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RETINAL DYSTROPHY IN JEUNE SYNDROME: A MULTIMODAL IMAGING CHARACTERIZATION
Elisabetta Pilotto1, Edoardo Midena1,2, Evelyn Longhin1
1Department of Ophthalmology, University of Padova, Padova, Italy; and.
Retinal Cases & Brief Reports
|January 21, 2020
Summary
Jeune syndrome can cause retinal dystrophy, impacting vision. Multimodal imaging reveals photoreceptor damage, aiding diagnosis and follow-up for this rare condition.
Area of Science:
- Ophthalmology
- Genetics
- Medical Imaging
Background:
- Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare autosomal recessive skeletal disorder.
- Ocular manifestations, including retinal dystrophy, can occur in patients with Jeune syndrome.
Observation:
- An 18-year-old female with Jeune syndrome presented with high myopia, reduced visual acuity, exotropia, and nystagmus.
- Fundus examination revealed posterior myopic staphyloma and diffuse retinal dystrophy.
Findings:
- Full-field electroretinogram confirmed a cone-rod dystrophy.
- Spectral domain optical coherence tomography showed a hyperreflective band beneath a disrupted external limiting membrane, indicating primary photoreceptor outer segment involvement.
- Fundus autofluorescence corroborated the findings with relative sparing of the retinal pigment epithelium.
Implications:
- Multimodal imaging, including optical coherence tomography and fundus autofluorescence, provides crucial insights into retinal abnormalities in Jeune syndrome.
- Noninvasive imaging plays a vital role in the multidisciplinary diagnostic approach and long-term management of patients with Jeune syndrome-associated retinal dystrophy.
