrane, retinal degeneration and malnutrition, etc.) 5) The presence of congenital eye diseases 6) The degree of myopia in both eyes is greater than 600 degrees 7) History of intraocular surgery 8) Significant opacity of the refractive medium 9) Previous diagnosis of glaucoma or intraocular pressure> 21 mmHg 10) Other neurodegenerative diseases, comorbidities that interfere with the evaluation of myelopathy. Examples such as multiple sclerosis, amyotrophic lateral sclerosis, vitamin B12 deficiency, and progressive spastic hematoparesis (including hereditary spastic hematoparesis)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| EDSS;SSPROM;timed up-and-go;MMSE;Retinal thickness;Retinal vascular density;Retinal perfusion area;area of foveal avascular zone ;OQAS; | — |
Secondary
| Measure | Time frame |
|---|---|
| OSDI;Chinese dry eye questionnaire;Pittsburgh Sleep Quality Index;NEI-VFQ-25;intraocular pressure;uncorrected visual acuity (UCVA);VEP;ERG;Cranial MRI;Spinal MRI; | — |
Countries
China
Contacts
Department of Ophthalmology, Daping Hospital, Army Medical University