Retinal pathology of a patient with Goldmann-Favre Syndrome

Abstract

Purpose: To define the retinal pathology in an 88-year-old male affected with Goldmann-Favre syndrome with a 2bp 5′ A>C splice site mutation in the NR2E3 gene.

Methods: Retinal tissue from the macula and periphery was processed for immunohistochemistry. Perimacular retina was processed for transmission electron microscopy. Cryosections were studied by indirect immunofluorescence, using well-characterized antibodies to rhodopsin, cone cytoplasm, and cone opsins. The affected donor eye was compared to a postmortem matched normal eye.

Results: The retina was highly disorganized without laminar organization. The RPE was discontinuous in some perimacular regions. Large (>1mm) spherical electrondense melanosomes were observed in the RPE and choroid by TEM. Rods were virtually absent in the affected retina. Cones were present in the macula, but were mostly absent from the retinal periphery. In addition, cone rosettes were observed in the perimacular area. Both red/green and blue cone opsins were distributed along the entire cellular expanse of the cone photoreceptors in the affected eye, but were restricted to the cone outer segments in the control retina.

Conclusions: The histological data obtained from the retina of an elderly male patient with Goldmann-Favre syndrome showed an absence of rods and abnormal distribution of red/green and blue cone opsins.

KEYWORDS::

• Goldmann-Favre syndrome
• Cone opsins
• Histology
• Immunohistochemistry
• Pigment clumping
• Retinal degeneration
• Rhodopsin

ACKNOWLEDGMENTS

This work was presented at the Association for Research in Vision and Ophthalmology Annual Meeting, May, 2008 and at the XIIIth International Symposium on Retinal Degeneration Meeting, September, 2008 and at XVIII ICER08.

The authors thank Dr. Peter MacLeish (Morehouse School of Medicine, Atlanta, GA) for providing us with the antibody to cone arrestin (7G6), Dr. Paul Hargrave (University of Florida, Gainesville, FL) for providing us with the antibody to rhodopsin (B6-30N). This work was supported by The Foundation Fighting Blindness, Owings Mills, MD, NIH infrastructure grant EY015638 and an unrestricted grant from Research to Prevent Blindness.

Declaration of interest: The authors report no conflict of interest.