Pseudokeratoconus in geleophysic dysplasia: a diagnostic pitfall

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Keratoconus (KC) is a progressive corneal ectasia characterized by stromal thinning and biomechanical weakness, leading to irregular astigmatism and reduced visual acuity.
• Paediatric KC is often aggressive, necessitating early diagnosis and intervention, typically involving corneal collagen cross-linking (CXL).
• Certain rare genetic conditions can present with corneal tomography findings that mimic KC, posing a risk of misdiagnosis.

Purpose of the Study:

• To report a case of a pediatric patient with Geleophysic Dysplasia (GD) initially misdiagnosed as KC.
• To emphasize the importance of comprehensive multimodal corneal evaluation in syndromic pediatric patients.
• To underscore the potential for misdiagnosis and unnecessary interventions like CXL in such cases.

Main Methods:

• Clinical case report of an early adolescent male.
• Initial diagnosis based on corneal topography suggestive of KC.
• Subsequent systemic examination and genetic testing to confirm GD type 1.

Main Results:

• The patient was diagnosed with Geleophysic Dysplasia (GD) type 1.
• The tomographic features initially mistaken for KC were attributed to GD.
• The patient was spared unnecessary bilateral corneal collagen cross-linking (CXL) due to accurate diagnosis.

Conclusions:

• Geleophysic Dysplasia can present with tomographic findings mimicking keratoconus.
• Multimodal corneal evaluation is crucial for accurate diagnosis in syndromic pediatric patients.
• Avoiding misdiagnosis prevents unnecessary and potentially harmful interventions such as CXL.