Albinism hair and skin Hypopigmentation of the eyes only or the eyes
Conditions
Interventions
None listed
Sponsors
Leids Universitair Medisch Centrum
Eligibility
Age
12 Years to 99 Years
Inclusion criteria
Inclusion criteria: Patients diagnosed with albinism, Idiopathic Infantile Nystagmus (IIN) or FHONDA from the LUMC and/or Bartiméus. Patients must be older than 12 years of age.
Exclusion criteria
Exclusion criteria: Patients with another condition besides albinism, FHONDA or IIN that could cause reduced visual function.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The presence and severity of opticopathy in patients with albinism with relatively poor BCVA and relatively good BCVA, i.e. less than 0.3 logMar and more than 0.8 logMar, respectively. | — |
Secondary
| Measure | Time frame |
|---|---|
| The difference in clinical and electrophysiological profile between patients with albinism with relatively poor and good BCVA. Furthermore, the difference in clinical and electrophysiological profile of patients with albinism, FHONDA and IIN. Clinical profile includes BCVA, refraction, strabismus, stereopsis, amblyopia, nystagmus, photophobia, iris transillumination, and macula and optic nerve characteristics. Electrophysiological profile includes VEP misrouting and VEP opticopathy (pattern VEP) analysis in detail. | — |
Countries
Netherlands
Outcome results
None listed