Fundus Albipunctatus with Cone Dystrophy – Page 28 of 34

Diagnosis and Management

• Fundus Albipunctatus (FA) is a type of congenital stationary night blindness (CSNB) characterized by multiple yellowish white dots and a delayed course of dark adaptation.¹
• FA may not be as stationary (or non-progressive) as originally thought and may involve the cone visual pigment as well as rod visual pigment.²
• Our patient has both FA and cone dystrophy (CD), a combination first reported in 1987³ and then confirmed in numerous other reports^4,5,6; neither condition is treatable.
• A mutation in the RDH5 gene has been reported in at least 6 families with this autosomal recessive disorder of FA and CD.⁷
• In addition, our patient appears to also have glaucoma, an unreported association with FA and CD.
• Our patient is scheduled to return for diurnal IOPs and then treatment for glaucoma will be initiated.
• In addition, DNA analysis for several genes including the RDH5 gene will be obtained.