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FOVEA PLANA AND FUNDUS HYPOPIGMENTATION IN PRADER-WILLI SYNDROME
Priscille de Laage de Meux1,2, Héléna Mosbah3, Anne Cotton-Viard4
1Ophthalmology Center for Imaging and Laser, Paris, France.
Retinal Cases & Brief Reports
|June 2, 2023
Summary
A case study reveals fovea plana and fundus hypopigmentation in a patient with Prader-Willi syndrome (PWS). This suggests a potential genetic link between PWS and oculocutaneous albinism due to shared chromosomal regions.
Area of Science:
- Ophthalmology
- Genetics
- Medical Case Reports
Background:
- Prader-Willi syndrome (PWS) is a complex genetic disorder.
- Ocular manifestations in PWS are not fully characterized.
- Investigating potential genetic overlaps between PWS and other genetic conditions is crucial.
Observation:
- A 34-year-old male patient with diagnosed Prader-Willi syndrome presented with bilateral fovea plana.
- Fundus hypopigmentation was noted in both eyes during a routine ophthalmological examination.
- High-resolution imaging, including fundus photography and OCT, confirmed these findings.
Findings:
- The patient exhibited fovea plana, a developmental anomaly of the fovea.
- Generalized fundus hypopigmentation was observed, consistent with albinism spectrum disorders.
- These ocular findings were documented using advanced imaging techniques.
Implications:
- Fovea plana and fundus hypopigmentation may be associated with Prader-Willi syndrome.
- The findings support a potential genetic overlap between PWS and oculocutaneous albinism, possibly linked to deletions on chromosome 15.
- This case highlights the importance of comprehensive ophthalmological evaluation in patients with PWS.
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