Case Report: Fundus Albipunctatus Diagnosis Using Adaptive Optics SLO and Genetic Testing

Article: Mount Sinai Ophthalmologists use Breakthrough Imaging to Understand Eye Damage from Rare Congenital Retinal Disease
Source: New York Eye and Ear Infirmary of Mount Sinai, in EyeWire News
Published: April 20, 2021
Article: Adaptive optics SLO sheds light on fundus albipunctatus
Source: Modern Retina
Published: July 5, 2021

AOSLO of the cone photoreceptor mosaic in the central fovea
of the right eye of the patient (A,C) and a healthy control (B,D)

Investigators presented a rare case of a 62-year-old man who was misdiagnosed with Stargardt's disease for ten years before adaptive optics scanning laser ophthalmoscopy (AOSLO) and genetic testing revealed a diagnosis of fundus albipunctatus. Much rarer than Stargardt's macular dystrophy, fundus albipunctatus is an inherited retinal disease categorized under congenital stationary night blindness (CSNB) that is associated with fundus findings. In fundus albipunctatus, an autosomal recessive mutation in the RDH5 gene disrupts proper retinoid recycling. Also unlike the progressive retinal deterioration seen in Stargardt's disease, the clinical course of fundus albipunctatus does not change over time. While a diagnosis of fundus albipunctatus is confirmed with genetic testing, AOSLO was helpful in explaining the patient's clinical presentation and characterizing the photoreceptor status of the disease. The investigators explain, "Previous studies using AOSLO in Stargardt’s disease have revealed increased cone and rod spacing, with reduced foveal cone density and enlarged cone size, and dark cones thought to be associated with foreshortened outer segments. These findings are similar to our patient’s photoreceptor characteristics on AOSLO, except for the profound sparing observed in the central fovea." The use of AOSLO to characterize the cellular structure of photoreceptors in a patient with fundus albipunctatus revealed that in the later stages of the disease, some structures of photoreceptor cells were preserved, advancing understanding of the condition for future gene therapies. While fundus albipunctatus currently has no cure, earlier detection can inform better genetic counseling for family members as well as better counsel patients regarding the prognosis of the condition.

My rating of this study: ⭐🌸

Sobolab EK, Deobhaktaab A, Wilkins CS, et al. "Fundus albipunctatus photoreceptor microstructure revealed using adaptive optics scanning light ophthalmoscopy." American Journal of Ophthalmology Case Reports.  22:101090. June 2021. https://doi.org/10.1016/j.ajoc.2021.101090