Ultra-widefield fundus autofluorescence highly sensitive for diagnosing inherited retinal diseases

This study assessed the sensitivity of ultra-widefield fundus autofluorescence (UWF-FAF) for diagnosing inherited retinal diseases in difficult-to-examine children. 

Study design

This retrospective, observational study included 112 eyes of 59 patients aged 1 to 13 years with a provisional diagnosis of retinal dystrophy. Children underwent clinical examination as well as color fundus imaging and fundus autofluorescence using the Optos Tx-200 imaging system. Two masked graders were used for image analysis. The outcome was "disease present" or "disease absent."

Outcomes

The authors found that UWF-FAF was the most sensitive method for detecting retinal disease, identifying 56 infants (95%) with disease; 40 children (68%) were identified by ultra widefield color fundus photography and 29 (49%) by clinical examination.

Limitations

This is a retrospective study. There were no intraobserver readings. Neither the clinical exam nor the UWF imaging techniques used in the study can identify the type of retinal disease; they only help determine if disease is present. This is an important first step for determining which patients require additional testing.

Clinical significance

Obtaining a good peripheral exam on a child can be difficult. Identifying subtle changes due to inherited retinal disease in this age group is challenging because these changes are often not visible on clinical exams. The authors found that UWF-FAF successfully diagnosed children as young as 1 and was superior to the clinical exam in detecting early pathologic changes in the retina.