Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome)

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Jeune syndrome (JS), or asphyxiating thoracic dystrophy, is an autosomal recessive disorder affecting skeletal development and causing multi-organ complications.
• JS affects approximately 1 in 100,000–130,000 newborns, often leading to respiratory failure and significant comorbidities.
• Ocular complications in JS are classified as hereditary syndromic retinopathies, frequently linked to genetic mutations affecting ciliary proteins.

Purpose of the Study:

• To highlight the association between Jeune syndrome and night blindness.
• To emphasize the importance of considering JS in the differential diagnosis of hereditary retinal dystrophies, particularly in patients with nyctalopia and other syndromic comorbidities.
• To underscore the utility of multimodal retinal imaging and genetic counseling for diagnosis and management.

Main Methods:

• Case report of a patient with Jeune syndrome presenting with night blindness.
• Clinical assessment of visual acuity and visual function.
• Multimodal retinal imaging (structural and functional assessments) and genetic analysis were implied for diagnosis and counseling.

Main Results:

• The patient presented with night blindness (nyctalopia) despite having 20/20 Snellen visual acuity.
• Severe visual impairment was attributed to photoreceptor dysfunction caused by a ciliopathy secondary to a genetic mutation characteristic of JS.
• This case illustrates a less commonly recognized ocular manifestation of Jeune syndrome.

Conclusions:

• Hereditary retinal dystrophies should be considered in patients with syndromic comorbidities and nyctalopia, even with normal visual acuity.
• Asphyxiating thoracic dystrophy (Jeune syndrome) must be included in the differential diagnosis for such cases.
• Comprehensive ophthalmological evaluation, including multimodal imaging and genetic counseling, is essential for accurate diagnosis and management of JS-related ocular pathologies.